Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
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DOI：
10.1016/s0092-8674(00)00079-9
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发表时间：
2000-09-01
期刊：
影响因子：
64.5
通讯作者：
Durandy, A
中科院分区：
文献类型：
--
作者：
Revy, P;Muto, T;Durandy, A
激活诱导胞苷脱氨酶（AID）基因是胞苷脱氨酶家族的一员，在小鼠生发中心B细胞中特异性表达。我们在此报告了常染色体隐性形式的高igm综合征（HIGM2）患者的人类AID对应体的突变。AID缺乏症的三个主要异常特征：(1)缺乏免疫球蛋白类开关重组，(2)缺乏免疫球蛋白体细胞超突变，(3)巨大生发中心的存在导致淋巴结增生。在HIGM2患者（和AID（-/-）小鼠）中观察到的表型表明，在有效抗体应答所必需的B细胞末端分化的几个关键步骤中，AID是绝对必要的。
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 recombination, (2) the lack of immunoglobulin somatic hypermutations, and (3) lymph node hyperplasia caused by the presence of giant germinal centers. The phenotype observed in HIGM2 patients (and in AID(-/-) mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses.