Autoimmune Lymphoproliferative Syndrome
Lymphoproliferative Disorders
Antigens, CD95
A tumor necrosis factor receptor subtype found in a variety of tissues and on activated LYMPHOCYTES. It has specificity for FAS LIGAND and plays a role in regulation of peripheral immune responses and APOPTOSIS. Multiple isoforms of the protein exist due to multiple ALTERNATIVE SPLICING. The activated receptor signals via a conserved death domain that associates with specific TNF RECEPTOR-ASSOCIATED FACTORS in the CYTOPLASM.
Autoimmune Diseases
Caspase 10
A long pro-domain caspase that contains a death effector domain in its pro-domain region. Activation of this enzyme can occur via the interaction of its N-terminal death effector domain with DEATH DOMAIN RECEPTOR SIGNALING ADAPTOR PROTEINS. Caspase 10 plays a role in APOPTOSIS by cleaving and activating EFFECTOR CASPASES. Several isoforms of this protein exist due to multiple alternative splicing of its MESSENGER RNA.
Anemia, Hemolytic, Autoimmune
Fas Ligand Protein
A transmembrane protein belonging to the tumor necrosis factor superfamily that was originally discovered on cells of the lymphoid-myeloid lineage, including activated T-LYMPHOCYTES and NATURAL KILLER CELLS. It plays an important role in immune homeostasis and cell-mediated toxicity by binding to the FAS RECEPTOR and triggering APOPTOSIS.
Apoptosis
One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.
Mutation
T-Lymphocytes
Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.
Encyclopedias as Topic
Sulfadoxine
Pyrimethamine
Copyright
It is a form of protection provided by law. In the United States this protection is granted to authors of original works of authorship, including literary, dramatic, musical, artistic, and certain other intellectual works. This protection is available to both published and unpublished works. (from Circular of the United States Copyright Office, 6/30/2008)
Dendritic Cells
Specialized cells of the hematopoietic system that have branch-like extensions. They are found throughout the lymphatic system, and in non-lymphoid tissues such as SKIN and the epithelia of the intestinal, respiratory, and reproductive tracts. They trap and process ANTIGENS, and present them to T-CELLS, thereby stimulating CELL-MEDIATED IMMUNITY. They are different from the non-hematopoietic FOLLICULAR DENDRITIC CELLS, which have a similar morphology and immune system function, but with respect to humoral immunity (ANTIBODY PRODUCTION).
Lymphocytes
White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.
Caspases
A family of intracellular CYSTEINE ENDOPEPTIDASES that play a role in regulating INFLAMMATION and APOPTOSIS. They specifically cleave peptides at a CYSTEINE amino acid that follows an ASPARTIC ACID residue. Caspases are activated by proteolytic cleavage of a precursor form to yield large and small subunits that form the enzyme. Since the cleavage site within precursors matches the specificity of caspases, sequential activation of precursors by activated caspases can occur.
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.
Hypophosphatasia
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
Kleine-Levin Syndrome
A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)
De Lange Syndrome
A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
Myasthenia Gravis, Neonatal
A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)
Hypersomnolence, Idiopathic
A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129)
Addison Disease
An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.
Fas stimulation of T lymphocytes promotes rapid intercellular exchange of death signals via membrane nanotubes. (1/30)
(+info)Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). (2/30)
(+info)Primary immunodeficiencies (PIDs) presenting with cytopenias. (3/30)
(+info)Childhood polyarteritis nodosa in autoimmune lymphoproliferative syndrome. (4/30)
(+info)Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. (5/30)
(+info)Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. (6/30)
(+info)ALPS-ten lessons from an international workshop on a genetic disease of apoptosis. (7/30)
(+info)Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. (8/30)
(+info)
Autoimmune Lymphoproliferative Syndrome Clinical Presentation: History, Physical Examination, Complications
Study of Autoimmune Lymphoproliferative Syndrome (ALPS) - Full Text View - ClinicalTrials.gov
Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome - Tabular View - ClinicalTrials.gov
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS | MENDELIAN.CO
Autoimmune Lymphoproliferative Syndrome | Profiles RNS
What is the prognosis of autoimmune lymphoproliferative syndrome (ALPS)?
How is autoimmune lymphoproliferative syndrome (ALPS) classified?
Apoptosis and Its Relevance to Autoimmunity by Keith B. Elkon - ANNE ALMASY Book Archive
Autoimmune lymphoproliferative syndrome - Wikipedia
Autoimmune Lymphoproliferative Syndrome (ALPS)
Autoimmune lymphoproliferative syndrome
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RAS-associated autoimmune leukoproliferative disorder - Wikipedia
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Proposal for a new clinical entity, IgG4-positive multiorgan lymphoproliferative syndrome: analysis of 64 cases of IgG4-related...
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List of OMIM disorder codes
ITCH Autoimmune lymphoproliferative syndrome, type IA; 601859; TNFRSF6 Autoimmune lymphoproliferative syndrome, type II; 603909 ... CASP10 Autoimmune lymphoproliferative syndrome, type IIB; 607271; CASP8 Autoimmune polyendocrinopathy syndrome, type I, with or ... ITK Lymphoproliferative syndrome, X-linked, 2; 300635; BIRC4 Lymphoproliferative syndrome, X-linked; 308240; SH2D1A Lysinuric ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ...
Caspase-8 deficiency
Monogenic autoimmune lymphoproliferative syndromes". In Ian R. Mackay; Noel R. Rose (eds.). The Autoimmune Diseases (5th ed.). ...
Hemophagocytic lymphohistiocytosis
Other conditions that may be confused with this condition include autoimmune lymphoproliferative syndrome. As a syndrome of ... November 2013). "Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis". Pediatrics. 132 ( ... Emperipolesis X-linked lymphoproliferative disease#XLP2 Fisman, David N. (2000). "Hemophagocytic syndromes and infection". ... and myelodysplastic syndrome. Non-malignant disorders associated with secondary HLH include: autoimmune disorders such as ...
CHAI disease
CHAI stands for "Autoimmune lymphoproliferative syndrome due to CTLA4 haplo-insufficiency." The disease is characterized by ... "Orphanet: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency". www.orpha.net. Retrieved 2021-03-01. Lo, ... autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy. It is closely linked to LATIAE ...
Michael J. Lenardo
... including Autoimmune Lymphoproliferative Syndrome, Caspase-8 deficiency syndrome, PASLI disease, XMEN disease, and most ... Autoimmune Lymphoproliferative Syndrome CHAPLE Disease XMEN Disease PASLI Disease "Michael Lenardo, M.D. , NIH: National ...
Lymphocytic interstitial pneumonia
... (LIP) is a syndrome secondary to autoimmune and other lymphoproliferative disorders. ... Patients presenting with no symptoms, and not affected by the syndrome may not require treatment. Corticosteroids have been ... Possible causes of lymphocytic interstitial pneumonia include the Epstein-Barr virus, auto-immune, and HIV. Arterial blood ...
Adenosine deaminase 2 deficiency
"Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis". ... Lee PY (2018). "Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of ... each reporting systemic inflammation and vasculitis syndromes caused by mutations in ADA2. The DADA2 Foundation was formed in ... including bone marrow failure syndromes". Haematologica. 105 (1): e1-e4. doi:10.3324/haematol.2019.216069. PMC 6939539. PMID ...
Fas receptor
Poppema S, Maggio E, van den Berg A (March 2004). "Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) ... Yonehara S (2003). "Death receptor Fas and autoimmune disease: from the original generation to therapeutic application of ...
Caspase 10
GeneReviews/NCBI/NIH/UW entry on Autoimmune Lymphoproliferative Syndrome The MEROPS online database for peptidases and their ... Mutations in this gene are associated with apoptosis defects seen in type II autoimmune lymphoproliferative syndrome. Three ... Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type ...
Fas ligand
Germline mutation of Fas is associated with autoimmune lymphoproliferative syndrome (ALPS), a childhood disorder of apoptosis. ... GeneReviews/NCBI/NIH/UW entry on Autoimmune Lymphoproliferative Syndrome Online Mendelian Inheritance in Man (OMIM): 601859 Fas ... Increases in Fas-mediated signaling have been implicated in the pathology of low-risk myelodysplastic syndromes (MDS) and ... Therapeutic rationales for the suppression of Fas signaling in the context of glioblastoma and myelodysplastic syndromes (MDS) ...
HLA-B44
January 2006). "HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 ... Protective effects: HLA-B44 appears to be protective against autoimmune lymphoproliferative syndrome in patients with C95 ...
Death domain
Notably, the Fas death domain can have mutations that lead to Autoimmune lymphoproliferative syndrome, lung cancer, and ...
Stephen Straus
In the early 1990s, Straus and colleagues discovered autoimmune lymphoproliferative syndrome (ALPS), a rare genetic disorder in ... "A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease.", Journal of Clinical Investigation, 90 (2 ... and for his discovery of the autoimmune lymphoproliferative syndrome genetic disorder. He headed the Laboratory of Clinical ... International Chronic Fatigue Syndrome Study Group (1994), "The Chronic Fatigue Syndrome: A Comprehensive Approach to Its ...
Decoy receptor 3
GeneReviews/NCBI/NIH/UW entry on Autoimmune Lymphoproliferative Syndrome This article incorporates text from the United States ...
Alps (disambiguation)
... an English band Autoimmune lymphoproliferative syndrome, a form of lymphoproliferative disorder Alpes (disambiguation) Alp ( ...
RASopathy
Capillary malformation-AV malformation syndrome Autoimmune lymphoproliferative syndrome Cardiofaciocutaneous syndrome ... Noonan-like Legius syndrome, Noonan-like Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan- ... The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that ... RASopathies Network USA, founded 2010 rasopathiesnet.org, accessed February 27, 2014 About RAS Pathway Syndromes RASopathy ...
Castleman disease
... rheumatoid arthritis Lymphoproliferative disorders: lymphoma, autoimmune lymphoproliferative syndrome Unicentric Castleman ... TAFRO Syndrome: a constellation of clinical symptoms reported in some iMCD and HHV-8 associated MCD patients. The clinical ... Castleman disease is a group of uncommon lymphoproliferative disorders characterized by lymph node enlargement, characteristic ... "Clinicopathologic analysis of TAFRO syndrome demonstrates a distinct subtype of HHV-8-negative multicentric Castleman disease ...
ALPS
... a multinational corporation based in Japan Autoimmune lymphoproliferative syndrome ALPS, Advanced Liquid Processing System made ...
Index of molecular biology articles
... autoimmune lymphoproliferative syndrome - autoradiography - autosomal dominant - autosome - avidin - BAC - back mutation - ... Fragile X syndrome - frameshift mutation - fusion protein - gel electrophoresis - gel shift - gel shift assay - gene - gene ... syndrome - T7 RNA polymerase - taq polymerase - TATA box - technology transfer - template - termination codon - terminator - ... Alagille syndrome - alkaline lysis - allele - amino acids - amino terminus - amp resistance - amplification - amplicon - anchor ...
Primary immunodeficiency
... syntaxin 11 deficiency X-linked lymphoproliferative syndrome Syndromes with autoimmunity: (a) Autoimmune lymphoproliferative ... ataxia-like syndrome, Nijmegen breakage syndrome, Bloom syndrome DiGeorge syndrome (when associated with thymic defects) ... Hyper-IgD syndrome (HIDS) CIAS1-related diseases: Muckle-Wells syndrome Familial cold autoinflammatory syndrome Neonatal onset ... Schimke syndrome Hermansky-Pudlak syndrome type 2 Hyper-IgE syndrome Chronic mucocutaneous candidiasis Hepatic venoocclusive ...
Cancer syndrome
Examples of autosomal dominant cancer syndromes are autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), Beckwith- ... Lynch syndrome), Howel-Evans syndrome of eosophageal cancer with tylosis, juvenile polyposis syndrome, Li-Fraumeni syndrome, ... Birt-Hogg-Dubé syndrome, Carney syndrome, familial chordoma, Cowden syndrome, dysplastic nevus syndrome with familial melanoma ... Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is an autosomal dominant cancer syndrome in which ...
Lymphoproliferative disorders
... post-transplant lymphoproliferative disorder autoimmune lymphoproliferative syndrome (ALPS) "Lymphoid interstitial pneumonia" ... Some children with autoimmune lymphoproliferative disorders are heterozygous for a mutation in the gene that codes for the Fas ... virus-associated lymphoproliferative diseases Castleman disease X-linked lymphoproliferative disease Lymphoproliferative ... and malignant Epstein-Barr virus-associated lymphoproliferative diseases. Evans syndrome Leukaemia Lymphoma Lymphocytosis ...
Evans syndrome
2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... T cells which is a strong predictor for having autoimmune lymphoproliferative syndrome. Evans syndrome is considered a very ... primary Evans syndrome: 10.9 years; secondary Evans syndrome: 1.7 years). Secondary Evans syndrome was associated with higher ... Evans syndrome is an autoimmune disease in which an individual's immune system attacks their own red blood cells and platelets ...
Autoimmune lymphoproliferative syndrome
... (ALPS), is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte ... 2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... 2006). "Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS)". Blood. 108 (6 ... "Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: A multi-institutional study". Blood. 115 ( ...
RAS-associated autoimmune leukoproliferative disorder
It shares many features with autoimmune lymphoproliferative syndrome and is caused by somatic mutations in NRAS or KRAS. This ... Oliveira JB (2013). "The expanding spectrum of the autoimmune lymphoproliferative syndromes". Current Opinion in Pediatrics. 25 ... "Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation". Blood. 117 (10): 2887-2890. doi:10.1182/blood ... "NRAS mutation causes a human autoimmune lymphoproliferative syndrome". Proc. Natl. Acad. Sci. USA. 104 (21): 8953-8958. Bibcode ...
Epstein-Barr virus-associated lymphoproliferative diseases
... the autoimmune lymphoproliferative syndrome, and the WHIM syndrome. 2) Immunosuppressive drug therapy, particularly ... Epstein-Barr virus-associated lymphoproliferative diseases (also termed EBV-associated lymphoproliferative diseases or EBV+ LPD ... or the Wiskott-Aldrich syndrome. They may also have, again based on case reports, a history of inflammatory/autoimmune diseases ... EBV-associated B cell lymphoproliferative disorders, EBV-associated NK/T cell lymphoproliferative disorders, EBV-associated ...
List of primary immunodeficiencies
... syntaxin 11 deficiency X-linked lymphoproliferative syndrome Syndromes with autoimmunity: (a) Autoimmune lymphoproliferative ... Factor H deficiency Thrombomodulin deficiency CHAPEL disease Autoimmune lymphoproliferative syndrome RAS-associated autoimmune ... syndrome Nijmegen breakage syndrome Bloom syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1, 2 ... Singleton-Merten syndrome TNF receptor associated periodic syndrome (TRAPS) Hyper-IgD syndrome (Mevalonate kinase deficiency) ...
List of syndromes
... uremic syndrome Austrian syndrome Autoimmune disease Autoimmune lymphoproliferative syndrome Autoimmune polyendocrine syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
Juvenile polyposis syndrome
TNFRSF5 (Hyper-IgM syndrome type 3). *TNFRSF13C (CVID4). *TNFRSF13B (CVID2). *TNFRSF6 (Autoimmune lymphoproliferative syndrome ... FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in the gastrointestinal ... polyposis syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN hamartoma tumor syndrome. ...
Hematopoietic stem cell transplantation
Immune deficiency syndromes. *Autoimmune diseases[9]. Many recipients of HSCTs are multiple myeloma[10] or leukemia patients[11 ... The main indications for transplant were lymphoproliferative disorders (55 percent) and leukemias (34 percent), and the ... As survival following the procedure has increased, its use has expanded beyond cancer to autoimmune diseases[4][5] and ... Autoimmune Disease and Lymphoma Working Parties of the European Group for Blood and Marrow Transplantation, the European League ...
White blood cell
WBC proliferative disorders can be classed as myeloproliferative and lymphoproliferative. Some are autoimmune, but many are ... Immune dysfunction - arthritis, systemic lupus erythematosus, Sjögren syndrome, myasthenia gravis, systemic vasculitis, Behcet- ... It is occasionally abnormal, when it is neoplastic or autoimmune in origin. A decrease below the lower limit is called ... Wiskott-Aldrich syndrome, immunodeficiency with short-limbed dwarfism, immunodeficiency with thymoma, purine nucleoside ...
Kallmann syndrome
TNFRSF5 (Hyper-IgM syndrome type 3). *TNFRSF13C (CVID4). *TNFRSF13B (CVID2). *TNFRSF6 (Autoimmune lymphoproliferative syndrome ... FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... "Kallmann syndrome". National Institutes for Health. US Library of Medicine. Genetics Home Reference. December 2017. Retrieved ... olfacto-genital syndrome. Research[edit]. Kisspeptin is a protein that regulates the release of GnRH from the hypothalamus, ...
Angioedema
Immersion foot syndromes Trench foot. Tropical immersion foot. Warm water immersion foot. Chilblains. Frostbite. Aerosol burn. ... Angioedema can be due to antibody formation against C1INH; this is an autoimmune disorder. This acquired angioedema is ... or a lymphoproliferative disorder.[1] ... Gleich's syndrome (unexplained angioedema with high eosinophil ... UV-sensitive syndrome. .mw-parser-output .nobold{font-weight:normal}. environmental skin conditions. Electrical burn. ...
Primary central nervous system lymphoma
Lymphoproliferative disorders (X-linked lymphoproliferative disease. *Autoimmune lymphoproliferative syndrome). *Leukemoid ...
Cancer
Autoimmune diseases. There is an association between celiac disease and an increased risk of all cancers. People with untreated ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ... B-cell lymphoproliferative disease and nasopharyngeal carcinoma), Kaposi's sarcoma herpesvirus (Kaposi's sarcoma and primary ... Main article: Cancer syndrome. The vast majority of cancers are non-hereditary (sporadic). Hereditary cancers are primarily ...
Diabetes insipidus
Hyper-IgM syndrome type 1. *IPEX. *X-linked lymphoproliferative disease. *Properdin deficiency ... Autoimmune polyendocrine syndrome multiple *APS1. *APS2. *Carcinoid syndrome. *Multiple endocrine neoplasia *1 ... Diabetes insipidus is also associated with some serious diseases of pregnancy, including pre-eclampsia, HELLP syndrome and ...
Transplant rejection
... as it commonly brings severe cytokine release syndrome and late post-transplant lymphoproliferative disorder. (OKT3 is ... Autoimmune. *Sjögren syndrome. *Autoimmune hepatitis. *Autoimmune polyendocrine syndrome *APS1. *APS2. *Autoimmune adrenalitis ... Airflow obstruction not ascribable to other cause is labeled bronchiolitis obliterans syndrome (BOS), confirmed by a persistent ... and if tissue is left implanted brings systemic inflammatory response syndrome. Of high risk in kidney transplants is rapid ...
Thanatophoric dysplasia
TNFRSF5 (Hyper-IgM syndrome type 3). *TNFRSF13C (CVID4). *TNFRSF13B (CVID2). *TNFRSF6 (Autoimmune lymphoproliferative syndrome ... FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... AMHR2 (Persistent Müllerian duct syndrome II). *TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia ... and Crouzon syndrome with acanthosis nigricans". Endocr. Rev. 21 (1): 23-39. doi:10.1210/er.21.1.23. PMID 10696568.. ...
Immunosuppressive drug
... therapy to prevent the acute rejection reactions as well as a targeted treatment of lymphoproliferative or autoimmune disorders ... In the first few administrations this binding non-specifically activates T-cells, leading to a serious syndrome 30 to 60 ... Treat autoimmune diseases or diseases that are most likely of autoimmune origin (e.g., rheumatoid arthritis, multiple sclerosis ... It is also efficient in the treatment of autoimmune diseases. Cytotoxic antibiotics[edit]. Among these, dactinomycin is the ...
Chronic liver disease
Excessive alcohol use Obesity Metabolic syndrome including raised blood lipids Health care professionals who are exposed to ... Metabolic Non-alcoholic fatty liver disease Haemochromatosis Wilson's disease Autoimmune response causes Primary biliary ... infiltrative haematological disorders such as chronic lymphoproliferative conditions, chronic myeloid leukaemias, myelofibrosis ... varices and rectal varices Synthetic dysfunction Hypoalbuminaemia Coagulopathy Hepatopulmonary syndrome Hepatorenal syndrome ...
Immune disorder
Autoimmune lymphoproliferative syndrome (ALPS). *Hyper IgM syndrome: X-linked disorder that causes a deficiency in the ... Autoimmune diseasesEdit. Main article: Autoimmune disease. An autoimmune disease is a condition arising from an abnormal immune ... Hyperimmunoglobulin E syndrome (also known as Job's Syndrome). *Common variable immunodeficiency (CVID): B-cell levels are ... "Autoimmune diseases fact sheet". OWH. 16 July 2012. Archived from the original on 5 October 2016. Retrieved 5 October 2016.. ...
Leukemia
Lymphoproliferative disorders (X-linked lymphoproliferative disease. *Autoimmune lymphoproliferative syndrome). *Leukemoid ... The disease is restricted to individuals with Down syndrome or genetic changes similar to those in Down syndrome, develops in a ... Smoking, family history, ionizing radiation, some chemicals, prior chemotherapy, Down syndrome.[3][4]. ... Seewald L, Taub JW, Maloney KW, McCabe ER (September 2012). "Acute leukemias in children with Down syndrome". Molecular ...
Graft-versus-host disease
... complete DiGeorge syndrome, increases the risk of autoimmune disease.[27] ... Post-transplant lymphoproliferative disorder. *Transplant rejection. Transplant networks. and government departments. * ... Immersion foot syndromes Trench foot. Tropical immersion foot. Warm water immersion foot. Chilblains. Frostbite. Aerosol burn. ... UV-sensitive syndrome. .mw-parser-output .nobold{font-weight:normal}. environmental skin conditions. Electrical burn. ...
Gluten-sensitive enteropathy-associated conditions
Prurigo nodularis has been identified with coeliac disease.[41][42] Rothmund-Thomson syndrome. Rothmund-Thomson syndrome, or ... Autoimmune thyroidosis[edit]. [Section under construction] Grave's Disease, Hashimoto's thyroiditis. Grave's disease and ... cancer of the esophagus and lymphoproliferative diseases such as gluten-sensitive enteropathy-associated T-cell lymphoma (EATL ... For example, autoimmune thyroiditis is a common finding with GSE. However, GSEs' association with disease is not limited to ...
Non-Hodgkin lymphoma
Lymphoproliferative disorders (X-linked lymphoproliferative disease. *Autoimmune lymphoproliferative syndrome). *Leukemoid ... Genetic diseases, like Klinefelter's syndrome, Chédiak-Higashi syndrome, ataxia telangiectasia syndrome. *Autoimmune diseases, ... Poor immune function, autoimmune diseases, Helicobacter pylori infection, hepatitis C, obesity, Epstein-Barr virus infection[1] ... "Revision of the CDC surveillance case definition for acquired immunodeficiency syndrome. Council of State and Territorial ...
Burkitt's lymphoma
Lymphoproliferative disorders (X-linked lymphoproliferative disease. *Autoimmune lymphoproliferative syndrome). *Leukemoid ... This rapid response to chemotherapy can be hazardous to the patient, as a phenomenon called "tumor lysis syndrome" could occur ...
User:Djd/sandbox/MedNav/Pathology templates
Chronic fatigue syndrome}}. Medicine. Chronic fatigue syndrome. Neurology. Footer. Pathology. Nervous. {{Human corneal ... Hypersensitivity and autoimmune diseases}}. Medicine. Immune disorders: hypersensitivity and autoimmune diseases (279.5-6). ... Hematological malignancy/leukemia histology (ICD-O 9590-9989, C81-C96, 200-208) Lymphoid/Lymphoproliferative, Lymphomas/ ... Paraneoplastic syndromes}}. Medicine. Paraneoplastic syndromes. Oncology templates. Footer. Composite format.. Pathology. ...
