Cryopyrin-Associated Periodic Syndromes: A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.Familial Mediterranean Fever: A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.Hereditary Autoinflammatory Diseases: Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.Receptors, Tumor Necrosis Factor, Type I: A tumor necrosis factor receptor subtype that has specificity for TUMOR NECROSIS FACTOR ALPHA and LYMPHOTOXIN ALPHA. It is constitutively expressed in most tissues and is a key mediator of tumor necrosis factor signaling in the vast majority of cells. The activated receptor signals via a conserved death domain that associates with specific TNF RECEPTOR-ASSOCIATED FACTORS in the CYTOPLASM.Syndrome: A characteristic symptom complex.Schnitzler Syndrome: An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate.Mevalonate Kinase Deficiency: Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.Caspase 1: A long pro-domain caspase that has specificity for the precursor form of INTERLEUKIN-1BETA. It plays a role in INFLAMMATION by catalytically converting the inactive forms of CYTOKINES such as interleukin-1beta to their active, secreted form. Caspase 1 is referred as interleukin-1beta converting enzyme and is frequently abbreviated ICE.Interleukin-1beta: An interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein. Proteolytic processing of the precursor form by CASPASE 1 results in release of the active form of interleukin-1beta from the membrane.Receptors, Tumor Necrosis Factor: Cell surface receptors that bind TUMOR NECROSIS FACTORS and trigger changes which influence the behavior of cells.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Hearing Loss, Mixed Conductive-Sensorineural: Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear.Interleukin 1 Receptor Antagonist Protein: A ligand that binds to but fails to activate the INTERLEUKIN 1 RECEPTOR. It plays an inhibitory role in the regulation of INFLAMMATION and FEVER. Several isoforms of the protein exist due to multiple ALTERNATIVE SPLICING of its mRNA.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Serum Amyloid A Protein: An ACUTE PHASE REACTION protein present in low concentrations in normal sera, but found at higher concentrations in sera of older persons and in patients with AMYLOIDOSIS. It is the circulating precusor of amyloid A protein, which is found deposited in AA type AMYLOID FIBRILS.Hypergammaglobulinemia: An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)Amyloidosis: A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.Arthritis, Gouty: Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipitated by trauma, infection, surgery, etc. The initial attacks are usually monoarticular but later attacks are often polyarticular.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Cytoskeletal Proteins: Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.Antigens, CD: Differentiation antigens residing on mammalian leukocytes. CD stands for cluster of differentiation, which refers to groups of monoclonal antibodies that show similar reactivity with certain subpopulations of antigens of a particular lineage or differentiation stage. The subpopulations of antigens are also known by the same CD designation.Joint DiseasesInflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.Dermatitis: Any inflammation of the skin.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Metabolic Syndrome X: A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)Interleukin-18: A cytokine which resembles IL-1 structurally and IL-12 functionally. It enhances the cytotoxic activity of NK CELLS and CYTOTOXIC T-LYMPHOCYTES, and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity.Macrophages: The relatively long-lived phagocytic cell of mammalian tissues that are derived from blood MONOCYTES. Main types are PERITONEAL MACROPHAGES; ALVEOLAR MACROPHAGES; HISTIOCYTES; KUPFFER CELLS of the liver; and OSTEOCLASTS. They may further differentiate within chronic inflammatory lesions to EPITHELIOID CELLS or may fuse to form FOREIGN BODY GIANT CELLS or LANGHANS GIANT CELLS. (from The Dictionary of Cell Biology, Lackie and Dow, 3rd ed.)Connexins: A group of homologous proteins which form the intermembrane channels of GAP JUNCTIONS. The connexins are the products of an identified gene family which has both highly conserved and highly divergent regions. The variety contributes to the wide range of functional properties of gap junctions.Nephrotic Syndrome: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.Sjogren's Syndrome: Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.Enzyme Activation: Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Turner Syndrome: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Gout Suppressants: Agents that increase uric acid excretion by the kidney (URICOSURIC AGENTS), decrease uric acid production (antihyperuricemics), or alleviate the pain and inflammation of acute attacks of gout.Kidney Transplantation: The transference of a kidney from one human or animal to another.Dictionaries, MedicalMosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Urticaria: A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.Gene Knock-In Techniques: Techniques used to add in exogenous gene sequence such as mutated genes; REPORTER GENES, to study mechanisms of gene expression; or regulatory control sequences, to study effects of temporal changes to GENE EXPRESSION.Proton Pump Inhibitors: Compounds that inhibit H(+)-K(+)-EXCHANGING ATPASE. They are used as ANTI-ULCER AGENTS and sometimes in place of HISTAMINE H2 ANTAGONISTS for GASTROESOPHAGEAL REFLUX.Inflammasomes: Multiprotein complexes that mediate the activation of CASPASE-1. Dysregulation of inflammasomes has also been linked to a number of autoinflammatory and autoimmune disorders.ArchivesBiological Science Disciplines: All of the divisions of the natural sciences dealing with the various aspects of the phenomena of life and vital processes. The concept includes anatomy and physiology, biochemistry and biophysics, and the biology of animals, plants, and microorganisms. It should be differentiated from BIOLOGY, one of its subdivisions, concerned specifically with the origin and life processes of living organisms.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.PubMed: A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.Directories as Topic: Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)Autografts: Transplant comprised of an individual's own tissue, transferred from one part of the body to another.Immunosuppressive Agents: Agents that suppress immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-CELLS or by inhibiting the activation of HELPER CELLS. While immunosuppression has been brought about in the past primarily to prevent rejection of transplanted organs, new applications involving mediation of the effects of INTERLEUKINS and other CYTOKINES are emerging.Sirolimus: A macrolide compound obtained from Streptomyces hygroscopicus that acts by selectively blocking the transcriptional activation of cytokines thereby inhibiting cytokine production. It is bioactive only when bound to IMMUNOPHILINS. Sirolimus is a potent immunosuppressant and possesses both antifungal and antineoplastic properties.

The inherited autoinflammatory syndrome: a decade of discovery. (1/51)

The hereditary autoinflammatory diseases arise from mutations of genes regulating the innate immune system. These rare disorders are well characterized, both clinically and in terms of their molecular pathogenesis. The recurrent attacks of febrile polyserositis of Familial Mediterranean Fever (FMF) are due to defective pyrin, a protein that down-regulates inflammation. The Hyperimmunoglobulinemia D Syndrome (HIDS), which mimics FMF, results from a genetically conferred deficiency of mevalonate kinase. TRAPS (TNF Receptor Associated Periodic Syndrome), formerly known as Familial Hibernian Fever, is caused by a defective membrane receptor for TNF. Three other hereditary disorders which overlap in their clinical expression - Familial Cold Autoinflammatory Syndrome, the Muckle Wells syndrome, and Neonatal Onset Multisystem Inflamatory Disease (NOMID) - are a consequence of gain-of-function mutations of the gene encoding cryopyrin, the scaffolding protein of the inflammasome. The PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, Acne) results from mutations of a gene that increases the binding of its product (PSPSTPIP1) to pyrin, thereby blunting the inhibitory effect of pyrin on inflammasome activation.  (+info)

The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. (2/51)

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Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. (3/51)

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Canakinumab. (4/51)

Canakinumab (ACZ885, Ilaris) is a human anti-IL-1beta monoclonal antibody developed by Novartis. Its mode of action is based on the neutralization of IL-1beta signaling, resulting in suppression of inflammation in patients with disorders of autoimmune origin. In June 2009 the drug was approved by the US Food and Drug Administration for the treatment of familial cold auto-inflammatory syndrome and Muckle-Wells syndrome, which are inflammatory diseases related to cryopyrin-associated periodic syndromes. The drug is currently being evaluated for its potential in the treatment of rheumatoid arthritis, systemic-onset juvenile idiopathic arthritis, chronic obstructive pulmonary disease, type 1 and 2 diabetes and ocular diseases. Reports from clinical trials suggest that canakinumab is well-tolerated in most patients, and no serious adverse effects have been reported. The drug provides significant advantages over existing competitive therapies, including bimonthly administration and approved use in children.  (+info)

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. (5/51)

 (+info)

The inflammasome, an innate immunity guardian, participates in skin urticarial reactions and contact hypersensitivity. (6/51)

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Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals. (7/51)

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Inflammasome and IL-1beta-mediated disorders. (8/51)

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*Cryopyrin-associated periodic syndrome

Cryopyrin-associated periodic syndromes are associated with a gain-of-function missense mutation in exon 3 of NLRP3, the gene ... Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by ... Kubota T, Koike R. Cryopyrin-associated periodic syndromes: background and therapeutics. Mod Rheumatol. 2010 Jun;20(3):213-21 ... in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies". Arthritis ...

