TNFAIP3
小结
TNFAIP3编码蛋白是TNFα诱导蛋白3，其由肿瘤坏死因子（TNF）α诱导并调节NF-κB通路。TNFAIP3具有抑制NF-κB通路的泛素连接酶和去泛素化活性。TNFAIP3的活性在调节B细胞存活或凋亡、炎症反应和T细胞功能方面起到重要作用。TNFAIP3中的多态性与许多自身免疫性疾病相关，如系统性红斑狼疮、Sjögren综合征、多发性硬化和类风湿性关节炎。TNFAIP3胚系缺失功能突变与自身免疫性疾病有关。TNFAIP3突变与淋巴瘤转化为更恶性的疾病有关，在B细胞淋巴瘤、T细胞大颗粒淋巴细胞白血病（LGL）和外周T细胞淋巴瘤中发现其突变。
TNFAIP3 encodes TNF alpha induced protein 3 that is induced by Tumor necrosis factor (TNF) alpha and regulates the NF-κB pathway. TNFAIP3 has ubiquitin ligase and de-ubiquitination activities that suppress the NF-κB pathway. Its activity is important in regulating B-cell survival and apoptosis, inflammatory response, and dendritic cell function in regulating T-cells. Polymorphisms in TNFAIP3 are associated with many autoimmune diseases such as systemic lupus erythematosus, Sjögren's syndrome, multiple sclerosis, and rheumatoid arthritis. Germline loss of function mutations are associated with autoimmune disease. Mutations are found in B-cell lymphomas, T-cell large granular lymphocytic (LGL) leukemia, and peripheral T-cell lymphomas. TNFAIP3 mutation has been associated with transformation of lymphomas to more aggressive disease and varying prognosis depending on subtype.