Lymphoid leukemia
Lymphoproliferative disorders (X-linked lymphoproliferative disease. *Autoimmune lymphoproliferative syndrome). *Leukemoid ... Such diseases are all lymphoproliferative disorders. Most lymphoid leukemias involve a particular subtype of lymphocytes, the B ...
Haemophilia A
Hyper-IgM syndrome type 1. *IPEX. *X-linked lymphoproliferative disease. *Properdin deficiency ...
FOXP3
AutoimmuneEdit. Mutations or disruptions of the Foxp3 regulatory pathway can lead to organ-specific autoimmune diseases such as ... GeneReviews/NIH/NCBI/UW entry on IPEX Syndrome. *FOXP3+protein,+human at the US National Library of Medicine Medical Subject ... results in the fatal lymphoproliferative disorder of the scurfy mouse". Nature Genetics. 27 (1): 68-73. doi:10.1038/83784. PMID ... In autoimmune disease, a deficiency of regulatory T cell activity can allow other autoimmune cells to attack the body's own ...
Cancer
... known as paraneoplastic syndromes. Common paraneoplastic syndromes include hypercalcemia which can cause altered mental state, ... Autoimmune diseases. There is an association between celiac disease and an increased risk of all cancers. People with untreated ... B-cell lymphoproliferative disease and nasopharyngeal carcinoma), Kaposi's sarcoma herpesvirus (Kaposi's sarcoma and primary ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ...
Epstein-Barr virus
Dreyfus DH (December 2011). "Autoimmune disease: A role for new anti-viral therapies?". Autoimmunity Reviews. 11 (2): 88-97. ... Epstein-Barr virus-associated lymphoproliferative diseases. *James Corson Niederman, the physician who proved how the Epstein- ... Sjögren's syndrome,[9][10] and multiple sclerosis.[11][12][13] About 200,000 cancer cases per year are thought to be ... Toussirot E, Roudier J (October 2008). "Epstein-Barr virus in autoimmune diseases". Best Practice & Research. Clinical ...
Large granular lymphocytic leukemia
T-LGLL is a rare form of leukemia, comprising 2-3% of all cases of chronic lymphoproliferative disorders. LGLL was discovered ... February 1985). "Leukemia of large granular lymphocytes: association with clonal chromosomal abnormalities and autoimmune ... leading to a clinical presentation similar to Felty's syndrome. Signs and symptoms of anemia are commonly found, due to the ... Semenzato G, Zambello R, Starkebaum G, Oshimi K, Loughran TP (January 1997). "The lymphoproliferative disease of granular ...
Autoimmune lymphoproliferative syndrome - Wikipedia
Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome,[1] is a form of lymphoproliferative ... 2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... "Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: A multi-institutional study". Blood. 115 ( ... "Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS)". Blood. 108 (6): 1965- ...
Autoimmune lymphoproliferative syndrome: MedlinePlus Genetics
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number ... medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/ Autoimmune lymphoproliferative syndrome. ... Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number ... The autoimmune lymphoproliferative syndrome: A rare disorder providing clues about normal tolerance. Autoimmun Rev. 2010 May;9( ...
Autoimmune lymphoproliferative syndrome: MedlinePlus Genetics
Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the ... Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number ... medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/ Autoimmune lymphoproliferative syndrome. ... Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number ...
How is autoimmune lymphoproliferative syndrome (ALPS) classified?
Autoimmune Lymphoproliferative Syndrome Q&A How is autoimmune lymphoproliferative syndrome (ALPS) classified?. Updated: Jul 29 ... How is autoimmune lymphoproliferative syndrome (ALPS) classified?) and How is autoimmune lymphoproliferative syndrome (ALPS) ... A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease. Clin ... A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest. 1992 Aug. 90 (2):334-41. [ ...
Autoimmune Lymphoproliferative Syndrome Clinical Presentation: History, Physical Examination, Complications
... and autoimmune cytopenias. In 1995, defective lymphocyte apoptosis secondary to mutations in the FAS gene was identified as a ... Autoimmune lymphoproliferative syndrome (ALPS) is characterized by nonmalignant lymphadenopathy, splenomegaly, ... encoded search term (Autoimmune Lymphoproliferative Syndrome) and Autoimmune Lymphoproliferative Syndrome What to Read Next on ... A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease. Clin ...
Study of Autoimmune Lymphoproliferative Syndrome (ALPS) - Full Text View - ClinicalTrials.gov
Syndrome. Autoimmune Lymphoproliferative Syndrome. Disease. Pathologic Processes. Lymphoproliferative Disorders. Lymphatic ... Autoimmune lymphoproliferative syndrome Genetic and Rare Diseases Information Center resources: Autoimmune Lymphoproliferative ... Study of Autoimmune Lymphoproliferative Syndrome (ALPS). The safety and scientific validity of this study is the responsibility ... Autoimmune lymphoproliferative syndrome is a rare disease that affects both children and adults. Each of these three words ...
Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome - Tabular View - ClinicalTrials.gov
Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis ... Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome. The safety and scientific validity of ... Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome. Official Title ICMJE Pilot Study of ... The Autoimmune Lymphoproliferative Syndrome is an inherited disease associated with a defect of lymphocyte apoptosis, ...
Autoimmune Lymphoproliferative Syndrome (ALPS) Treatment | NIH: National Institute of Allergy and Infectious Diseases
The disorder can be managed by treating low blood-cell counts (cytopenias) and other autoimmune diseases that occur in people ... Autoimmune Lymphoproliferative Syndrome (ALPS) Treatment. Autoimmune Lymphoproliferative Syndrome (ALPS). *Autoimmune ... Diseases & Conditions > Autoimmune Lymphoproliferative Syndrome (ALPS). share with facebook share with twitter share with ... The disorder can be managed by treating low blood-cell counts (cytopenias) and other autoimmune diseases that occur in people ...
Autoimmune Lymphoproliferative Syndrome Workup: Approach Considerations, Laboratory Studies, Computed Tomography and Positron...
... and autoimmune cytopenias. In 1995, defective lymphocyte apoptosis secondary to mutations in the FAS gene was identified as a ... Autoimmune lymphoproliferative syndrome (ALPS) is characterized by nonmalignant lymphadenopathy, splenomegaly, ... encoded search term (Autoimmune Lymphoproliferative Syndrome) and Autoimmune Lymphoproliferative Syndrome What to Read Next on ... A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease. Clin ...
Autoimmune lymphoproliferative syndrome
D89.82 - Autoimmune lymphoproliferative syndrome [ALPS]. SNOMEDCT:. 702444009 - Autoimmune lymphoproliferative syndrome. Best ... Autoimmune lymphoproliferative syndrome. Subscriber Sign In VisualDx Mobile Feedback Select Language Share ... Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease caused by a mutation of genes responsible for monitoring ... a child first presents with lymphoproliferative symptoms of lymphadenopathy and splenomegaly and years later with autoimmune ...
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome |...
Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS). Blood 2006;108(6):1965 ... A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 1992;90(2):334-341. ... Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin ... A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood 2011;118(18):4798-4807. ...
Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.
Autoimmune Lymphoproliferative Syndrome (ALPS) - The Clinical Advisor
How can autoimmune lymphoproliferative syndrome be prevented?. ALPS is not an acquired disease, but is present at birth, either ... Autoimmune lymphoproliferative syndrome symptoms:. The most common symptoms are: Lymphadenopathy, splenomegaly (with or without ... If you are able to confirm that the patient has autoimmune lymphoproliferative syndrome, what treatment should be initiated? ... "Autoimmune lymphoproliferative syndrome (ALPS)". Curr Pharm Des. vol. 9. 2003. pp. 265. ...
Autoimmune Lymphoproliferative Syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Autoimmune Lymphoproliferative Syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient ... Types of Autoimmune Lymphoproliferative Syndrome *Causes of Autoimmune Lymphoproliferative Syndrome *Symptoms of Autoimmune ... Contents for Autoimmune Lymphoproliferative Syndrome: *Autoimmune Lymphoproliferative Syndrome *What is Autoimmune ... more about Autoimmune Lymphoproliferative Syndrome.. Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition ...
Frontiers | Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like...
