Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).
نویسندگان
چکیده
*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 pre-HSCT or post-HSCT. FBC, full blood count; FEV1, forced expiratory volume in 1 s; GAD, glutamic acid decarboxylase; HLA-DR, human leucocyte antigen–antigen D related; HSCT, haematopoietic stem cell transplantation; ND, not done; pANCA, perinuclear anti neutrophil cytoplasmic antibody. Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20)
منابع مشابه
A 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 کاملA20/Tumor Necrosis Factor α-Induced Protein 3 in Immune Cells Controls Development of Autoinflammation and Autoimmunity: Lessons from Mouse Models
Immune cell activation is a stringently regulated process, as exaggerated innate and adaptive immune responses can lead to autoinflammatory and autoimmune diseases. Perhaps the best-characterized molecular pathway promoting cell activation is the nuclear factor-κB (NF-κB) signaling pathway. Stimulation of this pathway leads to transcription of numerous pro-inflammatory and cell-survival genes. ...
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 کاملMutations in the genes coding for the NF-κB regulating factors IκBα and A20 are uncommon in nodular lymphocyte-predominant Hodgkin's lymphoma.
Nodular lymphocyte-predominant Hodgkin's lymphoma (NLPHL) shows constitutive NF-kappaB activity in the malignant lymphocyte-predominant (LP) cells. Constitutive NF-kappaB activity also plays a central pathogenetic role in classical Hodgkin's lymphoma (cHL), where inactivating mutations in the NFKBIA and TNFAIP3 genes, coding for the negative NF-kappaB regulators IkappaBalpha and A20, respective...
متن کاملEvaluation of Genome in Early Familial Coronary Artery Disease: A Case Report
Background and Objectives: Coronary artery diseases (CAD) are the most common cause of death in Iran and worldwide. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in first degree relatives could be considered as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD. Cas...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Annals of the rheumatic diseases
دوره شماره
صفحات -
تاریخ انتشار 2017