*Cold urticaria

FCAS is one of the cryopyrin-associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NALP3 (aka NLRP3) gene at ... Walsh, GM (2009). "Canakinumab for the treatment of cryopyrin-associated periodic syndromes". Drugs of today (Barcelona, Spain ... "Familial cold autoinflammatory syndrome". Familial cold autoinflammatory syndrome. U.S. National Library of Medicine. Retrieved ... 2010-02-01). "Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up ...

*Neonatal-onset multisystem inflammatory disease

It is one of the cryopyrin-associated periodic syndromes. NOMID can result from a mutation in the CIAS1 gene (also known as ... Aicardi-Goutières syndrome Still's disease Schnitzler syndrome Hyperimmunoglobulin D syndrome Familial Mediterranean fever ... This syndrome is also known as the Prieur-Griscelli syndrome as it was first described by these authors in 1981. The age of ... is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the ...

*Canakinumab

... was approved for the treatment of cryopyrin-associated periodic syndromes (CAPS) by the U.S. Food and Drug ... 4 June 2009). "Use of canakinumab in the cryopyrin-associated periodic syndrome". N Engl J Med. 360 (23): 2416-25. doi:10.1056/ ... CAPS is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and ... approved in EU for treatment of cryopyrin-associated periodic syndrome". National electronic Library for Medicines. Retrieved ...

*Recession Proof (House)

He is finally diagnosed with Cryopyrin-associated periodic syndrome but dies before he can be treated. Meanwhile, Cuddy is ...

*NALP3

... been associated with a spectrum of dominantly inherited autoinflammatory diseases called cryopyrin-associated periodic syndrome ... Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal onset ... NACHT, LRR and PYD domains-containing protein 3 (NALP3) also known by cryopyrin is a protein that in humans is encoded by the ... Pueyo I, Jiménez JR, Hernández J, Brugarolas A, García-Morán M, García-Muñiz JL, Arroyo F (Sep 1978). "Carcinoid syndrome ...

*Interleukin 1 beta

... and approved in many countries for treatment of cryopyrin-associated periodic syndromes. Because many authors of scientific ... Increased production of IL-1β causes a number of different autoinflammatory syndromes, most notably the monogenic conditions ...

*Protein engineering

... approval for treating cryopyrin-associated periodic syndrome. Another computing method, IPRO, successfully engineered the ...

*NLRC4

... in distinction from patients with NLRP3 mutations who develop Cryopyrin Associated Periodic Syndromes. A large Japanese family ... Humans bearing activating mutations in NLRC4 can develop an autoinflammatory syndrome characterized by acute fever, hepatitis, ... very high serum ferritin, and other features suggestive of Macrophage Activation Syndrome (MAS). Some patients also developed a ... "Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation". Nature Genetics. 46 (10): 1135-9. doi:10.1038/ng. ...

*Chronic recurrent multifocal osteomyelitis

TNF receptor associated periodic syndrome, cryopyrin-associated periodic syndrome, Blau syndrome, pyogenic sterile arthritis, ... The two brothers also had Sweet syndrome. The association of Sweet syndrome with chronic recurrent multifocal osteomyelitis and ... Here we report a third consanguineous family with Majeed syndrome with a novel mutation. The patient, a 3-year-old Arabic girl ... Al-Mosawi, Al-Saad; Ijadi-Maghsoodi, El-Shanti (2007). "A splice site mutation confirms the role of LPIN2 in Majeed syndrome". ...

*Rilonacept

... by the United States Food and Drug Administration and is used for the treatment of cryopyrin-associated periodic syndromes ( ... CAPS), including familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neonatal onset multisystem inflammatory ...

*Muckle-Wells syndrome

... all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS ... As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the ... Muckle-Wells syndrome (MWS), also known as urticaria-deafness-amyloidosis syndrome (UDA), is a rare autosomal dominant disease ... protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem ...

*Skull bossing

Basal cell nevus syndrome Congenital syphilis Cleidocranial dysostosis Crouzon syndrome Cryopyrin-Associated Periodic Syndrome ... hematopoiesis Fragile X syndrome Hurler syndrome Pfeiffer syndrome Rubinstein-Taybi syndrome Russell-Silver syndrome (Russell- ... Frontal bossing may be seen in a few rare medical syndromes such as acromegaly - a chronic medical disorder in which the ... Silver dwarf) Marfan Syndrome Trimethadione (antiseizure drug) use during pregnancy Beta-thalassemia (due to expansion of bone ...

