Rare autoinflammatory disease. Medical search. Frequent questions

It turned out my son at that point had developed Macrophage Activation Syndrome and his disease was deathly serious and would not have survived if we hadn't spoken up. (chriskinchlea.ca)
Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain. (medlineplus.gov)
In people with familial cold autoinflammatory syndrome type 2, the most common symptom that occurs during an episode is a fever. (medlineplus.gov)
Additional features of familial cold autoinflammatory syndrome type 2 include abdominal pain, diarrhea, headache, and nausea. (medlineplus.gov)
Familial cold autoinflammatory syndrome type 2 is a very rare condition. (medlineplus.gov)
Familial cold autoinflammatory syndrome type 2 is caused by variants (also known as mutations) in the NLRP12 gene. (medlineplus.gov)
Impairment of the body's mechanisms for controlling inflammation results in the episodes of skin rash, fever, and joint pain seen in familial cold autoinflammatory syndrome type 2. (medlineplus.gov)
Additional changes in the NLRP12 gene or changes in other genes may influence the severity of familial cold autoinflammatory syndrome type 2, but little is known about how these changes contribute to the condition. (medlineplus.gov)
In some families, individuals with an NLRP12 gene variant may develop familial cold autoinflammatory syndrome type 2 but others with the variant do not, which is a situation known as reduced penetrance. (medlineplus.gov)
A hyperinflammatory 'cytokine storm' state termed macrophage activation syndrome (MAS), culminating from a complex interplay of genetics, immunodeficiency, infectious triggers and dominant innate immune effector responses, can develop across disparate entities including systemic juvenile idiopathic arthritis (sJIA) and its counterpart adult-onset Still disease (AOSD), connective tissue diseases, sepsis, infection, cancers and cancer immunotherapy. (nature.com)
Although macrophage activation syndrome (MAS) is often termed autoinflammatory in both loss and gain of function phenotypes, adaptive lineage cells, especially T cells, are clearly important in both settings. (nature.com)
The most common autoimmune pathologies with ocular manifestations include rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), connective-tissue disorders ( Sjögren syndrome , scleroderma , relapsing polychondritis), and vasculitis ( granulomatosis with polyangiitis [GPA], polyarteritis nodosa , and, rarely, Behcet disease ). (medscape.com)
Patients with ocular manifestations of autoinflammatory diseases often have keratoconjunctivitis sicca (dry eye syndrome), which can cause corneal ulceration. (medscape.com)
Of note, patients with a poor corneal surface, especially those with systemic diseases in whom keratoconjunctivitis sicca (dry eye syndrome) often also is present, are at increased risk for corneal infection. (medscape.com)
Sweet syndrome is a rare disorder characterized by fever and the sudden onset of a rash, which consists of multiple tender, red or bluish-red bumps or lesions. (rarediseases.org)
90% of patients and Systemic capillary leak syndrome (SCLS), also provides them with a statistically signifi cant survival known as Clarkson disease, is a rare disease of advantage compared with those patients who were unknown etiology that most commonly develops in not treated with IVIg ( 5 , 6 ). (cdc.gov)
We continue to focus on discovering and delivering innovative medicines for complex, less-explored immunological diseases where there is significant unmet need, such as hidradenitis suppurativa and Sjögren's syndrome, lupus and osteoarthritis. (novartis.com)
and neonatal-onset multisystem inflammatory disease (NOMID), also called chronic infantile neurologic cutaneous articular (CINCA) syndrome. (bioprocessintl.com)
One special buddy was Isaac Barchus, who has a rare autoinflammatory disease called CANDLE Syndrome. (nih.gov)
X-linked reticulate pigmentary disorder (XLPDR, Mendelian Inheritance in Man #301220) is a rare syndrome characterized by recurrent infections and sterile multiorgan inflammation. (jci.org)
Macrophage activation syndrome (MAS) is a known, life-threatening disorder that may develop in patients with rheumatic conditions, in particular Still's disease, and should be aggressively treated. (medjournal360.com)
The other two CIAS1-associated disorders are familial cold autoinflammatory syndrome (FCAS), which presents with cold-induced fevers and urticaria, and Muckle-Wells syndrome (MWS), which presents with fevers and urticaria not clearly linked to cold exposure, as well as sensorineural hearing loss, and, in some cases, amyloidosis. (grantome.com)
Blau Syndrome (BS), a rare autoinflammatory disease characterized by non-caseating granulomas, is caused by gain-of-function mutations in NOD2. (biomedcentral.com)
Defects in CIAS1 are a cause of familial cold autoinflammatory syndrome. (lu.se)
Schnitzler syndrome is an autoinflammatory disease characterized by chronic, nonpruritic urticaria in association with monoclonal gammopathy. (medscape.com)
Schnitzler syndrome is an autoinflammatory disease for which the exact pathophysiology remains unclear but seems to involve the innate immune system. (medscape.com)
Hyper-IgD syndrome is a rare autosomal recessive disorder in which recurring attacks of chills and fever begin during the first year of life. (msdmanuals.com)
Ulcers with similar clinical features but rarely resolving spontaneously with age may be associated with systemic conditions such as Behçet syndrome, auto-inflammatory syndromes, gastrointestinal disease, or immune defects such as HIV/AIDS. (medscape.com)
and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations. (bvsalud.org)
Nakajo-Nishimura syndrome is an inherited inflammatory disease that usually begins in early infancy with a perniolike rash, periodic high fever, and nodular erythemalike eruptions, with gradually progressive partial lipoatrophy of the upper body, mainly the face and the upper extremities. (medscape.com)

