COMPLEMENTATION CLONING OF AN MHC CLASS-II TRANSACTIVATOR MUTATED IN HEREDITARY MHC CLASS-II DEFICIENCY (OR BARE LYMPHOCYTE SYNDROME)
COMPLEMENTATION CLONING OF AN MHC CLASS-II TRANSACTIVATOR MUTATED IN HEREDITARY MHC CLASS-II DEFICIENCY (OR BARE LYMPHOCYTE SYNDROME)
复制标题
DOI：
10.1016/s0092-8674(05)80090-x
复制
发表时间：
1993-10-08
期刊：
影响因子：
64.5
通讯作者：
MACH, B
中科院分区：
文献类型：
--
作者：
STEIMLE, V;OTTEN, LA;MACH, B
遗传性主要组织相容性复合体（MHC）II类缺陷（或裸淋巴细胞综合征）是一种严重的原发性免疫缺陷，完全缺乏MHC II类表达。这是由于MHC II类基因调节缺陷造成的。一个新的基因分离互补克隆，使用MHC II类阴性突变细胞系。该基因（CIITA）作为MHC II类基因表达的反式激活因子发挥作用，并恢复突变细胞中所有MHC II类同种型的表达。此外，CIITA完全纠正了裸淋巴细胞综合征患者细胞的MHC II类调节缺陷。在这种疾病中，我们已经确定了一个剪接突变，导致CIITA中的24个氨基酸缺失，导致反式激活因子功能丧失。因此，CIITA基因是MHC II类基因表达所必需的，并已被证明是负责遗传性MHC II类缺陷。
Hereditary major histocompatibility complex (MHC) class II deficiency (or bare lymphocyte syndrome) is a form of severe primary immunodeficiency with a total lack of MHC class II expression. It is due to a defect in the regulation of MHC class II genes. A novel gene was isolated by complementation cloning, using an MHC class II-negative mutant cell line. This gene (CIITA) functions as a transactivator of MHC class II gene expression and restores expression of all MHC class II isotypes in mutant cells. In addition, CIITA fully corrects the MHC class II regulatory defect of cells from patients with bare lymphocyte syndrome. In this disease we have identified a splicing mutation that results in a 24 amino acid deletion in CIITA, resulting in loss of function of the transactivator. Hence, the CIITA gene is essential for MHC class II gene expression and has been shown to be responsible for hereditary MHC class II deficiency.