*List of syndromes

... syndrome Cryopyrin-associated periodic syndrome Cuboid syndrome Currarino syndrome Cushing's syndrome Cyclic vomiting syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... periodic syndrome Tolosa-Hunt syndrome Tonic tensor tympani syndrome Tooth and nail syndrome TORCH syndrome Tourette syndrome ... syndrome Hero syndrome Heyde's syndrome High-rise syndrome HIV/AIDS Holiday heart syndrome Holt-Oram syndrome Hopkins syndrome ...
Looking for online definition of cryopyrin-associated periodic syndromes in the Medical Dictionary? cryopyrin-associated periodic syndromes explanation free. What is cryopyrin-associated periodic syndromes? Meaning of cryopyrin-associated periodic syndromes medical term. What does cryopyrin-associated periodic syndromes mean?
Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin 1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome (FCAS, formerly termed familial cold-induced urticaria), the Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and articular syndrome or CINCA) that were originally thought to be distinct entities, but in fact share a single genetic mutation and pathogenic pathway. The syndromes within CAPS overlap clinically, and patients may have features of more than one disorder. In a retrospective cohort of 136 CAPS patients from 16 countries, the most prevalent clinical features were fever (84% of cases, often with concurrent constitutional ...
Neonatal-onset multisystem inflammatory disease (abbreviated NOMID, also known as chronic infantile neurologic cutaneous and articular syndrome, or CINCA) is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage. It is one of the cryopyrin-associated periodic syndromes. NOMID can result from a mutation in the CIAS1 gene (also known as NLRP3 gene), which helps control inflammation. Mutations in this gene also cause familial cold urticaria and Muckle-Wells syndrome. NOMID has been successfully treated with the drug anakinra. This syndrome is also known as the Prieur-Griscelli syndrome as it was first described by these authors in 1981. The age of onset is almost always before 3 months of age. Many infants are born preterm (1/3 cases) and dysmature. The babies are frequently small for dates. The placenta may be ...
The Autoinflammatory Alliance is a non-profit dedicated to increasing awareness, care and treatment for patients with Cryopyrin-Associated Periodic Syndromes, including: NOMID/CINCA, Muckle-Wells (MWS) Familial Cold Autoinflammatory Syndromes (FCAS), and other autoinflammatory diseases.
TY - JOUR. T1 - A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis. T2 - Therapeutic efficacy of proton pump inhibitors. AU - Bertoni, Arinna. AU - Carta, Sonia. AU - Baldovini, Chiara. AU - Penco, Federica. AU - Balza, Enrica. AU - Borghini, Silvia. AU - Di Duca, Marco. AU - Ognio, Emanuela. AU - Signori, Alessio. AU - Nozza, Paolo. AU - Schena, Francesca. AU - Castellani, Patrizia. AU - Pastorino, Claudia. AU - Perrone, Carola. AU - Obici, Laura. AU - Martini, Alberto. AU - Ceccherini, Isabella. AU - Gattorno, Marco. AU - Rubartelli, Anna. AU - Chiesa, Sabrina. PY - 2019/1/1. Y1 - 2019/1/1. N2 - Background: Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases linked to gain-of-function mutations in the NOD-like receptor family, pyrin domain containing 3 (NLRP3) gene, which cause uncontrolled IL-1β secretion. Proton pump inhibitors (PPIs), which are commonly used as inhibitors of gastric acid production, ...
The Autoinflammatory Alliance is a non-profit dedicated to increasing awareness, care and treatment for patients with Cryopyrin-Associated Periodic Syndromes, including: NOMID/CINCA, Muckle-Wells (MWS) Familial Cold Autoinflammatory Syndromes (FCAS), and other autoinflammatory diseases.
To date there are no approved effective therapies for the treatment of cryopyrin-associated periodic syndromes (CAPS) including Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), or Neonatal Onset Multisystem Inflammatory Disease (NOMID) in Japan.. The study will assess the efficacy and safety of canakinumab in Japanese patients with cryopyrin-associated periodic syndromes (CAPS). In previous and currently ongoing CAPS studies (CACZ885A2102, CACZ885D2201, CACZ885D2304, CACZ885D2306), it has been observed that treatment with canakinumab in patients with CAPS contributed to ensure absence of relapse, to improve signs and symptoms and to prevent secondary disease complications. However, no Japanese patients have been included in those studies. This study will allow access for Japanese patients to a new potentially efficacious treatment for CAPS patients with a convenient dosing regimen. ...
The cryopyrin-associated periodic syndrome (CAPS) is an autosomal dominant autoinflammatory disease characterized by fever, skin rash, and joint involvement with acute inflammatory response. The genetic defect involves the NLRP3 gene that encodes cryopyrin and leads to an abnormal production of interleukin-1 (IL-1). Therefore, anti-IL-1 treatment represents an effective therapy. One of the most severe manifestations of the disease is secondary amyloidosis that causes renal failure. We present a patient with CAPS who underwent renal transplantation for renal insufficiency caused by amyloidosis. The function of the transplanted kidney deteriorated because of the late administration of IL-1 receptor antagonist, anakinra. This case may indicate the importance of early initiation of anti-IL-1 treatment in CAPS patients who have undergone kidney transplantation. ...
Autosomal dominant mutations in NLRP3 in humans leads to three autoinflammatory syndromes collectively referred to as cryopyrin-associated periodic syndromes (CAPS; also called cryopyrinopathies) (48, 49, 50, 51). Gain-of-function mutations of NLRP3 cause a lowered activation threshold that leads to IL-1β secretion even in the absence of a stimulus in vitro (36, 52, 53). All CAPS are characterized by increased levels of IL-1β in the absence of infection. CAPS consist of a spectrum of diseases ranging from the mild, such as familial cold autoinflammatory syndrome (FCAS), to the intermediate, such as Muckle-Wells syndrome (MWS), to the severe, such as chronic infantile neurological, cutaneous and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID). All three syndromes present with fever, urticaria-like rash, and varying degrees of arthropathy and neurological manifestations (4, 54, 55, 56). FCAS consists of the mildest symptoms, including ...
The approval for Kineret was based on the results received from a Phase III open label and uncontrolled study. The study enrolled 43 NOMID patients who were aged between 0.7 and 46 years.. The patients were initially administered with Kineret dose of one to 2.4mg/kg body weight. The dose was adjusted by 0.5 to 1mg/kg increments, according to the specified protocol, up to a maximum of 10mg/kg daily. The maximum dose administered in the study was 7.6mg/kg/day. The average maintenance dose was three to 4mg/kg daily. Kineret was administered once-daily in some patients, and twice-daily in others.. The NOMID symptoms were measured using disease-specific Diary Symptom Sum Score (DSSS). The main disease symptoms were fever, rash, joint pain, vomiting and headache. The patients were treated for more than 60 months.. The results of the study were consistent in all subgroups. The improvements occurred in all individual disease symptoms comprising the DSSS. Common side effects found during the clinical ...
This study uses the IL-1 receptor antagonist anakinra to treat children and adults with Neonatal-Onset Multisystem Inflammatory Disease (NOMID), also known as chronic infantile neurological, cutaneous and arthropathy (CINCA) syndrome. NOMID/CINCA syndrome is a rare genetic systemic auto-inflammatory disease that is characterized by a triad of symptoms, including a persistent urticaria-like skin rash, an arthropathy associated with patellar and epiphyseal osseous overgrowth, and neurological manifestations, including chronic aseptic meningitis, optic disc edema, high frequency hearing loss, and mental retardation. Spontaneous genetic mutations in the NACHT domain of CIAS1, a gene located on chromosome 1 have been recently identified in about half of the patients with NOMID/CINCA syndrome. CIAS1 encodes a protein, cryopyrin that is associated with up-regulation of IL-1 production in vitro, which has formed the rationale to target the IL-1 pathway in children with NOMID. During an up to 3- week ...
The Autoinflammatory Alliance is a non-profit dedicated to increasing awareness, care and treatment for patients with Cryopyrin-Associated Periodic Syndromes, including: NOMID/CINCA, Muckle-Wells (MWS) Familial Cold Autoinflammatory Syndromes (FCAS), and other autoinflammatory diseases.
stopcaidnow.org Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctors and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating. ...
Neonatal-onset multisystem inflammatory disease (NOMID) also known as chronic infantile neurological, cutaneous and articular syndrome (CINCA). Authoritative facts about the skin from DermNet New Zealand.
Chronic infantile neurologic cutaneous and articular (CINCA) syndrome, also known as neonatal onset multisystem inflammatory disease, or NOMID, is a congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms (skin rash), chronic meningitis, and joint pain with recurrent fever and inflammation. CINCA is the most severe form of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. About 50% of affected individuals have mutations in this gene. This condition is inherited in an autosomal dominant fashion ...
Conclusions We herein show somatic NLRP3 mosaicism underlying MWS, probably representing a shared genetic mechanism in CAPS not restricted to CINCA syndrome. The data here described allowed definitive diagnoses of these patients, which had serious implications for gaining access to anti-interleukin 1 treatments under legal indication and for genetic counselling. The detection of somatic mosaicism is difficult when using conventional methods. Potential candidates should benefit from the use of modern genetic tools.. ...
Chronic infantile neurological cutaneous articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease, is a rare congenital inflammatory disease characterised by cardinal signs including a variable congenital maculopapular urticarial rash, chronic non-inflammatory arthropathy with abnormal cartilage proliferation, and chronic meningitis with progressive neurological impairment associated with polymorphonuclear and occasionally eosinophilic infiltration.1 The CINCA syndrome is associated with childhood uveitis and papillitis with chronic disc swelling.2 It may occur as a result of mutations of the CIAS1 gene that encodes cryopyrin, which results in reduced apoptosis of the inflammatory cells with up regulation of interleukin 1 (IL1).3-5 Consequently, the CINCA syndrome responds poorly to immunosuppressives including steroids, and treatment has been limited until recent reports of successful treatment with the recombinant human IL1 receptor antagonist (rHuIL1Ra), ...
The next medicine which is costliest in the world and is in our list is named as Arcalyst. This drug is manufactured by the pharmaceutical company named as Renege Pharmaceuticals. The other names of this drug are Rilonacept and IL-1 Trap. This medicine is used for the treatment of disease named as the Cryopyrin and its associated periodic syndromes. And also for the treatment of Muckle-Wells syndrome, familial cold autoinflammatory syndrome and neonatal onset multisystem inflammatory disease. If you are in need of this drug then you will have to pay 250,000 US dollars per year which is too much for a common man. This drug has been named as the Orphan Drug by the United States Food and Drug Administration. This drug was approved by the FDA on 8th May 2012.. 6. Myozyme. ...