Unlike most of the self-limiting autoimmune cytopenias sporadically seen in childhood, multi lineage cytopenias due to ALPS are ... Unlike most of the self limiting autoimmune cytopenias sporadically seen in childhood, multi lineage cytopenias due to ALPS are ... Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of apoptosis. It is frequently caused by mutations in FAS ( ... Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare disorder frequently due to mutations in FAS (TNFRSF6) gene. ...
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune...
We report here two kindreds with autoimmune lymphoproliferative syndrome (ALPS) type II, characterized by abnormal lymphocyte ... We report here two kindreds with autoimmune lymphoproliferative syndrome (ALPS) type II, characterized by abnormal lymphocyte ... Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type ...
Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A | Disease page | IUPHAR/BPS Guide to PHARMACOLOGY
Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A disease page. Quantitative data and detailed annnotation of the ... Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A. GtoPdb Disease Summaries. This section gives an overview of the ... No ligand related data available for Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A ...
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease | Haematologica
Autoimmune lymphoproliferative syndrome-like syndrome presented as lupus-like syndrome with mycobacterial joint infection ... The autoimmune lymphoproliferative syndrome (ALPS, Canale-Smith syndrome) of early childhood1,2 is caused by disturbance of ... Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults. Haematologica. 2013;98(3):389-392. ... Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med. 2004;351(14):1409-1418. ...
Dianzani autoimmune lymphoproliferative syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS...
... answered by our Genetic and Rare Diseases Information Specialists for Dianzani autoimmune lymphoproliferative syndrome ... Dianzani autoimmune lymphoproliferative syndrome Title Other Names:. Dianzani form of autoimmune lymphoproliferative disease; ... Registries for Dianzani autoimmune lymphoproliferative syndrome:. European Society for Immunodeficiencies (ESID) Registry. ... such as being diagnosed with Dianzani autoimmune lymphoproliferative syndrome. The type of data collected can vary from ...
2018 ICD-10-CM Diagnosis Code D89.82: Autoimmune lymphoproliferative syndrome [ALPS]
Autoimmune lymphoproliferative syndrome. Clinical Information *An autoimmune hematologic disorder characterized by autoimmune ... Autoimmune lymphoproliferative syndrome [ALPS]. 2016 2017 2018 Billable/Specific Code *D89.82 is a billable/specific ICD-10-CM ... D89.82 Autoimmune lymphoproliferative syndrome [ALPS] D89.89 Other specified disorders involving the immune mechanism, not ... Autoimmune* lymphoproliferative syndrome [ALPS] D89.82. * Syndrome - see also Disease* autoimmune lymphoproliferative [ALPS] ...
Institut Gustave Roussy - Arsenic trioxide: a promising novel therapeutic agent for lymphoproliferative and autoimmune...
... as in autoimmune lymphoproliferative syndrome (ALPS), massive lymphoproliferation due to inactivation of Fas-mediated apoptosis ... Furthermore, As(2)O(3) protected young animals against developing the syndrome and induced almost total disease disappearance ... in older affected mice, thereby demonstrating that it is a novel promising therapeutic agent for autoimmune diseases. ... MRL/lpr mice develop a human lupuslike syndrome and, ... agent for lymphoproliferative and autoimmune syndromes in MRL/ ...
Autoimmune lymphoproliferative syndrome, type IV
... Common Name(s). Autoimmune lymphoproliferative syndrome, type IV ... WAGR Syndrome; Wolf-Hirschhorn Syndrome; 4p16.3 Microduplication Syndrome; 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome; ... Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash Syndrome ... "Autoimmune lymphoproliferative syndrome, type IV" (open studies are recruiting volunteers) and 1 "Autoimmune ...
Autoimmune Lymphoproliferative Syndrome | Profiles RNS
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant*Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal ... "Autoimmune Lymphoproliferative Syndrome" by people in this website by year, and whether "Autoimmune Lymphoproliferative ... Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves clothing? Pancreas. 2013 Mar ... Autoimmune Lymphoproliferative Syndrome [C15.604.515.138]. *Congenital, Hereditary, and Neonatal Diseases and Abnormalities [ ...
Mutations in the Fas gene found in Spanish ALPS (autoimmune lymphoproliferative syndrome) patients | Journal of Translational...
The autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte apoptosis. ALPS is characterized by ... Mutations in the Fas gene found in Spanish ALPS (autoimmune lymphoproliferative syndrome) patients. *L Martínez-Martínez, ... autoimmune lymphoproliferative syndrome) patients. J Transl Med 8, P20 (2010). https://doi.org/10.1186/1479-5876-8-S1-P20 ... childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated (,1,5%) double negative T (DNT; CD3+TCR ...
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS | MENDELIAN.CO
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS description, symptoms and related genes. Get the complete information in our ... AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS Autoimmune Lymphoproliferative Syndrome; Alps. Description. Autoimmune ... Autoimmune Lymphoproliferative Syndrome; Alps Is also known as canale-smith syndrome, autoimmune lymphoproliferative syndrome, ... For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009).. Genetic Heterogeneity of Autoimmune ...
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. | Institut Imagine
Frontiers | Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency | Molecular Biosciences
2005). Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. Blood 115, ... 2004). Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N. Engl. J. Med. 351, 1409-1418. doi: 10.1056/ ... 1999). Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am. J. Hum. Genet. 64, 1002- ...
Autoimmune lymphoproliferative syndrome; ALPS | Disease page | IUPHAR/BPS Guide to PHARMACOLOGY
Autoimmune lymphoproliferative syndrome; ALPS disease page. Quantitative data and detailed annnotation of the targets of ... Autoimmune lymphoproliferative syndrome; ALPS. GtoPdb Disease Summaries. This section gives an overview of the disease, and ... It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias. Genes ...
PIK3CD gene - Genetics Home Reference - NIH
Autoimmune lymphoproliferative syndrome. Genetics Home Reference provides information about autoimmune lymphoproliferative ... The PIK3CD gene mutations involved in activated PI3K-delta syndrome change single protein building blocks (amino acids) in the ... Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol. 2014 ... People with activated PI3K-delta syndrome typically have recurrent bacterial infections of the respiratory tract and chronic ...
