活化诱导胞嘧啶核苷脱氨酶抗体

活化诱导胞嘧啶核苷脱氨酶抗体 Background: RNA-editing deaminase involved in somatic hypermutation, gene conversion, and class-switch recombination. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. Tissue specificity:Strongly expressed in lymph nodes and tonsils. Involvement in disease:Defects in AICDA are the cause of hyper-IgM immunodeficiency syndrome type 2 (HIGM2); also known as hyper-IgM syndrome 2. HIGM2 is an autosomal recessive disorder characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. HIGM2 causes the absence of Ig class switch recombination (CSR), the lack of Ig somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. Also known as: Activation induced cytidine deaminase; Activation induced deaminase; Activation-induced cytidine deaminase; AICDA; AICDA_HUMAN; AID; ARP 2; ARP2; CDA 2; CDA2; Cytidine aminohydrolase; HIGM2; Integrated into Burkitt's lymphoma cell line Ramos.活化诱导胞嘧啶核苷脱氨酶抗体