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Updated: Jul 26, 2025

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结合性免疫缺陷是由ZAP70C终端SH2域中的致病变体引起的

Cédric Mongellaz1, Rita Vicente1, Lenora M Noroski2

  • 1Institut de Génétique Moléculaire de Montpellier, University of Montpellier, Centre National de la Recherche Scientifique (CNRS), Montpellier, France.

Frontiers in immunology
|June 14, 2023
PubMed
概括

在ZAP-70基因的突变导致联合免疫缺陷. 这项研究发现,ZAP-70的SH2-C域中的突变会损害T细胞受体信号传递,导致严重的免疫缺陷和CD8淋巴缺血症.

关键词:
这就是SH2突变的原因.这就是Syk Syk.在TCR的zeta链上.这就是ZAP-70的特点.这是自身免疫力.免疫的先天性错误 (IEI)酸盐结合口袋,可以绑定酸盐.一次性免疫缺陷 (PID)

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