ALPSDisordersHemolyticCytopeniasDiseasesDiseaseMutationsLymphoproliferationNeutropeniaLymphomaAutoimmunityApoptosisCytopeniaDeficiencyMutationSymptomsHepatitisPatientsClinicalWiskott-AldrichDefectsDysregulationDefectUveitisAutosomal DominantGeneticsAcuteDeletionImmunodeficiencyDianzaniDiagnosisLiverTypeManifestationsPolyendocrinopathy
ALPS49
- Autoimmune lymphoproliferative syndrome ( ALPS ), also known as Canale-Smith syndrome , [1] is a form of lymphoproliferative disorder (LPDs). (wikipedia.org)
- Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers. (wikipedia.org)
- Another sign is autoimmune cytopenias and polyclonal hypergammaglobulinemia and a family history of ALPS or non-malignant lymphoproliferation. (wikipedia.org)
- Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). (medlineplus.gov)
- Autoimmune disorders are also common in ALPS. (medlineplus.gov)
- Less commonly, autoimmune disorders that affect other organs and tissues occur in people with ALPS. (medlineplus.gov)
- Autoimmune lymphoproliferative syndrome (ALPS), is a form of lymphoproliferative disorder (LPDs). (wikipedia.org)
- 5% virtually pathognomonic for ALPS Mild elevations also found in other autoimmune diseases Thought to be cytotoxic T lymphocytes that have lost CD8 expression Unknown if driver of disease or epiphenomenon May be falsely elevated in setting of lymphopenia or falsely decreased with immunosuppressive treatment Biomarkers Polyclonal hypergammaglobulinemia Elevated serum FASL Elevated plasma IL-10 and/or IL-18 Elevated plasma or serum vitamin B12 Autoantibodies: Non-specific. (wikipedia.org)
- No longer considered a subtype of ALPS but distinct disesase Treatment is most commonly directed at autoimmune disease and may be needed to treat bulky lymphoproliferation. (wikipedia.org)
- How is autoimmune lymphoproliferative syndrome (ALPS) classified? (medscape.com)
- ALPS-like disorders or ALPS-related syndromes are diseases which have similar features of those with ALPS but are missing required diagnostic features such as elevated DNT cells or have additional manifestations such as immunodeficiency features (Table 1). (medscape.com)
- The multilineage cytopenias often noticed in ALPS result from splenic sequestration, as well as from underlying autoimmune processes. (medscape.com)
- Other autoimmune diseases occur in 10-20% of ALPS and can affect any organ system. (medscape.com)
- Examples of an autoimmune lymphoproliferative syndrome (ALPS) in a patient with grade IV (visible) lymphadenopathy. (medscape.com)
- A patient with autoimmune lymphoproliferative syndrome (ALPS) who developed pneumococcal sepsis, a serious complication secondary to neutropenia and asplenia. (medscape.com)
- The aim of the research is to understand mechanisms involved in the development of expanded numbers of what is typically a rare population of immune cells (CD4-8-/TCRalpha/beta+ T cells, otherwise referred to as double negative T cells), and how these relate to the development of expanded numbers of immune cells and autoimmune (self against self) responses in patients with ALPS. (clinicaltrials.gov)
- The word autoimmune (self-immune) identifies ALPS as a disease of the immune system. (clinicaltrials.gov)
- The word lymphoproliferative describes the unusually large numbers of white blood cells (called lymphocytes (stored in the lymph nodes and spleens of people with ALPS. (clinicaltrials.gov)
- The word syndrome refers to the many common symptoms shared by ALPS patients. (clinicaltrials.gov)
- The purpose of this family based natural history protocol is to allow for patients, and relatives of patients to be screened for Autoimmune Lymphoproliferative Syndrome (ALPS) and related disorders of apoptosis, RAS associated leukoproliferative disorder (RALD). (clinicaltrials.gov)
- This study will evaluate the safety and effectiveness of an antibiotic called Fansidar on autoimmune lymphoproliferative syndrome (ALPS). (clinicaltrials.gov)
- The disorder can be managed by treating low blood-cell counts (cytopenias) and other autoimmune diseases that occur in people with ALPS. (nih.gov)
- In most cases, rare autoimmune complications of ALPS, such as hepatitis, glomerulonephritis, and uveitis, can be treated effectively with immune-suppressing medications. (nih.gov)
- Lymph node biopsy findings are unique in autoimmune lymphoproliferative syndrome (ALPS), and hematologists, surgeons, and pathologists involved in performing and interpreting biopsy results should be familiar with these findings and include the diagnosis of ALPS if these findings are present on biopsy. (medscape.com)
- Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation. (uniprot.org)
- Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by chronic lymphoproliferation, autoimmune manifestations and expansion of TCRalphabeta+CD4-CD8-lymphocytes. (uniprot.org)
- The main manifestations of ALPS are lymphoproliferative disease (lymphadenopathy, splenomegaly, hepatomegaly), autoimmune disease, mainly confined to blood cells, and the development of lymphoma (manifestation of lymphoproliferative disease). (clinicaladvisor.com)
- Unlike most of the self-limiting autoimmune cytopenias sporadically seen in childhood, multi lineage cytopenias due to ALPS are often refractory, as their inherited genetic defect is not going to go away. (frontiersin.org)
- Autoimmune lymphoproliferative syndrome (ALPS) 1 is a disorder of the immune system due to defective Fas-mediated apoptosis ( 1 ). (frontiersin.org)
- It is hoped that paradigms learnt during the last two decades from diagnosing and managing ALPS as highlighted here can be applicable to other novel inherited immune disorders presenting with nodal and extranodal lymphoproliferation, infection, end organ damage as well as T- and B-cell dysfunction leading to many autoimmune complications including cytopenias ( 10 , 12 - 16 ). (frontiersin.org)
- We report here two kindreds with autoimmune lymphoproliferative syndrome (ALPS) type II, characterized by abnormal lymphocyte and dendritic cell homeostasis and immune regulatory defects, that harbor independent missense mutations in Caspase 10. (nih.gov)
- MRL/lpr mice develop a human lupuslike syndrome and, as in autoimmune lymphoproliferative syndrome (ALPS), massive lymphoproliferation due to inactivation of Fas-mediated apoptosis. (cnrs.fr)
- Genetic Heterogeneity of Autoimmune Lymphoproliferative SyndromeType IIA ALPS ( ALPS2A ) is caused by mutation in the caspase-10 gene ( CASP10 ). (mendelian.co)
- Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection. (mendelian.co)
- BACKGROUND: Impaired Fas-induced apoptosis of lymphocytes in vitro is a principal feature of the autoimmune lymphoproliferative syndrome (ALPS). (institutimagine.org)
- At least 115 mutations in the FAS gene have been identified in people with a disorder of the immune system called autoimmune lymphoproliferative syndrome (ALPS). (nih.gov)
- Autoimmune disorders, in which the immune system malfunctions and attacks the body's own tissues and organs, are also common in ALPS. (nih.gov)
- Poppema S, Maggio E, van den Berg A. Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations. (nih.gov)
- Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function and is characterized by lymphadenopathy/splenomegaly and expansion of CD4/CD8 double-negative T cells. (cdc.gov)
- This latter expansion is absent in the ALPS variant named Dianzani Autoimmune/lymphoproliferative Disease (DALD). (cdc.gov)
- Some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, nerves, or connective tissues . (cdc.gov)
- One of the well-characterized autoimmune disorders caused by a gene mutation is autoimmune lymphoproliferative syndrome (ALPS). (aappublications.org)
- 6 - 8 RALD features autoimmune cytopenia and lymphoproliferation secondary to a T-cell apoptosis defect, similar to ALPS. (aappublications.org)
- Autoimmune lymphoproliferative syndrome (ALPS) with FAS mutation (ALPS-FAS) is a nonmalignant, noninfectious, lymphoproliferative disease with autoimmunity . (bvsalud.org)
- A hallmark of autoimmune lymphoproliferative syndrome (ALPS), caused by mutation of the Fas death receptor, is massive lymphadenopathy from aberrant expansion of CD4 − CD8 − (double-negative [DN]) T cells. (jimmunol.org)
- Autoimmune manifestations, including severe cytopenias, and heightened risk of lymphoma are also features of autoimmune lymphoproliferative syndrome (ALPS) ( 1 , 2 ). (jimmunol.org)
- Germline mutations of the CD95 gene leading to autoimmune lymphoproliferative syndrome (ALPS) and predisposing to B cell lymphoma and other malignancies have been observed in humans as well ( 5 )( 14 ). (rupress.org)
- The most common underlying genetic diagnosis is autoimmune lymphoproliferative syndrome (ALPS) . (uniklinik-freiburg.de)
- We also analyzed OPG levels in the peripheral blood of patients with autoimmune lymphoproliferative syndrome (ALPS). (biomedcentral.com)
Disorders21
- Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. (medlineplus.gov)
- Autoimmune disorders typically develop several years later, most frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. (medlineplus.gov)
- As a result, excess lymphocytes accumulate in the body's tissues and organs and often begin attacking them, leading to autoimmune disorders. (medlineplus.gov)