Results Among the patients studied disease duration ranged from 3 months to 19 years (mean age 10±7,2 years), 20 patients (50%), from 5 to 10 years - 15 (37.5%), and more than 10 years - 5 patients (12.5%). X-ray picture of joint damage in the majority of patients corresponded to stage 2-3 - 87.5% (35 patients). Less common muscular disorders (7.5%), mainly in patients taking long-term GC, myalgia and muscle malnutrition were detected in 7.5% and 25% of patients, respectively. In addition to the articular syndrome, the most frequent complaints of general weakness (75%), irritability, sleep disorders and attention (50%), anxiety and anxiety (75%), low-grade temperature (10%) ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
The NLRP3 inflammasome is a protein complex responsible for caspase-1-dependent maturation of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS). In this study, we generated Nlrp3-knockin mice on various KO backgrounds including Il1b/Il18-, caspase-1-, caspase-11- (Casp1/11-), and Tnf-deficient strains. The Nlrp3L351P Il1b-/- Il18-/- mutant mice survived and grew normally until adulthood and, at 6 months of age, exhibited marked splenomegaly and leukophilia. Injection of these mice with low-dose LPS resulted in elevated serum TNF levels compared with Nlrp3L351P Casp1/11-/- mice and Il1b-/- Il18-/- littermates. Treatment of Nlrp3A350V mice with the TNF inhibitor etanercept resulted in all pups surviving to adulthood, with normal body and spleen/body weight ratios. Nlrp3A350V Tnf-/- mice showed a similar phenotypic rescue, with marked reductions in serum IL-1β and ...
TY - JOUR. T1 - Clinical characteristics of patients carrying the Q703K variant of the NLRP3 Gene. T2 - A 10-year multicentric national study. AU - Naselli, Aldo. AU - Penco, Federica. AU - Cantarini, L.. AU - Insalaco, Antonella. AU - Alessio, Mariolina. AU - Tommasini, Alberto. AU - Maggio, Cristina. AU - Obici, Laura Piera. AU - Gallizi, Romina. AU - Cimmino, Marco A.. AU - Signa, Sara. AU - Lucherini, Orso Maria. AU - Carta, Sonia. AU - Caroli, F.. AU - Martini, Alberto. AU - Rubartelli, Anna. AU - Ceccherini, Isabella. AU - Gattorno, Marco. PY - 2016/6/1. Y1 - 2016/6/1. N2 - Objective. The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C, A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS). Methods. Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a ...
[140 Pages Report] Muckle-Wells Syndrome Market categorizes the global market By family of Cryopyrin (Associated periodic syndromes, mutation of CIAS1 gene) & By Geography
Actually, a clinical and laboratory remission, the eventual goal of the treatment, was achieved with anakinra. She was in remission, both under anakinra and canakinumab, according to disease activity score proposed by Kümmerle-Deschner et al.,(2,3) defined as a score less than 5 and normal serum CRP and SAA levels. In the absence of any clinical and laboratory sign of ongoing inflammation under anakinra, it is interesting for proteinuria to decrease further with canakinumab, although it was previously shown that anakinra-resistant cases may benefit from canakinumab and more patients achieved remission under canakinumab compared to anakinra.(3,4) Furthermore, to our knowledge, no case of canakinumab- resistant autoinflammatory disease, responsive to anakinra was reported to date. These observations are possibly due to the difference in half-lives and mechanisms of action between the two interleukin-1 blocking agents and may reflect an issue of efficacy. In case of amyloidosis secondary to MWS, ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Muckle-Wells syndrome
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NLRP3 has been recognized as one of the key components of innate immunity. Upon activation, NLRP3 forms a multiprotein complex called as the inflammasome which leads to the activation of pro-inflammatory caspase-1 which subsequently results in the formation of Interleukin (IL)-1β and IL-18. Mutations in the NLRP3 gene can lead to its constitutive activation resulting in an uncontrolled production of IL-1β. These mutations have been implicated in hereditary inflammatory diseases, often grouped under Cryopyrin associated periodic syndromes (CAPS, cryopyrin being an alternative name for NLRP3).. Paper I in this thesis presents the case of a patient with a long history of arthritis and antibiotic resistant fever, but without the typical symptoms of CAPS. The patient was a heterozygous carrier of two common polymorphisms, Q705K in NLRP3 and C10X in CARD-8. Experimental studies indicated elevated activity of caspase-1 and IL-1β levels in the patient and a total clinical remission was achieved by ...
This study is investigating the efficacy of canakinumab in patients with newly-diagnosed type 1 diabetes mellitus. The primary endpoint is the area under the
From UniProt:. Autoinflammation with infantile enterocolitis (AIFEC): An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. [MIM:616050]. Familial cold autoinflammatory syndrome 4 (FCAS4): A form of autoinflammatory syndrome, a rare autosomal dominant systemic disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. [MIM:616115]. ...
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As one of the systemic autoinflammatory diseases (SAIDs), the nucleotide-binding oligomerization domain-like receptor protein (NLRP)12 autoinflammatory disease (NLRP12-AD) is an autosomal dominant disorder associated with NLRP12 mutation. SAIDs have been hardly reported in the Chinese population, and NLRP12-AD has been reported only in Caucasians. We report the first case series of NLRP12-AD in the Chinese population coupled with literature review. Three Han Chinese adult patients with clinical phenotype suggestive of NLRP12-AD carrying NLRP12 variants were treated by the authors in 2015. Their phenotype and genotype were carefully studied. A PubMed search for SAIDs was conducted between January, 1990 and January, 2016, and we focused on NLRP12-AD. All three adult patients developed periodic disease in adulthood. They presented with recurrent fever (n = 3), polyarthralgia (n = 3), myalgia (n = 3), urticaria (n = 2), lymphadenopathy (n = 2), and erythema nodosa (n = 1). All patients carry the ...
In honor of Autoinflammatory Awareness Month in August, we have set up a fun, easy "Virtual 5K Your Way" fundraiser to support the Autoinflammatory Alliance. Autoinflammatory diseases are rare, and many have been only recently been discovered in the past … Continue reading →. ...
Most autoinflammatory diseases are known to be genetic conditions with a gene identified as involved in causing the symptoms. Although we do not know all the factors that may be involved in triggering flares, or how one came to have … Continue reading →. ...
Spleen tyrosine kinase (Syk) is involved in the development of the adaptive immune system and has been recognized as being important in the function of additional cell types, including platelets, phagocytes, fibroblasts, and osteoclasts, and in the generation of the inflammasome. Preclinical studies presented compelling evidence that Syk inhibition may have therapeutic value in the treatment of rheumatoid arthritis and other forms of arthritis, systemic lupus erythematosus, autoimmune cytopenias, and allergic and autoinflammatory diseases. In addition, Syk inhibition may have a place in limiting tissue injury associated with organ transplant and revascularization procedures. Clinical trials have documented exciting success in the treatment of patients with rheumatoid arthritis, autoimmune cytopenias, and allergic rhinitis. While the extent and severity of side effects appear to be limited so far, larger studies will unravel the risk involved with the clinical benefit.
Severe autoinflammatory disease caused by mutation in a gene controlling actin cytoskeletal dynamics and cure with allogeneic haematopoetic stem cell transplantation. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
A study in mice revealed how diet-induced changes to intestinal bacteria can influence autoinflammatory disease. The results could guide new approaches to these diseases.
Sarcoidosis is a multisystem inflammatory disease, which often affects the lungs. Many people with sarcoidosis may not be aware that they have the disease as the symptoms are present for a short time and disappear without the person even knowing t
III Mini-Symposium + OWL Lecture. Autoinflammation Thursday 22nd February 2018 15:00 to 17:30 - Leolin Price Lecture Theatre. 3.00 - 3.30 Dr Helen Lachmann. "Introduction to autoinflammation". 3.30 - 4.00 Dr Despina Eleftheriou. "Interferonopathies". 4.00 - 4.30 Dr Ebun Omoyinmi. "Clinical impact of a next generation sequencing targeted gene panel for autoinflammation and vasculitis". 4.30 - 5.30 Professor Michael McDermott. ...
Compared to placebo, canakinumab had modest but nonsignificant effects on glycated hemoglobin (HbA1c, glucose, and insulin levels. No effects were seen for low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), or non-HDL-C, although triglyceride levels increased approximately 10% in the 50 (p = 0.02) and 150 (p = 0.03) mg groups. Median reductions in C-reactive protein at 4 months were 36.4%, 53.0 %, 64.6%, and 58.7% for the 5, 15, 50, and 150 mg canakinumab doses, respectively, compared to 4.7% for placebo (all p values ≤ 0.02). Similarly, the median reductions in IL-6 at 4 months across the canakinumab dose range tested were 23.9%, 32.5%, 47.9%, and 44.5%, respectively, compared to 2.9% for placebo (all p ≤ 0.008), and the median reductions in fibrinogen at 4 months were 4.9%, 11.7%, 18.5%, and 14.8%, respectively, compared to 0.4% for placebo (all p values ≤ 0.0001). Adverse events were similar in the canakinumab and placebo groups.. ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Most people think all arthritis is the same, which causes major misunderstanding for patients living with the second most popular type of arthritis - the kind caused by autoimmune and autoinflammatory diseases.
The arrival of next-generation sequencing technologies into clinics has unveiled new mechanistic pathways that lead to the discovery of novel autoinflammatory phenotypes that lead to excessive innate immune responses and overlapping adaptive immune dysfunction [10]. These are the deficiency of adenosine deaminase 2 (DADA2) and STING-associated vasculopathy with onset in infancy (SAVI) that share characteristics with autoimmune disease and will be also reviewed in this article. Deciphering the underlying genetic cause of a suspected autoinflammatory disease may help to understand the molecular pathways that drive clinical phenotypes, some aspects of inflammation in autoimmunity and consequently to inspire further research for novel treatment targets looking forward the best therapeutic treatment option.. In fact, genetic defects are fortunately very rare situations, but these "extreme" presentations are excellent opportunities to learn about how molecules really work. Both PID that involves ...
Basel, November 13, 2017 - Novartis today announced results from a new analysis of the Phase III CANTOS study presented by Dr. Paul Ridker at the American Heart Association (AHA) Scientific Sessions 2017 and published simultaneously in The Lancet[1]. The pre-planned secondary analysis of an exploratory endpoint showed that people with a prior heart attack who achieved hsCRP levels below 2mg/L at three months after the first dose of canakinumab had a 25% reduction in major adverse cardiovascular events (MACE) versus placebo (HRadj=0.75, 95% CI 0.66-0.85, p,0.0001)[1]. These patients also had a significant reduction of 31% in the rate of cardiovascular (CV) death (HRadj=0.69, 95% CI 0.56-0.85, p=0.0004) and all-cause death (HRadj=0.69, 95% CI 0.58-0.81, p,0.0001)[1]. There was no significant reduction in these endpoints observed among those treated with canakinumab who achieved hsCRP levels equal to or above 2mg/L[1]. This analysis indicates that on-treatment hsCRP testing may offer a quick and ...
Let Swimia allow you to look for the most appropriate Chlorine Free Pools in Albalate de Cinca even though you keep in Albalate de Cinca. Our wide Swimming Pools catalog is getting bigger just about on a daily basis due to people like you.