Dr. Donahue is exploring gene therapy methods for familial atrial fibrilla tion (AF), a rare inherited condition that disrupts the heart's normal rhythm. (umassmed.edu)
A mechanism of tolerance towards intestinal flora is thought to be implicated in the onset of a rare familial autoinflammatory disease induced by cold temperatures. (inserm.fr)
Aberrant IL-1 signaling also appears to play a role in the pathogenesis of familial Mediterranean fever (FMF), which is caused by mutations in a protein we discovered several years ago and named pyrin, and in adult-onset Still?s disease, a disorder currently without identified genetic associations that presents with spiking fevers, evanescent salmon-colored rash, arthritis, and hepatosplenomegaly. (grantome.com)

Recommendations for the management of autoinflammatory diseases. (msdmanuals.com)

Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults. (cdc.gov)
Prior to today's approval, patients had no FDA-approved treatments for their disease, which can include symptoms such as painful arthritis, fevers and rash," said Nikolay Nikolov, M.D., acting director of the Division of Rheumatology and Transplant Medicine in the FDA's Center for Drug Evaluation and Research. (medjournal360.com)
During a drug withholding phase of the study, all 11 patients who participated developed rash, joint pain, headaches, fevers, and other clinical signs and symptoms that were present before their disease was treated with anakinra. (grantome.com)
Classification criteria for autoinflammatory recurrent fevers. (msdmanuals.com)

He is an expert in rheumatic diseases affecting children and teenagers, including autoinflammatory syndromes. (autoinflammatorydiseases.com)
This booklet will help you understand what hereditary recurrent fever syndromes are, their most common symptoms, how these autoinflammatory diseases work, how they are diagnosed, and how you or anyone affected by periodic fever syndromes learn to live with these life-changing conditions. (autoinflammatorydiseases.com)
Although not FDA-approved, anakinra is sometimes used for systemic juvenile idiopathic arthritis (SJIA), Adult-Onset Still's Disease (AOSD), gout, and other autoinflammatory syndromes. (rheumatology.org)
Niche Disease: CAPS by Cheryl Scott Cryopyrin-associated periodic syndromes (CAPS) are rare, inherited, autoinflammatory diseases with similar genetics and overlapping symptoms. (bioprocessintl.com)
Their study, published in Science Advances , highlights the importance of gene network concept "imprinted" in the diagnosis and treatment of patients with these rare syndromes. (inserm.fr)
Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. (msdmanuals.com)
Since then, it has been approved for the treatment of several other autoinflammatory diseases, including Still's disease and recurrent fever syndromes. (medscape.com)
Lipodystrophy syndromes represent a group of rare, heterogeneous disorders characterized by progressive loss of fat tissue, mainly from the subcutaneous compartment and occasionally from visceral fat. (medscape.com)

