HOMOZYGOUS HUMAN TAP PEPTIDE TRANSPORTER MUTATION IN HLA CLASS-I DEFICIENCY
HOMOZYGOUS HUMAN TAP PEPTIDE TRANSPORTER MUTATION IN HLA CLASS-I DEFICIENCY
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DOI：
10.1126/science.7517574
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发表时间：
1994-07-08
期刊：
影响因子：
56.9
通讯作者：
TONGIO, MM
中科院分区：
文献类型：
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作者：
DELASALLE, H;HANAU, D;TONGIO, MM
人类淋巴细胞抗原(HLAI)类主要组织相容性复合体蛋白的表达在很大程度上依赖于由抗原处理相关转运蛋白(TAP)提供给它们的小肽。在患有反复呼吸道细菌感染的两个兄弟姐妹中，发现了人类TAP转运蛋白的遗传性缺陷。细胞表面I类蛋白表达很低，而CD1a表达正常，自然杀伤细胞的杀伤活性受到影响。此外，CD8(+)α-βT细胞数量很少，但数量显著，在受影响最严重的兄弟姐妹中具有细胞毒性，他们的CD4(+)CD8(+)T细胞和伽马-德尔塔T细胞也有所增加。
Human lymphocyte antigen (HLA) class I proteins of the major histocompatibility complex are largely dependent for expression on small peptides supplied to them by transporter associated with antigen processing (TAP) protein. An inherited human deficiency in the TAP transporter was identified in two siblings suffering from recurrent respiratory bacterial infections. The expression on the cell surface of class I proteins was very low, whereas that of CD1a was normal, and the cytotoxicity of natural killer cells was affected. In addition, CD8(+) alpha beta T cells were present in low but significant numbers and were cytotoxic in the most severely affected sibling, who also showed an increase in CD4(+)CD8(+) T cells and gamma delta T cells.