Adults and children as young as four years old may use canakinumab to treat certain inflammatory conditions. This eMedTV page looks at the conditions this prescription drug is approved to treat and discusses whether there are off-label uses.
19 Apr 2012, 05:25 AM Hello Regina and everyone, Getting the news of the mutation is a mixed bag of emotions for sure! You finally have a name and a diagnosis, but then again, you now know what is possible with this disease, and that is a hard thing to process. I think everyone will never forget the day when they get the news of the mutation! I still remember every bit about it for my son, where I was, what I was doing, and how I was up for many nights searching the internet for more info, and what could be done for him in early 2003. This was before they started the anakinra drug trials at the NIH, and when they were first seeing patients there with NOMID. Thanks to other parents that I found online, I was able to get my son into the NIH, and later the drug trials, but before that I was very worried for his future. I answered Regina on another post yesterday on rareshare, but yes, there are a number of others with the V200M mutation, and some have more symptoms than others. There are also ...
Autoinflammatory disorders are recently recognized syndromes believed to be due to overactive immune systems, rather than an immune deficiency. These disorders include periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, familial Mediterranean fever (FMF), the cryopyrinopathies (cryopyrin-associated periodic syndromes, or CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS) and hyper-IgD syndrome/mevalonic kinase deficiency (HIDS/MKD), among others.. Five Signs of Autoinflammation:. ...
Background/Purpose: Macrophage Activation Syndrome (MAS) is a life-threatening systemic inflammatory syndrome that complicates several rheumatic diseases. Current MAS-related serum biomarkers (ferritin, neopterin, CD163, and CD25) mark active disease but normalize with quiescence and may lack specificity. Serum IL-18 elevation has been associated with many inflammatory and infectious diseases, but extremely high levels have been reported in Stills Disease and Systemic Juvenile Idiopathic Arthritis, particularly in patients with a history of MAS.. Methods: We measured serum levels of several cytokines across a complex cohort of patients with idiopathic or genetically-defined autoinflammatory diseases (NCT00059748). Samples were obtained from healthy adults (24 patients) and children (4), and patients with cryopyrinopathies (Neonatal Onset Multisystem Inflammatory Disease/NOMID (18) and Muckle-Wells Syndrome (1)), NLRC4-MAS (2), Non-infectious Osteomyelitis (3), Deficiency of IL-1 Receptor ...
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (, 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey ...
Since this Ive also had to stop eating CHOCOLATE! it has been making me sick, the doctor says I have a periodic syndrome called cyclical vomiting. I was gutted as its so close to Easter. Mum bought me a purple wig to cheer me up. I LOVE IT!!! Its my rock-chick-chicky-rock wig for at home. Purple is my favourite colour and Ive said right since I had alopecia I wanted a purple wig ...
Gliosis of the White Matter & Poor Feeding Symptom Checker: Possible causes include Severe Neonatal-Onset Encephalopathy with Microcephaly. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
The brain is a genomic mosaic. Cell-to-cell genomic differences, which are the result of somatic mutations during development and aging, contribute to cellular diversity in the nervous system. This genomic diversity has important implications for nervous system development, function, and disease. Brain somatic mosaicism might contribute to individualized behavioral phenotypes and has been associated with several neuropsychiatric and neurodegenerative disorders. Therefore, understanding the causes and consequences of somatic mosaicism in neural circuits is of great interest. Recent advances in 3D cell culture technology have provided new means to study human organ development and various human pathologies in vitro. Cerebral organoids (
Monadnock Waldorf School (MWS) has partnered with the City of Keenes Department of Public Works on a pilot project to beautify the citys snowplows with student art.
Some people have a disease that is so rare, that even most doctors know only little about it. This applies to autoinflammatory diseases (which are also known as fever syndromes). If you have such disease, this can be very annoying, because you want to find out everything there is to know about your disease. And maybe your family, collegues or others do so too. On autoinflammation.eu you can find information on the most common autoinflammatory diseases:. - familial Mediterranean fever (FMF). - Cryopyrin associated periodic syndrome (CAPS). - Hyperimmunoglobulin D and periodic fever syndrome (HIDS). - TNF-receptor associated periodic syndrome (TRAPS). - Adult onset Stills disease (AOSD). - Schnitzler syndrome. Besides this, you can also find background information on autoinflammation and its treatment and updates on current research projects on autoinflammation here.. ...
The autoinflammatory diseases, also known as periodic fever syndromes, are disorders of innate immunity which can be inherited or acquired and which cause recurrent, self-limiting, seemingly spontaneous episodes of systemic inflammation and fever in the absence of autoantibody production or infection. There has been much recent progress in elucidating their aetiologies and treatment. With the exception of familial Mediterranean fever, which is common in certain populations, autoinflammatory diseases are mostly rare but should not be overlooked in the differential diagnosis of recurrent fevers since DNA diagnosis and effective therapies are available for many of them.
Objective Familial Mediterranan Fever can be an hereditary autoinflammatory disease that displays with repeated febrile poly and episodes serositis. and 6 times at least for six months. These five sufferers had no shows of attack through the pursuing observation. Conclusion Dapsone could control episodic attacks of FMF in 50% of cases. It might be considered AZD8055 as an alternative therapy in FMF cases not responding to colchicine. Keywords: Dapsone Familial Mediterranan Fever Periodic Fever Children Introduction Famlial mediterranean fever (FMF) is usually a genetic disease characterized by recurrent painful attacks of fever and polyserositis usually peritonitis pleuritis and arthritis. A typical attack can be prevented with regular daily administration of colchicine in the most patients[1]. However about ten percent of patients do not respond to colchicine or are completely resistant to the drug[2]. There is no known option or adjunct to colchicine therapy although non-steroidal ...
Some physicians say that the challenge of being educated as a doctor is similar to mastering a foreign language. Its certainly true that ones vocabulary expands tremendously in medical school. To take the analogy a little further, languages and medical knowledge are both alive, meaning that they continuously change. I graduated from medical school in 1975. One word never mentioned was autoinflammatory. What is the distinction between autoinflammatory and autoimmune? Why is the concept of autoinflammatory relatively new? How does autoinflammatory apply to ankylosing spondylitis and related diseases?. To address these questions, I need to make each reader both a medical historian and a clinical immunologist. So be prepared for some complicated background information.. The major responsibility of the immune system is to protect you from danger such as a bacterial or viral infection. This is not a simple task. Your body plays host to trillions of bacteria. You also allow yeasts and a number of ...
(Virginia Commonwealth University) Researchers from Virginia Commonwealth University Massey Cancer Center have discovered a new signaling pathway in sterile inflammation that could impact the treatment of diseases such as cancer, multiple sclerosis and rheumatoid arthritis. Their findings offer insight into the role that activation of interferon-regulatory factor 1, a protein that functions as a transcriptional activator of a variety of target genes, plays in the production of chemokines and the recruitment of mononuclear cells to sites of sterile inflammation. (Source: EurekAlert! - Biology)MedWorm Sponsor Message: Find the best Christmas Sales, Boxing Day Sales and January Sales here.
Background Anakinra pharmacokinetics and pharmacodynamics were investigated in children and adolescents treated for systemic-onset juvenile idiopathic arthritis (SJIA) and autoinflammatory syndromes.
Neurology news, research and treatment studies for epilepsy, neurodegenerative disorders, patients with MS and other brain and central nervous system disorders and diseases.
Novartis canakinumab, which is already approved for the rare autoinflammatory disease CAPS, has impressed in late-stage trials for gout. - News - PharmaTimes
Sequence variations in the gene products PYPAF1/CIAS1 and NOD2/CARD15 have been associated with several autoinflammatory diseases that, although clinically different, share a similar inflammatory pathophysiology. A multiple sequence alignment of homologous proteins demonstrates that some of the missense variants are located in highly conserved regions of the NTPase domain and possibly impair NTP-hydrolysis. Intriguingly, one of the variations, which is found identically in PYPAF1 and NOD2, is located at the same alignment position. Our findings suggest that evolutionary gene duplication can give rise to disease families because variants affect conserved sequence in a similar fashion ...
The primary endpoint in Canakinumab Anti-inflammatory Thrombosis Outcome Study (CANTOS) trial published by Ridker et al 1 was non-fatal myocardial infarction, non-fatal stroke or cardiovascular death. The authors concluded that canakinumab 150 mg reduced primary event rates compared with placebo (3.86 vs 4.11 per 100 person-years) with HR 0.85 (95%CI 0.74 to 0.98; P=0.021). Sample … ...
Discover Lifes page about the biology, natural history, ecology, identification and distribution of Storey, Malcolm I_MWS/1299 -- Discover Life
Discover Lifes page about the biology, natural history, ecology, identification and distribution of Storey, Malcolm I_MWS/1300 -- Discover Life
Learn more about Chemotherapy for Myelodysplastic Syndrome (MDS) at Portsmouth Regional Hospital Main Page Risk Factors ...
TY - JOUR. T1 - Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome. T2 - A prospective, open-label, dose-escalation study. AU - Bulua, Ariel C.. AU - Mogul, Douglas Bradford. AU - Aksentijevich, Ivona. AU - Singh, Harjot. AU - He, David Y.. AU - Muenz, Larry R.. AU - Ward, Michael M.. AU - Yarboro, Cheryl H.. AU - Kastner, Daniel L.. AU - Siegel, Richard M.. AU - Hull, Keith M.. PY - 2012/3. Y1 - 2012/3. N2 - Objective To investigate the efficacy of etanercept in improving the symptoms and underlying inflammation in patients with tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Methods Fifteen patients with TRAPS were enrolled in a prospective, open-label, dose-escalation study. Patients recorded attacks, symptom severity, and use of ancillary medications in a daily diary. Blood samples were collected during each period and measured for levels of acute-phase reactants. Between 7 years and 9 years after the conclusion of the initial ...
Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF). We studied a family with a dominantly inherited autoinflammatory disease, distinct from FMF, characterized by childhood-onset recurrent episodes of neutrophilic dermatosis, fever, elevated acute-phase reactants, arthralgia, and myalgia/myositis. The disease was caused by a mutation in MEFV, the gene encoding pyrin (S242R). The mutation results in the loss of a 14-3-3 binding motif at phosphorylated S242, which was not perturbed by FMF mutations in the B30.2/SPRY domain. However, loss of both S242 phosphorylation and 14-3-3 binding was observed for bacterial effectors that activate the pyrin inflammasome, such as Clostridium difficile toxin B (TcdB). The S242R ...
