Haploinsufficiency of TNFAIP3 ( A20 ) by germline mutation is involved in autoimmune lymphoproliferative syndrome
نویسندگان
چکیده
منابع مشابه
Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).
*Peripheral neutrophils were supported pretransplant by recombinant granulocyte colony stimulating factor. Post-transplant parameters were obtained at 18 months (FBC and T-cell indices, lung function) or 21 months post-HSCT (B cell and antibody indices). Post-HSCT antibody indices were measured during concomitant subcutaneous immunoglobulin supplementation. No other autoantibodies were detected...
متن کاملA dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein
Introduction TNFAIP3 encodes the anti-inflammatory A20 protein that functions as a potent negative regulator of NF B signaling and the NLRP3 inflammasome. Low penetrance common variants of TNFAIP3 have been associated with a number of autoimmune diseases. Here we report 5 high penetrance dominantly-inherited frameshift and nonsense TNFAIP3 mutations in 11 patients with early-onset systemic infl...
متن کاملFAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
The autoimmune lymphoproliferative syndrome (ALPS) is characterized by early-onset lymphadenopathy, splenomegaly, immune cytopenias, and an increased risk for B cell lymphomas. Most ALPS patients harbor mutations in the FAS gene, which regulates lymphocyte apoptosis. These are commonly missense mutations affecting the intracellular region of the protein and have a dominant-negative effect on th...
متن کاملGenetic relationships between A20/TNFAIP3, chronic inflammation and autoimmune disease.
A20 [also known as TNFAIP3 (tumour necrosis factor α-induced protein 3)] restricts and terminates inflammatory responses through modulation of the ubiquitination status of central components in NF-κB (nuclear factor κB), IRF3 (interferon regulatory factor 3) and apoptosis signalling cascades. The phenotype of mice with full or conditional A20 deletion illustrates that A20 expression is essentia...
متن کاملAutoimmune lymphoproliferative syndrome.
PURPOSE OF REVIEW The autoimmune lymphoproliferative syndrome is a recently identified human disorder of lymphocyte apoptosis that has provided important information about Fas-mediated lymphocyte apoptosis. In this review we summarize current information regarding the diagnosis, management and underlying molecular basis of the syndrome. RECENT FINDINGS The genetic basis of autoimmune lymphopr...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2017
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2016.09.038