- In that context, many well-classified primary immunodeficiency disorders can present with lymphoproliferation, including lymphoma, and autoimmune cytopenias. (clinicaladvisor.com)
- and/or lymphoproliferative disorders, typically of B-cell origin. (clinicaladvisor.com)
- They can also have a variety of autoimmune disorders , most of which damage the blood cells. (cdc.gov)
- Only a limited genetic association has been identified in cases of autoimmune disorders. (aappublications.org)
- Patients with several congenital syndromes, such as Noonan syndrome and Kabuki syndrome, are also known to be susceptible to developing autoimmune disorders. (aappublications.org)
- We herein present a case of a novel KRAS mutation associated with various autoimmune disorders, including immune thrombocytopenia (ITP), recurrent Henoch-Schönlein purpura (HSP), and intestinal Behçet disease (BD), without meeting the diagnostic criteria for RALD or JMML, although this mutation has been previously described. (aappublications.org)
- Immunodeficiency-associated lymphoproliferative disorders: time for reappraisal? (bloodjournal.org)
- Immunodeficiency-associated lymphoproliferative disorders (IA-LPDs) are pathologically and clinically heterogeneous. (bloodjournal.org)
- However, the World Health Organization (WHO) classifies IA-LPDs by their immunodeficiency setting largely according to the paradigm of posttransplant lymphoproliferative disorders but with inconsistent terminology and disease definitions. (bloodjournal.org)
- B-cell lymphoproliferative disorders (LPDs) are usually Epstein-Barr virus (EBV) + and show a spectrum of lesions, including hyperplasias, polymorphic LPDs, aggressive lymphomas, and, rarely, indolent lymphomas. (bloodjournal.org)
- Immunodeficiency-associated lymphoproliferative disorders (IA-LPDs) are a heterogeneous group of lesions with variable clinicopathologic features. (bloodjournal.org)
- The World Health Organization (WHO) classification recognizes 4 types of IA-LPDs: posttransplant lymphoproliferative disorders (PTLDs), lymphomas associated with HIV infection, lymphoproliferations associated with primary immune disorders, and other iatrogenic IA-LPDs. (bloodjournal.org)
- It can be subdivided into a primary, genetic form and a secondary form that complicates diverse infections, autoimmune or autoinflammatory disorders, and malignancies. (springer.com)
- Multi-site studies conducted by Dr. Olivier and his collaborators seek to address potential genetic risk loci that might explain overlapping characteristics of health conditions such as cystic fibrosis, primary ciliary dyskinesia, connective tissue disorders including Marfan or Ehlers-Danlos syndromes, and immune-related disorders. (nih.gov)
- Certain other immune disorders are frequently associated with autoimmune complications. (primaryimmune.org)
- These include Common Variable Immune Deficiency (CVID) , Wiskott-Aldrich Syndrome (WAS) , IgA deficiency , Good Syndrome, Hyper IgM Syndrome , Idiopathic T-cell Lymphopenia (ICL) and Complement disorders . (primaryimmune.org)
- Dr. Burt claims to use HSCT to treat 23 different autoimmune disorders. (thisisms.com)
- Anti-liver cytosol autoantibody has been reported in children with autoimmune liver disorders mostly in association with anti-liver/kidney microsome reactivity. (humpath.com)
Hemolytic6
- [5] These include: Autoimmune hemolytic anemia , Autoimmune neutropenia , Autoimmune thrombocytopenia . (wikipedia.org)
- Autoimmune hemolytic anemia and autoimmune thrombocytopenia are more common than autoimmune neutropenia. (medscape.com)
- At least 40% of males who survive the early complications develop one or more autoimmune conditions such as hemolytic anemia, immune thrombocytopenic purpura (ITP), immune-mediated neutropenia, arthritis, vasculitis of small and large vessels, and immune-mediated kidney and liver disease. (clinicaladvisor.com)
- An autoimmune hematologic disorder characterized by autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatomegaly and splenomegaly. (icd10data.com)
- RAS-associated leukoproliferative disorder is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. (diseaseinfosearch.org)
- Autoantibodies against the RBCs can cause destruction of these cells and is called autoimmune hemolytic anemia (AIHA). (primaryimmune.org)
Cytopenias4
- Autoimmune cytopenias: Most common. (wikipedia.org)
- Autoimmunity is the second most common clinical presentation, especially autoimmune cytopenias in one or more cell lineages. (medscape.com)
- Autoimmune lymphoproliferative syndrome is a disorder of lymphoid system regulation characterized by chronic splenomegaly , lymphadenopathy and autoimmune phenomena especially immune-mediated cytopenias. (bvsalud.org)
- Autoimmune lymphoproliferative syndrome should be considered in differential diagnosis of any patient with unexplained Coomb's positive cytopenias, hypergammaglobulinemia , generalized lymphadenopathy and splenomegaly . (bvsalud.org)
Diseases10
- Furthermore, As(2)O(3) protected young animals against developing the syndrome and induced almost total disease disappearance in older affected mice, thereby demonstrating that it is a novel promising therapeutic agent for autoimmune diseases. (cnrs.fr)
- Diseases associated with FASLG include Autoimmune Lymphoproliferative Syndrome and Lung Cancer . (genecards.org)
- Sometimes people with primary immunodeficiency diseases cannot make "good" antibodies to protect against infection but only make "bad" autoantibodies, which then cause autoimmune disease. (primaryimmune.org)
- In other autoimmune diseases, the cellular immune system may also react against a body's auto-antigens. (primaryimmune.org)
- Autoimmune complications have been reported in a wide range of primary immunodeficiency diseases. (primaryimmune.org)
- However, certain primary immunodeficiency diseases have autoimmune disease as their primary problem. (primaryimmune.org)
- The development of autoantibodies that bind to and destroy blood cells is the most common autoimmune disease seen in primary immunodeficiency diseases. (primaryimmune.org)
- Since HSCT has the ability to reset the immune system back to a state of self tolerance it seems it also has potential for other autoimmune diseases. (thisisms.com)
- HSCT has been shown to be effective for a wide variey of hematologically-rooted autoimmune diseases, sharing a similar pathology with MS. Dr. Burt in Chicago often uses the same HSCT procedure for other (hematologically-rooted) diseases such as Lupus, CIDP, JIA and several others. (thisisms.com)
- PFAPA (periodic fever with aphthous stomatitis, pharyngitis and adenitis) is considered one of the periodic fever syndromes (PFS), which are autoinflammatory diseases characterized by inappropriate, uncontrolled and often spontaneous inflammation in the absence of autoimmunity or infection. (oncologynurseadvisor.com)
Disease21
- Autoimmune disease is the second most common clinical manifestation and one that most often requires treatment. (wikipedia.org)
- Autoimmune lymphoproliferative syndrome is a rare disease that affects both children and adults. (clinicaltrials.gov)
- The Autoimmune Lymphoproliferative Syndrome is an inherited disease associated with a defect of lymphocyte apoptosis, lymphoproliferation and autoimmunity. (clinicaltrials.gov)
- Note: there often is a delay between lymphoproliferative disease manifestations and the occurrence of autoimmunity, varying from months to many years. (clinicaladvisor.com)
- Individuals with CVID with B cells (but absent or decreased memory B cells) are at an increased risk for autoimmune disease that often targets blood cells and for chronic lymphoproliferation including lymphadenopathy, splenomegaly, and lymphoma. (clinicaladvisor.com)
- Lymphomas or other lymphoproliferative disease occur in approximately one-third of males with XLP, some of whom have hypogammaglobulinemia or have survived an initial EBV infection. (clinicaladvisor.com)
- Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. (uchicago.edu)
- Our case was completely phenotypically different from RASopathies and did not meet the criteria for Ras-associated lymphoproliferative disease or juvenile myelomonocytic leukemia. (aappublications.org)
- 5 Mutations at codons 12 and 13 of the KRAS and NRAS genes have been described in cases of Ras-associated lymphoproliferative disease (RALD). (aappublications.org)
- The Cd72 c haplotype is a modifier of Fas lpr -induced autoimmune disease. (jax.org)
- Our report of three novel patients widens the scope of RASGRP1 deficiency by providing new clinical and immunological insights on autoimmunity, immune cell development, and predisposition to lymphoproliferative disease. (springer.com)
- We report three patients presenting with similar clinical characteristics of immunodeficiency and EBV-associated lymphoproliferative disease. (springer.com)
- Hepatopulmonary syndrome (HPS) is the development of pulmonary dysfunction characterized by defective arterial oxygenation in the context of liver disease. (hindawi.com)
- Sometimes these antibodies themselves are harmless but suggest the presence of an autoimmune disease. (primaryimmune.org)
- Lymphoproliferative disease also is known as Castleman disease. (livestrong.com)