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This week, I was called to evaluate a young man with several aneurysms (ballooning of his blood vessels) and a dilated (widened) aorta. The medical team thought he had a "connective tissue disease" because a family member also had a connective tissue disease-she had lupus. Unfortunately, doctors can mean very different things when they talk about a "connective tissue disease;" this is a common source of confusion for doctors and patients alike. After reading this post, I hope youll be able understand the difference.. Connective tissue is the "stuff" that holds your body together. That is, the bones, ligaments, tendons, cartilage, fat, and "glue" that keeps all your organs in place. Two very different types of diseases can affect these tissues-you can have problems in MAKING the connective tissues, or these tissues can be ATTACKED by the bodys own immune system.. In the first type of "connective tissue disease," the body is unable to produce strong connective tissues. Its like trying to build ...
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Anakinra 100 mg daily by subcutaneous injection was started. Three hours after the first dose of anakinra, the rash resolved completely and her joint pain began to improve. Continuing with daily anakinra, the urticaria did not recur and the arthritis resolved. Two weeks after initiation of anakinra, the leukocytosis resolved; hemoglobin, CRP, and ferritin were normalized; and ESR was markedly improved. Her serum IgA level initially declined slightly, but reached a plateau and was not normalized (Figure 1). Continuation of daily anakinra sustained the clinical therapeutic effects and improvement of laboratory measures of systemic inflammation. She remained in remission at 8 months after initiation of anakinra. However, her finger-clubbing remained with no changes.. The clinical constellation of this case fits the spectrum of autoinflammatory diseases and closely resembles Schnitzlers syndrome. However, the major distinction of this case from Schnitzlers syndrome was the lack of monoclonal IgM ...
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (, 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey ...
Background/Purpose: The deficiency of adenosindeaminase 2 (DADA2) is a recently described autosomal recessive autoinflammatory disease, caused by mutations of CECR1 and characterized by early onset vasculopathy with livedoid skin associated to systemic inflammation. In some patients, the disease is mild and skin-limited, in others is severe, with multi-organ involvement including ischemic or hemorrhagic strokes. In some DADA2 patients a mild immunodeficiency was detected involving adaptive immunity. TNF inhibitors are very efficacious. Recently, an upregulation of type I interferon-stimulated gene transcripts, so called interferon signature, was described also in two DADA2 patients. We describe the clinical course of a 4 patients with CECR1 mutations and we assess the role of interferon type I signature as marker of diseases activity Methods: Molecular analysis of CECR1 was performed using next generation sequencing and confirmed by sanger sequencing. Blood was collected into PAXgene tubes and ...
BACKGROUND. Monogenic Interferon (IFN)-mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN-response-gene-signature (IRS), inflammatory organ damage and high mortality. We used the janus kinase (JAK) inhibitor baricitinib with IFN-blocking activity in vitro, to ameliorate disease. METHODS. Between October 2011 and February 2017, 10 patients with CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures), 4 with SAVI (Stimulator of IFN genes (STING)-associated vasculopathy with onset in infancy), and 4 patients with other interferonopathies were enrolled in an Expanded Access Program. Patients underwent dose-escalation, benefit was assessed by reductions in daily disease symptoms and corticosteroid requirement. Quality-of-life, organ inflammation, changes in IFN-induced biomarkers, and safety were longitudinally assessed. RESULTS. 18 patients were treated for a mean duration of 3.0 years (1.5-4.9 years). The median daily ...
Published on: February 18, 2015. by DNA India:. A new research study has revealed the anti-inflammatory mechanism of dieting and fasting. Researchers at Yale School of Medicine have found that a compound produced by the body when dieting or fasting can block a part of the immune system involved in several inflammatory disorders such as type 2 diabetes, atherosclerosis and Alzheimers disease.. The reserachers described how the compound Beta-hydroxybutyrate (BHB) directly inhibits NLRP3, which is part of a complex set of proteins called the inflammasome that drives the inflammatory response in several disorders including autoimmune diseases, type 2 diabetes, Alzheimers disease, atherosclerosis, and autoinflammatory disorders.. Researcher Vishwa Deep Dixit said that these findings are important because endogenous metabolites like BHB that block the NLRP3 inflammasome could be relevant against many inflammatory diseases, including those where there are mutations in the NLRP3 genes.. BHB is a ...
Familial Mediterranean fever (FMF) is the earliest known autoinflammatory disease, characterized by symptoms such as arthritis, peritonitis, pleuritis, erysipelas-like erythema, and most importantly amyloidosis. This disease is very common in populat
Background: Activated PI3-Kinase Delta Syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). Objective: To review the clinical, immunological, histopathological and radiological features of APDS in a large genetically-defined international cohort. Methods: Clinical questionnaire, and review of medical notes, radiology histopathology and laboratory investigations of 53 APDS patients. Results: Recurrent sino-pulmonary infections (96%) and non-neoplastic lymphoproliferation (75%) were common, often from childhood. Other significant complications included herpesvirus infections (49%), autoinflammatory disease (34%), and lymphoma (13%). Unexpectedly, neurodevelopmental delay occurred in 19% of the cohort, suggesting a role for PI3Kδ in the central nervous system (CNS); consistent with this PI3Kδ is broadly expressed in the developing murine CNS. Thoracic ...
Researcher in clinical trials on juvenile idiopathic arthritis, autoinflammatory diseases − cryopyrinopathies (CAPS), Hyper-IgD syndrome (HIDS) −, juvenile systemic lupus erythematosus, and imperfect osteogenesis ...
Inflammasomes (From Yu et al, 2005) ((Yu JW, Wu J, Zhang Z, Datta P, Ibrahimi I, Taniguchi S, Sagara J, Fernandes-Alnemri T, Alnemri ES (2006) Cryopyrin and
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PFAPA has recently been defined as a non-hereditary autoinflammatory disease characterized by Periodic episodes of high Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis. PFAPA is a benign pediatric syndrome of unknown etiology. It might have been diagnosed as antibiotic-resistant recurrent tonsillitis and indicated for unnecessary tonsillectomy in the otolaryngology clinic. Autoinflammatory diseases are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen-specific T cells. This disease is induced by abnormality of neutrophil-related inflammatory cytokines that regulates inflammation, innate immunity and apoptosis. Up-to-date information on innate immunity is also concisely reviewed.. ...
Chronic inflammation and inflammasome activation play roles in the pathogenesis of type 2 diabetes (2,29,30). NLRP3 is a member of the NLR family, which is responsible for cytosolic inflammasome activation. The NLRP3 inflammasome has been the focus of particular attention with regard to its roles in inflammatory responses, antimicrobial responses, and a variety of human diseases, including hereditary autoinflammatory syndromes, atherosclerosis, and diabetes (7,22,30,31). Recently, obesity-induced danger signals have been reported to activate the NLRP3 inflammasome and induce the production of IL-1β in adipose tissue in type 2 diabetic patients and mice fed a high-fat diet (9). Circulating levels of C-X-C motif chemokine 10 and CCL2, as well as interferon-γ mRNA and protein levels in adipose tissue, were significantly reduced in NLRP3-deficient mice, suggesting that the NLRP3 inflammasome plays a role in the macrophage-T-cell interactions that are associated with sustained levels of chronic ...
Chronic inflammation and inflammasome activation play roles in the pathogenesis of type 2 diabetes (2,29,30). NLRP3 is a member of the NLR family, which is responsible for cytosolic inflammasome activation. The NLRP3 inflammasome has been the focus of particular attention with regard to its roles in inflammatory responses, antimicrobial responses, and a variety of human diseases, including hereditary autoinflammatory syndromes, atherosclerosis, and diabetes (7,22,30,31). Recently, obesity-induced danger signals have been reported to activate the NLRP3 inflammasome and induce the production of IL-1β in adipose tissue in type 2 diabetic patients and mice fed a high-fat diet (9). Circulating levels of C-X-C motif chemokine 10 and CCL2, as well as interferon-γ mRNA and protein levels in adipose tissue, were significantly reduced in NLRP3-deficient mice, suggesting that the NLRP3 inflammasome plays a role in the macrophage-T-cell interactions that are associated with sustained levels of chronic ...
Vaitla, P. M., Radford, P. M., Tighe, P. J., Powell, R. J., McDermott, E. M., Todd, I. and Drewe, E., Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab. Arthritis Rheum. 2011. 63: 1151-1155 ...
Blau syndrome and early-onset sarcoidosis represent familial and sporadic forms of pediatric granulomatous autoinflammatory disease caused by mutations in the NOD2 gene. Clinical onset is usually earl... more
Blau syndrome and early-onset sarcoidosis represent familial and sporadic forms of pediatric granulomatous autoinflammatory disease caused by mutations in the NOD2 gene. Clinical onset is usually earl... more
Hereditary periodic fever syndromes are defined by the presence of recurrent incapacitating episodes or fluctuating degrees of fever and inflammation in the absence of infection. Unlike autoimmune diseases, hereditary periodic fever syndromes are marked by the absence of significant levels of autoantibodies and autoreactive T-cells. As a consequence, the name autoinflammatory syndromes has been advocated as a common descriptive denominator for this group of rare disorders.1,2 Since 1997, ten of the major syndromes have been linked to mutations in seven specific genes, facilitating the specific diagnosis of these conditions rather than relegating them to diagnoses of exclusion3 (Table 61-1). The nomenclature of the various autoinflammatory syndromes is complicated, comprising a mix of syndromes described by various typical manifestations and syndromes characterized by identification of specific genetic defects. Most terms originated from the period preceding the discovery of the implicated ...
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and more severely affected patients also have dysmorphisms and central nervous system anomalies. MKD is caused by mutations in the gene encoding mevalonate kinase, with the degree of residual enzyme activity largely determining disease severity. Mevalonate kinase is essential for the biosynthesis of nonsterol isoprenoids, which mediate protein prenylation. Although the precise pathogenesis of MKD remains unclear, increasing evidence suggests that deficiency in protein prenylation leads to innate immune activation and systemic hyperinflammation. Given the emerging understanding of MKD as an autoinflammatory disorder,
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Cryopyrin-associated periodic syndrome - WikipediaCryopyrin-associated periodic syndrome - Wikipedia

