Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D alpha and beta chains.
Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D alpha and beta chains.
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DOI：
10.1084/jem.183.3.1063
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发表时间：
1996-03-01
期刊：
影响因子：
--
通讯作者：
Glimcher LH
中科院分区：
文献类型：
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作者：
Douhan J 3rd;Hauber I;Eibl MM;Glimcher LH
主要组织相容性复合体(MHC)II类联合免疫缺陷(CID)又称II型裸淋巴细胞综合征，是一种以MHC II类抗原完全缺乏表达为特征的常染色体隐性遗传病。这种缺陷是由于所有II类基因的转录协调不足造成的。使用许多患者和实验来源的II类阴性细胞系的细胞融合研究已经确定了四个不同的遗传互补组。在这份报告中，我们提出了遗传证据，来自两个新描述的MHC II类缺陷患者的细胞系，Ker和Ken，代表第五个互补组。此外，Ker和Ken细胞系表现出其MHC-II类基因的独特的不协调调节模式，这反映在体内基因组足迹揭示的新的启动子占据的表型上。这些数据指出了一种新的缺陷，可能导致MHC II类缺陷的表型。
Major histocompatibility complex (MHC) class II combined immunodeficiency (CID), also known as type II bare lymphocyte syndrome, is an autosomal recessive genetic disorder characterized by the complete lack of expression of MHC class II antigens. The defect results from a coordinated lack of transcription of all class II genes. Cell fusion studies using many patient- and experimentally derived class II-negative cell lines have identified four distinct genetic complementation groups. In this report, we present genetic evidence that cell lines derived from two newly described MHC class II-deficient patients, KER and KEN, represent a fifth complementation group. In addition, the KER and KEN cell lines display a unique pattern of dyscoordinate regulation of their MHC class II genes, which is reflected in a new phenotype of in vivo promoter occupancy as revealed by in vivo genomic footprinting. These data point to a new defect that can result in the MHC class II-deficient phenotype.