Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in patients with the autosomal recessive form of hyper-IgM syndrome (HIGM2). Three major abnormalities characterize AID deficiency: (1) the absence of immunoglobulin class switch ...
متن کاملActivation-induced cytidine deaminase (AID)
Activation-induced cytidine deaminase (AID) plays an essential role in the generation of a highly competent repertoire of antibodies by participating in class switch recombination (CSR) and somatic hypermutation (SHM). After B cell stimulation by antigens, AID initiates SHM and CSR by deamination of cytidine to uridine in the variable and constant regions of Ig genes. An adverse effect of AID’s...
متن کاملType two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase.
Thirteen Japanese patients with hyper-IgM syndrome but normal CD40 ligand were characterized. All patients had mutations in AID (activation-induced cytidine deaminase) gene. Five of them had a missense mutation of Arg112His. In all patients, serum IgG, IgA and IgE levels were undetectable, B cells failed to produce detectable amounts of IgE even if cultured them with anti-CD40 and IL-4. Somatic...
متن کاملActivation-Induced Cytidine Deaminase Deficiency Causes Organ-Specific Autoimmune Disease
Activation-induced cytidine deaminase (AID) expressed by germinal center B cells is a central regulator of somatic hypermutation (SHM) and class switch recombination (CSR). Humans with AID mutations develop not only the autosomal recessive form of hyper-IgM syndrome (HIGM2) associated with B cell hyperplasia, but also autoimmune disorders by unknown mechanisms. We report here that AID-/- mice s...
متن کاملActivation-induced cytidine deaminase expression and activity in the absence of germinal centers: insights into hyper-IgM syndrome.
Somatic hypermutation normally occurs as a consequence of the expression of activation-induced cytidine deaminase (AID) by Ag-activated, mature B cells during T cell-dependent germinal center responses. Nonetheless, despite their inability to express CD154 and initiate GC responses, patients with type 1 hyper-IgM syndrome (HIGM1) support populations of IgM(+)IgD(+)CD27(+) B cells that express m...
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ژورنال
عنوان ژورنال: Cell
سال: 2000
ISSN: 0092-8674
DOI: 10.1016/s0092-8674(00)00079-9