Cryopyrin-associated periodic syndromes are associated with a gain-of-function missense mutation in exon 3 of NLRP3, the gene ... Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by ... Kubota T, Koike R. Cryopyrin-associated periodic syndromes: background and therapeutics. Mod Rheumatol. 2010 Jun;20(3):213-21 ... in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies". Arthritis ...
more infohttps://en.wikipedia.org/wiki/Cryopyrin-associated_periodic_syndrome

Cryopyrin-associated periodic syndromes | definition of cryopyrin-associated periodic syndromes by Medical dictionaryCryopyrin-associated periodic syndromes | definition of cryopyrin-associated periodic syndromes by Medical dictionary

... cryopyrin-associated periodic syndromes explanation free. What is cryopyrin-associated periodic syndromes? Meaning of cryopyrin ... periodic syndromes medical term. What does cryopyrin-associated periodic syndromes mean? ... Looking for online definition of cryopyrin-associated periodic syndromes in the Medical Dictionary? ... cryopyrin-associated periodic syndromes. cryopyrin-associated periodic syndromes. A range of autoinflammatory disorders-e.g., ...
more infohttp://medical-dictionary.thefreedictionary.com/cryopyrin-associated+periodic+syndromes

A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy...A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy...

Background: Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases linked to gain-of-function ... keywords = "Cryopyrin-associated periodic syndromes, IL-1β, Nlrp3 mice, NOD-like receptor family, proton pump inhibitor, pyrin ... N2 - Background: Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases linked to gain-of- ... AB - Background: Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases linked to gain-of- ...
more infohttps://moh-it.pure.elsevier.com/en/publications/a-novel-knock-in-mouse-model-of-cryopyrin-associated-periodic-syn

Chapter 61. Hereditary Periodic Fever Syndromes | Pediatric Practice: Infectious Disease | AccessPediatrics | McGraw-Hill...Chapter 61. Hereditary Periodic Fever Syndromes | Pediatric Practice: Infectious Disease | AccessPediatrics | McGraw-Hill...

Main Periodic Fever Syndromes Overview. View Large,Favorite Table,Download (.pdf). Table 61-1. Main Periodic Fever Syndromes ... Hereditary Periodic Fever Syndromes. In: Shah SS. Shah S.S. Ed. Samir S. Shah.eds. Pediatric Practice: Infectious Disease New ... Hereditary Periodic Fever Syndromes." Pediatric Practice: Infectious Disease Shah SS. Shah S.S. Ed. Samir S. Shah. New York, NY ... familial cold autoinflammatory syndrome; HIDS, hyper-ID with periodic fever syndrome; NOMID, neonatal onset multisystem ...
more infohttp://accesspediatrics.mhmedical.com/content.aspx?bookid=453§ionid=40249738

JCI -
Confounding role of tumor necrosis factor in cryopyrin-associated periodic syndromesJCI - Confounding role of tumor necrosis factor in cryopyrin-associated periodic syndromes

... in NLRP3 result in a group of autoinflammatory diseases collectively known as the cryopyrin-associated periodic syndromes (CAPS ...
more infohttps://www.jci.org/articles/view/98322/pdf

Cryopyrin-associated periodic syndrome (CAPS) - Clinical AdvisorCryopyrin-associated periodic syndrome (CAPS) - Clinical Advisor

Does this patient have a cryopyrin-associated periodic syndrome (CAPS)?. History and symptoms. The CAPS family of diseases are ... Does this patient have a cryopyrin-associated periodic syndrome (CAPS)?*History and symptoms*Epidemiology*Physical exam*FCAS, ... What happens to patients with cryopyrin-associated periodic syndrome (CAPS)?. Natural history. The natural history of disease ... How should patients with cryopyrin-associated periodic syndrome (CAPS) be managed?. Treatment. Patients with CAPS universally ...
more infohttps://www.clinicaladvisor.com/home/decision-support-in-medicine/rheumatology/cryopyrin-associated-periodic-syndrome-caps/

Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) - Full Text View - ClinicalTrials.govRilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) - Full Text View - ClinicalTrials.gov

Cryopyrin-associated Periodic Syndrome Cold Urticaria Muckle-Wells Syndrome Wells Syndrome Familial Mediterranean Fever ... Syndrome. Urticaria. Genetic Diseases, Inborn. Cryopyrin-Associated Periodic Syndromes. Disease. Pathologic Processes. Skin ... Inflammatory symptoms of Cryopyrin-Associated Periodic Syndrome (CAPS) are due to mutations in a the NLRP-3 gene (previously ... Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS). This study has been completed. ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00288704?cond=FAMILIAL+MEDITERRANEAN+FEVER&rank=16

Cryopyrin-associated periodic syndrome (CAPS) - Oncology Nurse AdvisorCryopyrin-associated periodic syndrome (CAPS) - Oncology Nurse Advisor

Does this patient have a cryopyrin-associated periodic syndrome (CAPS)?. History and symptoms. The CAPS family of diseases are ... Does this patient have a cryopyrin-associated periodic syndrome (CAPS)?*History and symptoms*Epidemiology*Physical exam*FCAS, ... What happens to patients with cryopyrin-associated periodic syndrome (CAPS)?. Natural history. The natural history of disease ... How should patients with cryopyrin-associated periodic syndrome (CAPS) be managed?. Treatment. Patients with CAPS universally ...
more infohttps://www.oncologynurseadvisor.com/home/decision-support-in-medicine/rheumatology/cryopyrin-associated-periodic-syndrome-caps/

Cryopyrin-associated periodic syndrome (CAPS) - Renal and Urology NewsCryopyrin-associated periodic syndrome (CAPS) - Renal and Urology News