Autoinflammatory diseases (AIDs) are a group of rare disorders caused by dysfunction of the innate immune system. (wikipedia.org)
In NOMID, systemic juvenile idiopathic arthritis, Adult-Onset Still's Disease, gout, and other autoinflammatory disorders, anakinra may begin to relieve symptoms within hours. (rheumatology.org)
CORD is Canada's national network for organizations representing all those with rare disorders. (autoinflammatorydiseases.com)
1. Sanchez GAM, de Jesus AA, Goldbach-Mansky R. Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation. (muzoktcrb.ru)
Scientists at CeMM, Max Perutz Labs, and St. Anna Children's Cancer Research Institute have achieved a significant advancement in the research of rare immune system disorders. (cemm.at)
Moreover, the study reveals for the first time the strong similarities between the molecular mechanisms of rare diseases and autoimmune and autoinflammatory conditions, such as chronic inflammatory bowel disorders, multiple sclerosis, and specific types of diabetes. (cemm.at)
Malabsorption in gastrointestinal disorders: About 3% of patients experience these disorders, particularly celiac disease (gluten-sensitive enteropathy) but, occasionally, Crohn disease, pernicious anemia, and dermatitis herpetiformis. (medscape.com)

Both are characterized by an immune system malfunction which may cause similar symptoms, such as rash, swelling, or, fatigue, but the cardinal cause or mechanism of the diseases are different. (wikipedia.org)
By 2010, Goldbach-Mansky had seen two more children with the same symptoms and suspected that all three patients had the same disease. (mentalhelp.net)
It develops in early life and can cause a wide range of symptoms, including psychomotor and developmental retardation, hypotonia (weak muscle tone), encephalopathy (brain disease or damage), seizures, and early death. (umassmed.edu)
Patients without signs and symptoms of systemic inflammatory disease can be managed as outpatients with empiric anti-inflammatories and short-term follow-up after one week to assess the response to treatment. (escardio.org)
Therefore, pharmacological neutralization of IL-1 in chronic inflammatory diseases is a meaningful strategy to treat inflammation and to alleviate respective clinical symptoms in man. (novartis.com)
With greater understanding of this rare pathology and its signs and symptoms, review authors believe this understanding could prompt early and necessary intervention. (dermatologytimes.com)
A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. (bvsalud.org)

There are numerous NLRP3 mutations that cause NLRP3-associated autoinflammatory diseases (NLRP3-AIDs), mostly in or around the NACHT domain. (whiterose.ac.uk)
The condition is typically caused by rare mutations in genes regulating the electrical impulses that control heartbeat rhythm and the muscle fibers that enable heart contractions, in the top chambers of the heart known as the atria. (umassmed.edu)
But when mutations occur in genes involved in metabolism, the body cannot properly break down nutrients and convert them into energy, leading to rare diseases known as inborn errors of human metabolism. (umassmed.edu)
Interestingly, toxic buildup of 2-HG is also found in a rare and usually fatal brain cancer known as glioblastoma, which is most often caused by mutations in the IDH1 gene. (umassmed.edu)
CAPS is a rare, life-long, auto-inflammatory condition, caused by NLRP3 activating mutations and is classified as an orphan disease. (thehindubusinessline.com)
The autoinflammatory condition is associated with mutations in the NOD2 gene and usually affects children younger than 4 years. (dermatologytimes.com)
Different mutations in the SERPINA1 gene result in alpha-1 antitrypsin (AAT) deficiency and in an increased risk for the development of liver diseases. (isciii.es)