- It is a rare disease that is undergoing study by the National Human Genome Research Institute, which calls it autoimmune lymphoproliferative syndrome. (livestrong.com)
- Autoimmune lymphoproliferative syndrome may produce some symptoms that are similar to those in both versions of Castleman disease. (livestrong.com)
- Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome. (childrenshospital.org)
- Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome, Haematologica. (uniklinik-freiburg.de)
- PFAPA is an autoinflammatory, not autoimmune, disease and does not have a known trigger. (oncologynurseadvisor.com)
- Definition: Celiac disease is a common autoimmune condition triggered by ingesting one of several related proteins found in wheat, barley, and rye: the gliadins, hordeins, and secalins. (humpath.com)
Mutations9
- Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. (medscape.com)
- Autoimmune lymphoproliferative syndrome is frequently caused by mutations in genes involved in the Fas death receptor pathway, but for 20-30% of patients the genetic defect is unknown. (haematologica.org)
- At least four mutations in the PIK3CD gene have been found to cause a form of immunodeficiency called activated PI3K-delta syndrome. (nih.gov)
- Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. (nih.gov)
- 2 , 3 Noonan syndrome develops as a result of germline mutations of the PTPN11, SOS1, RAF1, KRAS, and NRAS genes, which are involved in the RAS-mitogen-activated protein kinase signaling pathway. (aappublications.org)
- IPEX syndrome is caused by mutations in what? (sporcle.com)
- Legius syndrome, initially reported as neurofibromatosis type 1‐like syndrome, is an autosomal dominant disorder caused by heterozygous inactivating SPRED1 mutations. (els.net)
- 2005) Germline mutations in HRAS proto‐oncogene cause Costello syndrome. (els.net)
- 2010) A restricted spectrum of NRAS mutations causes Noonan syndrome. (els.net)
Lymphoproliferation2
- Diagnostic evaluation of patients with lymphoproliferation and autoimmunity (autoimmune lymphoproliferative primary immunodefeciency AL-PID) can be challenging. (uniklinik-freiburg.de)
- Sequential decisions on FAS sequencing guided by biomarkersin patients with lymphoproliferation and autoimmune cytopenia, Haematologica. (uniklinik-freiburg.de)
Neutropenia2
- white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). (medlineplus.gov)
- Autoimmune neutropenia with antineutrophil antibody is less common. (medscape.com)
Lymphoma2
- Activated PI3K-delta syndrome also increases the risk of developing a form of cancer called B-cell lymphoma. (nih.gov)
- Autoimmune lymphoproliferative syndrome and non-Hodgkin lymphoma: what 18F-fluorodeoxyglucose positron emission tomography/computed tomography can do in the management of these patients? (unil.ch)
Autoimmunity2
- An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells. (rightdiagnosis.com)
- Criteria to include a patient into this program are: positive family history, early-onset autoimmunity, immune dysregulation in addition to autoimmune cytopenia, distinct additional immunological abnormalities. (uniklinik-freiburg.de)
Apoptosis4
- Consistently, interleukin-12 could not induce apoptosis in Fas ligand-deficient T cells from patients with autoimmune lymphoproliferative syndrome. (haematologica.org)
- Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. (mendelian.co)
- A genetic disorder of lymphocyte apoptosis involving the fas pathway: the autoimmune lymphoproliferative syndrome. (nih.gov)
- The autoimmune lymphoproliferative syndrome: an experiment of nature involving lymphocyte apoptosis. (nih.gov)
Cytopenia1
- First line therapies include corticosteroids (very active but toxic with chronic use), and IVIgG, which are not as effective as in other immune cytopenia syndromes. (wikipedia.org)
Deficiency3
- Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). (springer.com)
- RASGRP1 deficiency is associated with life-threatening immune dysregulation, severe autoimmune manifestations, and susceptibility to EBV-induced B cell malignancies. (springer.com)
- ITK deficiency presenting as autoimmune lymphoproliferative syndrome. (childrenshospital.org)
Mutation2
- Based on the findings of our case and the current literature, it is clear that the RAS mutation in lymphoid cells is tightly linked with various autoimmune symptoms. (aappublications.org)
- 2009) Mutation of SHOC2 promotes aberrant protein N‐myristoylation and causes Noonan‐like syndrome with loose anagen hair. (els.net)
Symptoms3
- More detailed information about the symptoms , causes , and treatments of Autoimmune Lymphoproliferative Syndrome is available below. (rightdiagnosis.com)
- It is interesting to note that muscle weakness and mental symptoms are thought to be less common than in adults with Cushing syndrome. (neurologyadvisor.com)
- ABSTRACTBackgroundClinical variables that predict long ‐term mortality and recurrence of Takotsubo syndrome (TTS) are not completely understoodas the role of acquired QTc interval prolongation.Methods and resultsQTc intervals were analysed in 105 patients presenting with symptoms of TTS. (medworm.com)
Hepatitis1
- Definition: Autoimmune hepatitis (AIH) type 2 is identified by the presence in the serum of anti-liver/kidney microsome type 1 autoantibody. (humpath.com)
Patients7
- The purpose of the protocol is to allow for patients, and relatives of patients, who may have the newly described autoimmune lymphoproliferative syndrome, to be evaluated at the NIH Clinical Center. (clinicaltrials.gov)
- To test this, we analyzed 20 patients with autoimmune lymphoproliferative syndrome of unknown cause by whole-exome sequencing. (haematologica.org)
- A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Dianzani autoimmune lymphoproliferative syndrome. (nih.gov)
- Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. (cdc.gov)
- Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation. (bvsalud.org)
- Cushing syndrome should be strongly suspected in patients with weight gain associated with growth failure and rounded facies. (neurologyadvisor.com)
- Newly diagnosed patients are at high risk for tumor lysis syndrome. (oncologynurseadvisor.com)
Clinical4
- This evaluation will include blood and relevant tissue studies along with long-term clinical evaluations to define the biology, inheritance,clinical spectrum, and natural history of this syndrome. (clinicaltrials.gov)
- Finding the right clinical trial for Autoimmune lymphoproliferative syndrome, type IV can be challenging. (diseaseinfosearch.org)
- Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency, Clin Immunol. (uniklinik-freiburg.de)
- Reversion of autoimmune lymphoproliferative syndrome with an antimalarial drug: preliminary results of a clinical cohort study and molecular observations. (ugent.be)
Wiskott-Aldrich1
- Derry JM, Ochs HD and Francke U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. (els.net)
Defects2
- Rieux-Laucat F. Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative Syndrome. (nih.gov)
- SCID is a syndrome caused by defects in at least 18 genes. (healio.com)
Dysregulation1
- Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. (childrenshospital.org)
Defect1
- Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (springer.com)
Uveitis1
- uveitis), or nerves (Guillain-Barre syndrome). (medlineplus.gov)
Autosomal Dominant1
- Legius syndrome is an autosomal dominant disorder. (els.net)
Genetics1
- Genetics Home Reference provides information about autoimmune lymphoproliferative syndrome. (nih.gov)
Acute1
- TPMT and MTHFR genotype is not associated with altered risk of thioguanine-related sinusoidal obstruction syndrome in pediatric acute lymphoblastic leukemia : A report from the Children's Oncology Group. (ohsu.edu)
Deletion1
- Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel. (mendelian.co)
Immunodeficiency1
- Obviously, using immunosuppressive treatment in a patient already afflicted with immunodeficiency involves a complex balancing act to avoid unwanted infections and other serious side effects while still using sufficient immunosuppressive treatment to control the autoimmune process. (primaryimmune.org)
Dianzani1
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dianzani autoimmune lymphoproliferative syndrome. (nih.gov)
Diagnosis2
- In this regard, it is important to remember that Cushing syndrome carries a high morbidity and mortality, due at least in part to the delay in establishing its diagnosis. (neurologyadvisor.com)
- Auxologic data are extremely important in the diagnosis of pediatric Cushing syndrome. (neurologyadvisor.com)
Liver1
- Hepatopulmonary syndrome is a pulmonary dysfunction in the context of liver cirrhosis characterized by arterial deoxygenation. (hindawi.com)
Type3
- Following organizations serve the condition "Autoimmune lymphoproliferative syndrome, type IV" for support, advocacy or research. (diseaseinfosearch.org)
- The terms "Autoimmune lymphoproliferative syndrome, type IV" returned 0 free, full-text research articles on human participants. (diseaseinfosearch.org)
- Autoimmune lymphoproliferative syndrome type II (sequence analysis of CASP10 gene). (mendelian.co)
Manifestations1
- In addition, P2 and P3 exhibited overt autoimmune manifestations. (springer.com)
Polyendocrinopathy1
- Polyendocrinopathy, Enteropathy, and X-linked (IPEX) syndrome. (primaryimmune.org)