Cryopyrin Associated Periodic Syndrome (Familial Cold Urticaria, Familial Cold Autoinflammatory Syndrome, Muckle Wells Syndrome ... Does this patient have a cryopyrin-associated periodic syndrome (CAPS)?. History and symptoms. The CAPS family of diseases are ... What happens to patients with cryopyrin-associated periodic syndrome (CAPS)?. Natural history. The natural history of disease ... How should patients with cryopyrin-associated periodic syndrome (CAPS) be managed?. Treatment. Patients with CAPS universally ...
more infohttps://www.renalandurologynews.com/rheumatology/cryopyrin-associated-periodic-syndrome-caps/article/626547/

A case of cryopyrin-associated periodic syndrome with kidney transplant failure | SpringerLinkA case of cryopyrin-associated periodic syndrome with kidney transplant failure | SpringerLink

Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome. Ren Fail. 2013;35:738-41. ... Use of canakinumab in the cryopyrin-associated periodic syndrome. New Engl J Med. 2009;360:2416-25.CrossRefPubMedGoogle Scholar ... Cryopyrin-associated periodic syndrome Autoinflammatory disease Interleukin-1 Amyloidosis Kidney transplantation Anakinra ... The cryopyrin-associated periodic syndrome (CAPS) is an autosomal dominant autoinflammatory disease characterized by fever, ...
more infohttps://link.springer.com/article/10.1007%2Fs13730-014-0129-y

AllergyCases.org: Cryopyrin-associated periodic syndromes (CAPS)AllergyCases.org: Cryopyrin-associated periodic syndromes (CAPS)

Cryopyrin-associated periodic syndromes (CAPS). Cryopyrin-associated periodic syndromes (CAPS) or cryopyrinopathies include:. ... Hereditary periodic-fever syndromes or cryopyrin-associated periodic syndromes (CAPS) affect fewer than 500 patients worldwide. ... Cryopyrin-associated periodic syndromes. UpToDate, 2009.. A fever gene comes in from the cold. Daniel L. Kastner & John J. ... IL-1 Trap or Rilonacept (Arcalyst) is used for management of cryopyrin-associated periodic syndromes (CAPS). Patients must me ...
more infohttp://www.allergycases.org/2009/06/cryopyrin-associated-periodic-syndromes.html

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated...Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated...

A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes ... A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes ... diseases associated to gain-of-function NLRP3 mutations and included in the cryopyrin-associated periodic syndromes (CAPS). A ... Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and ...
more infohttps://ard.bmj.com/content/74/3/603.abstract

DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromesDNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes

... ... We analyzed DNA methylation levels of inflammasome-related genes in patients with cryopyrin-associated periodic syndromes (CAPS ... DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes ... DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes. ...
more infohttps://sebbm.es/web/es/divulgacion/articulo-mes/1716-dna-demethylation-of-inflammasome-associated-genes-is-enhanced-in-patients-with-cryopyrin-associated-periodic-syndromes

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever...Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever...

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever ... Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever ... Objective To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS ...
more infohttp://ard.bmj.com/content/early/2014/07/18/annrheumdis-2013-204991

Current Treatments for  Cryopyrin-Associated Periodic Syndrome (CAPS)Current Treatments for Cryopyrin-Associated Periodic Syndrome (CAPS)

... care and treatment for patients with Cryopyrin-Associated Periodic Syndromes, including: NOMID/CINCA, Muckle-Wells (MWS) ... Familial Cold Autoinflammatory Syndromes (FCAS), and other autoinflammatory diseases. ... the most severe form of cryopyrin associated periodic syndromes (CAPS). How to inject Kineret This is a nice website about ... rilonacept-granted-european-marketing-authorization-for-treatment-of-cryopyrin-associated-periodic-syndromes-caps-66560322.html ...
more infohttp://autoinflammatory.org/capstreat.php

Two adult siblings with atypical Cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3Two adult siblings with atypical Cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3

... Verma, Deepti ... Mutations in the gene encoding NALP3 (NLRP3) underlie the cryopyrin-associated periodic syndrome (CAPS). The aim of this study ...
more infohttp://oru.diva-portal.org/smash/record.jsf?pid=diva2:384497

NLRP3 Gene Mutations Cause Cryopyrin-Associated Periodic Syndrome (CAPS)NLRP3 Gene Mutations Cause Cryopyrin-Associated Periodic Syndrome (CAPS)

... care and treatment for patients with Cryopyrin-Associated Periodic Syndromes, including: NOMID/CINCA, Muckle-Wells (MWS) ... Familial Cold Autoinflammatory Syndromes (FCAS), and other autoinflammatory diseases. ... NLRP3 encodes cryopyrin, which belongs to an emerging family of danger sensors, called NLRs (NOD-like receptors). When ... A mutation of the NLRP3 gene causes the cryopyrin inflammasome to constantly overproduce IL-1ß instead of producing IL-1ß only ...
more infohttp://autoinflammatory.org/capsgen.php

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)  - UCL DiscoveryDiagnostic criteria for cryopyrin-associated periodic syndrome (CAPS) - UCL Discovery

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Annals of the Rheumatic Diseases , 76 (6) pp. 942-947. ... Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease entity associated with NLRP3 gene mutations and ... Epidemiology, Fever Syndromes, Health services research, Multidisciplinary team-care. UCL classification:. UCL , Provost and ...
more infohttp://discovery.ucl.ac.uk/1527008/

KAKEN - Research Projects | Modeling and analyzing pathogenesis of cryopyrin-associated periodic syndrome using induced...KAKEN - Research Projects | Modeling and analyzing pathogenesis of cryopyrin-associated periodic syndrome using induced...

Cryopyrin-associated periodic syndrome (CAPS) is an severe autoinflammatory syndrome caused by mutations of NLRP3. To ... Modeling and analyzing pathogenesis of cryopyrin-associated periodic syndrome using induced pluripotent stem cells. Research ... Journal Article] Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis2009. *. ...
more infohttps://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-21890118/

Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic...Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic...

Muckle-Wells Syndrome (MWS), and Neonatal Onset Multisystem Inflammatory Disease (NOMID). Canakinumab is a monoclonal antibody ... are a group of rare hereditary autoinflammatory diseases and encompass Familial Cold Autoinflammatory Syndrome (FCAS), ... Cryopyrin-Associated Periodic Syndromes (CAPS), specifically Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells ... The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases and encompass ...
more infohttps://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-139

Safety of vaccinations in patients with cryopyrin-associated periodic syndromes: a prospective registry based studySafety of vaccinations in patients with cryopyrin-associated periodic syndromes: a prospective registry based study

... Author: ... Safety of vaccinations in patients with cryopyrin-associated periodic syndromes: a prospective registry based study. DSpace ...
more infohttps://publikationen.uni-tuebingen.de/xmlui/handle/10900/88654

Cryopyrin-associated periodic syndrome             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramCryopyrin-associated periodic syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... and questions answered by our Genetic and Rare Diseases Information Specialists for Cryopyrin-associated periodic syndrome ... ClinicalTrials.gov lists trials that are related to Cryopyrin-associated periodic syndrome. Click on the link to go to ... was approved for treatment of cryopyrin-assisted periodic syndromes. (CAPS). National Library of Medicine Drug Information ... was approved for the treatment of cryopyrin-associated periodic syndromes (CAPS), in adults and children 4 years of age and ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=29339

Brief Report: Severe Inflammation Following Vaccination Against Streptococcus pneumoniae in Patients With Cryopyrin-Associated...Brief Report: Severe Inflammation Following Vaccination Against Streptococcus pneumoniae in Patients With Cryopyrin-Associated...

... adverse reactions to pneumococcal vaccination in each of 7 consecutive patients with cryopyrin-associated periodic syndromes ( ... Inflammation Following Vaccination Against Streptococcus pneumoniae in Patients With Cryopyrin-Associated Periodic Syndromes. ... Inflammation Following Vaccination Against Streptococcus pneumoniae in Patients With Cryopyrin-Associated Periodic Syndromes. ...
more infohttp://www.vanopijnenlab.com/news/2016/2/13/brief-report-severe-inflammation-following-vaccination-against-streptococcus-pneumoniae-in-patients-with-cryopyrin-associated-periodic-syndromes

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever...Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever...

To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the ... Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever ... Cryopyrin-Associated Periodic Syndromes/complications. *Cryopyrin-Associated Periodic Syndromes/genetics*. *Cryopyrin- ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=huge&id=111561
  • This cytokine plays a fundamental role in regulating systemic, but also certain cutaneous inflammatory responses, and recently acquired knowledge regarding the processing and activation of IL-1 beta (IL-1β) has taught us that it is implicated in the pathogenesis of an emerging family of autoinflammatory diseases and fever syndromes [4, (smw.ch)
  • A research team from the University of Helsinki, Helsinki University Hospital and Folkhälsan Institute of Genetics in Helsinki, Finland, have identified a new genetic mutation that alters the function of cryopyrin and leads to a life-long periodic inflammation of the cornea, the transparent window of the human eye. (news-medical.net)