Genetic specialists are also important to consider as they can provide information on the cause of the disease. (autoinflammatorydiseases.com)
Novartis Gene Therapies is dedicated to developing and commercializing gene therapies for patients and families devastated by rare and life-threatening neurological genetic diseases. (novartis.com)
Dr. Walhout's project aims to characterize the genetic and dietary mechanisms of 2-HG accumulation, toxicity, and its ability to cause disease. (umassmed.edu)
This is the finding of researchers from the Center for Infection and Immunity of Lille (Inserm/Université de Lille/CNRS/University Hospital Lille/Institut Pasteur de Lille), the Pathophysiology of Pediatric Genetic Diseases laboratory (Inserm/Sorbonne Université) and the Department of Immunology at the University of Hohenheim. (inserm.fr)
There are currently no FDA-approved therapies for the rare, genetic disease. (dermatologytimes.com)
The advent of genetic therapies is set to make rare diseases a major area of innovation, with single gene defects being the ideal targets for the development of advanced medicinal therapy products, such as gene therapy and other innovative genetic therapies (e.g. mRNA therapy and antisense oligonucleotide therapy). (biomedcentral.com)
Genetic Testing Our blog post and downloadable pdf of US genetic testing panels for autoinflammatory diseases. (autoinflammatory-search.org)

Systemic juvenile idiopathic arthritis (sJIA), adult-onset Still's disease (AOSD), gout, and pseudogout: rheumatologist. (aetna.com)
Doctors later diagnosed him with an incredibly rare systemic autoinflammatory disease, Adult-onset Still's, and he passed away just weeks later. (hulldailymail.co.uk)
The U.S. Food and Drug Administration today approved Ilaris (canakinumab) injection for the treatment of Active Still's disease, including Adult-Onset Still's Disease (AOSD). (medjournal360.com)
Racial/Ethnic variations in morbidity and mortality in Adult Onset Still's Disease: An analysis of national dataset. (cornell.edu)
OBJECTIVES: Adult Onset Still's Disease (AOSD) is a rare autoinflammatory disorder. (cornell.edu)

Yike is a pediatric rheumatology fellow studying anti-MOG inflammatory brain disease. (duke.edu)
KOURIR is the French parent association for JIA and all kinds of pediatric rheumatic diseases. (autoinflammatorydiseases.com)
Researchers conducted a review of treatments for the rare disease in the pediatric population. (dermatologytimes.com)

Autoinflammatory diseases are a separate class from autoimmune diseases. (wikipedia.org)
A key difference is a malfunction of the innate immune system in AIDs, while in autoimmune diseases there is a malfunction of the adaptive immune system. (wikipedia.org)
Patients with other autoimmune diseases were excluded. (cornell.edu)

The IL-1 Trap protocol is still open for enrollment, having accrued 8 of a target 15 patients with FCAS/MWS, adult-onset Still?s disease, or colchicine-resistant FMF. (grantome.com)
FCAS is rare autosomal dominant systemic inflammatory disease characterized by episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold. (lu.se)

Visit Autoinflammatory Alliance/SAID Support's profile on Pinterest. (saidsupport.org)
The Autoinflammatory Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness , proper diagnosis. (autoinflammatorydiseases.com)
The Autoinflammatory Alliance is very pleased to have our new 2015 Holiday Ornament in stock! (saidsupport.org)
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. (saidsupport.org)

Classifying MAS using the immunological disease continuum model, with strict boundaries that define the limits of innate and adaptive immunity, at one boundary is MAS with loss of immune function, as occurs in the 'perforinopathies' and some cases of sJIA-AOSD. (nature.com)
AOSD is a rare and serious autoinflammatory disease of unknown origin. (medjournal360.com)
The overlapping features of AOSD and SJIA suggest this is a disease continuum rather than two separate diseases. (medjournal360.com)
The safety and efficacy of Ilaris for the treatment of patients with AOSD was established using comparable pharmacokinetic exposure and extrapolation of established efficacy of canakinumab in patients with SJIA, as well as the safety of canakinumab in patients with AOSD and other diseases. (medjournal360.com)

Generalized pustular psoriasis (GPP) is a rare, chronic, and severe inflammatory skin disorder characterized by sudden eruption of sterile pustules, often accompanied by systemic inflammation. (springer.com)

Patients with AIDs often suffer from noninfectious fever and systemic and/or disease-specific organ inflammation. (wikipedia.org)
That, again, can lead to systemic inflammation and severe inflammatory bowel disease (IBD). (wikipedia.org)
Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. (medlineplus.gov)
It's an autoinflammatory disease, involving an immune-system malfunction that causes prolonged inflammation that in turn can damage the body. (mentalhelp.net)
Anakinra is a biologic drug that helps to decrease inflammation in rheumatoid arthritis (RA) and other inflammatory diseases. (rheumatology.org)
These diseases are associated with dysregulations in the innate immune system and are characterized by inflammation in the body. (jircohorte.org)
Ilaris works by blocking the effects of IL-1 and suppressing inflammation in patients with this autoinflammatory disorder. (medjournal360.com)

Anakinra is FDA-approved to treat rheumatoid arthritis, deficiency of interleukin-1 antagonist, and neonatal-onset multisystem inflammatory disease (NOMID). (rheumatology.org)
In children with NOMID and other autoinflammatory diseases, the dose is adjusted based on patient weight. (rheumatology.org)
Bone deformities and neurological impairments have been reported in Neonatal Onset Multisystem Inflammatory Disease (NOMID), the most severe form of CAPS. (pipelinereview.com)

Reduced POLA1 expression in this condition triggers spontaneous type I interferon expression, which can be linked to the autoinflammatory manifestations of the disease. (jci.org)

Zydus is now planning to conduct further pivotal clinical trials and is committed to develop ZYIL1 for patients living with CAPS and other chronic inflammatory diseases. (pipelinereview.com)
Canakinumab is a high-affinity human monoclonal antibody designed to target human IL-1 in inflammatory diseases. (novartis.com)
This review focusses on the molecular and clinical mode of action and pharmaceutical development of canakinumab in (auto)inflammatory diseases. (novartis.com)
Conclusion: The covid-19 pandemic has had a significant impact on the follow-up of patients with systemic inflammatory diseases. (bvsalud.org)

Considering the boundaries of immunodeficiency and immune hypersensitivity in MAS related to systemic juvenile idiopathic arthritis and adult-onset Still disease, and the role of lymphoid cells, severe COVID-19 is generally a distinctive lung-specific immunopathology. (nature.com)

We aimed to describe the epidemiology, disease severity, and microbiology of bronchiolitis during the 2022-2023 cold season compared to the previous five years. (authorea.com)

The patient journey to diagnosis and treatment of autoinflammatory diseases. (cdc.gov)
The network is made up of accredited centers, specifically identified by the regions as centers authorized to provide services aimed at the diagnosis and treatment of rare diseases, according to agreed clinical protocols. (gsdinternational.com)

FRIDAY, July 18, 2014 (HealthDay News) -- Researchers say they've identified a gene mutation tied to a rare but severe, and often fatal, disease in children. (mentalhelp.net)
At Novartis, our focus is on improving the lives of the hundreds of millions of people living with respiratory diseases, including chronic obstructive pulmonary disease (COPD) and severe allergic asthma. (novartis.com)
Portal Hypertension (PH) is a severe consequence of liver diseases, causing more than 2 million (4% of all) deaths worldwide each year. (cemm.at)
Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick disease type A (NPA), type B (NPB) and type A/B (NPA/B), is a rare lysosomal storage disease characterized by progressive accumulation of sphingomyelin (SM) in the liver, lungs, bone marrow and, in severe cases, neurons. (isciii.es)
Earlier age of onset along with many bone lesions is associated with more severe disease. (autoinflammatory-search.org)
In pregnancy, more severe renal disease is associated with a risk of intrauterine growth retardation, prematurity, and fetal death. (medscape.com)

The pathogenesis of corneal ulcers associated with autoinflammatory diseases is unclear. (medscape.com)

Orphanet provides access to a directory of expert services and centers for rare diseases or groups of diseases. (autoinflammatorydiseases.com)

This provides that even single-cytokine dysregulation can cause autoinflammatory diseases. (wikipedia.org)

As a result, we have already helped transform the standard of care for children and adults suffering from conditions such as psoriatic disease and axial spondyloarthritis, chronic urticaria, and a number of rare autoinflammatory diseases. (novartis.com)
Grupo de enfermedades autosómicas dominantes poco frecuentes, caracterizadas usualmente por URTICARIA (habones) atípica con síntomas sistémicos que derivan en daño al órgano diana. (bvsalud.org)

Behçet's disease is a rare, vascular autoinflammatory illness that is little understood. (presswarehouse.com)

[19] [22] Chronic nonbacterial osteomyelitis (CNO) is considered part of the spectrum of bone diseases with CRMO and SAPHO, but may be more self-limiting, and less chronic than CRMO or SAPHO. (autoinflammatory-search.org)

In 2004, Dr. Raphaela Goldbach-Mansky of the U.S. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) was asked to assist in the case of a 10-year-old girl with SAVI that had not responded to any medications. (mentalhelp.net)
The U.S. National Institute of Arthritis and Musculoskeletal and Skin Diseases has more about autoinflammatory diseases . (mentalhelp.net)
Arthritis in children and youth is a group of rare and ultra-rare diseases. (ejprarediseases.org)
Together, we will improve the lives of children living with arthritis, reduce inequities and pave the way for improved lives for people of all ages living with rare diseases. (ejprarediseases.org)

Here, we present a patient with a rare leucine-rich repeat (LRR) domain mutation, p.Arg920Gln (p.R920Q), associated with an atypical NLRP3-AID with recurrent episodes of sore throat and extensive oropharyngeal ulceration. (whiterose.ac.uk)

Dr. Donahue has had longstanding interests and successes in developing innovative gene therapy methods and novel animal models of heart disease. (umassmed.edu)
Ultimately, the gene transfer methods developed in this pilot project could be applied to the development of treatment strategies for not only other rare inherited heart diseases but also for the more common forms of AF. (umassmed.edu)

Pluripotent stem cell-based drug screening reveals cardiac glycosides as modulators of DM1 These results further underscore the value of stem-cell-based assays for drug discovery in monogenic diseases. (institut-myologie.org)

One is a milder, unilateral, less progressive form of the disease generally seen in elderly patients that responds well to therapy. (medscape.com)
The second type is a much more aggressive, frequently bilateral, relentless disease usually seen in younger patients that is poorly responsive to any therapy and often leads to corneal destruction. (medscape.com)
The pathogenesis of polyarteritis nodosa is not clear, but, in some patients, it may be related to hepatitis B antigen-associated immune complex disease or other immune complexes. (medscape.com)
RareConnect is a safe, easy to use platform where rare disease patients, families. (autoinflammatorydiseases.com)
Acute pericarditis is a self-limiting disease without significant complications or recurrences in 70% to 90% of patients. (escardio.org)
Diagnosis of respiratory diseases: Development of a new non-invasive method for the evaluation of diaphragm function This new method could represent an alternative to standard invasive methods, which rely on the use of probes inserted into patients' esophagus and stomach. (institut-myologie.org)
Collaborative efforts are crucial in studying rare diseases like AIDs, as they enable researchers to overcome limitations and improve the quality of medical care for affected patients. (jircohorte.org)
The PC Project provides patients with access to the International PC Research Registry for clinical help with their rare and painful skin condition. (dermatologytimes.com)
Patients with the rare autosomal recessive genodermatosis are prone to extreme photosensitivity and changes in skin pigmentation. (dermatologytimes.com)
This new series will explore the strategies and solutions which have been developed, tested, validated and/or deployed, in order to improve diagnosis of rare disease patients. (biomedcentral.com)
Many orphan devices provide essential functions for patients with rare diseases, their carers, and the healthcare professionals using them. (biomedcentral.com)
Nevertheless, there are very few medical devices that are specifically developed for rare diseases, while many patients and carers express a substantial unmet need for new medical devices for their conditions. (biomedcentral.com)
This new series will explore the questions which need to be answered, in order to raise the profile of this field, helping current and future rare disease patients worldwide. (biomedcentral.com)
Our new thematic series, guest edited by David Adams, delves into the challenges and opportunities which exist for patients living with undiagnosed rare diseases. (biomedcentral.com)
Some patients also have inflammatory bowel diseases. (autoinflammatory-search.org)
Rare diseases are a large group of diseases (5,000-6,000) that defined by the low prevalence in the population, i.e. each of these diseases affects no more than 5 patients in 10,000 inhabitants. (gsdinternational.com)
HLA DRW10 and DQW1 may predispose patients with celiac disease to oral ulceration. (medscape.com)
Les patients étaient inclus en accord avec les critères de consensus internationaux. (bvsalud.org)
Elle a mis en exergue l'intérêt de la réorganisation de la prise en charge de ces patients en période de crise sanitaire, l'éducation thérapeutique des patients et le recours à la télémédecine pour assurer la continuité des soins. (bvsalud.org)

She maintains an active interest in infectious diseases, innate immunity, and neuroimmunology. (duke.edu)

The disease is called STING-associated vasculopathy with onset in infancy (SAVI). (mentalhelp.net)
Diseases such as lupus share some characteristics with SAVI, so this work may lead to novel insights and possibly new treatments for these debilitating conditions as well," he explained. (mentalhelp.net)
In laboratory studies, several existing drugs have shown promise against SAVI, and one is currently being tested in children with the disease, the researchers said. (mentalhelp.net)
Dr. Fitzgerald is exploring a potential therapy for a rare autoinflammatory disease called SAVI (STING-associated vasculopathy with onset in infancy), which is part of a group of diseases collectively referred to as interferonopathies . (umassmed.edu)

Less frequently, the autoinflammatory process also can directly attack the cornea, causing peripheral ulcerative keratitis (PUK), a condition that demands aggressive treatment. (medscape.com)
The median value of a disease-specific diary score dropped from 3.70 before treatment to 0.26 after six months of anakinra (p (grantome.com)

Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. (autoinflammatorydiseases.com)
The official journal of Orphanet , the portal for rare diseases and orphan drugs. (biomedcentral.com)

Our understanding of the molecular origin of these diseases, as well as robust biomarkers and therapies are incomplete. (uit.no)
Continuing in International, AFM-Téléthon received the « Pioneer in Technology Development » award for its role in the development of innovative therapies for neuromuscular and rare diseases at the Annual World Congress of Society for Brain Mapping and Therapeutics (SBMT-Brain and Spine). (institut-myologie.org)

Autoinflammatory diseases are caused by abnormalities of the immune system, which trigger an inflammatory response that can damage the body's own tissues. (medjournal360.com)

The full article is available in open access in the Orphan journal of rare disease. (jircohorte.org)
Orphan devices constitute a very diverse group of products, reflecting the broad field of rare disease. (biomedcentral.com)

This article specifically addresses sterile corneal ulcers associated with autoinflammatory diseases. (medscape.com)

The aim of our study was to assess its impact on the follow-up of systemic diseases in Dakar. (bvsalud.org)

Peripheral ulcerative keratitis (PUK) is a rare manifestation of RA characterized by a progressive thinning of the peripheral cornea. (medscape.com)

Classification of autoinflammatory diseases is an active and evolving area of scientific research. (wikipedia.org)

We also demonstrate that additional inflammatory mediators, including the NF-кB and IL-17 signalling pathways and IL-8 chemokine, are upregulated in the patient's macrophages and may be directly involved in disease pathogenesis. (whiterose.ac.uk)

Diseases14

Chemicals and Drugs9

Phenomena and Processes1

SYNDROME30

Familial3

Management of autoinflammatory diseases1

Fevers4

Syndromes8

Disorders7

Symptoms7

Mutations7

Genetic7

Still's5

Pediatric3

Autoimmune diseases3

FCAS2

Alliance4

AOSD4

Disorder characterized1

Inflammation7

NOMID3

Manifestations1

Inflammatory diseases4

Immunodeficiency1

20231

Diagnosis and treatment2

Severe6

Unclear1

Centers1

Dysregulation1

Urticaria2

Vascular1

CRMO1

Arthritis4

NLRP31

Gene2

Monogenic diseases1

Patients19

Infectious diseases1

SAVI4

Treatment2

Orphanet2

Therapies2

Immune1

Orphan2

Sterile1

Systemic diseases1

Manifestation1

Classification1

Pathogenesis1