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Article

Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder.

Immunogenetics - 1 Apr 2017

Liu Qing, Wang Yan-Ping, Liu Qiao, Zhao Qin, Chen Xue-Mei, Xue Xiu-Hong, Zhou Li-Na, Ding Yuan, Tang Xue-Mei, Zhao Xiao-Dong, Zhang Zhi-Yong

Abstract excerpt

In humans, the complete lack of tyrosine kinase ZAP70 function results in combined immunodeficiency (CID), with abnormal thymic development and defective T cell receptor (TCR) signaling of peripheral T cells, characterized by the selective absence of CD8+ T cells. So far, 15 unique ZAP70 mutations have been identified in approximately 20 patients with CID, with variable clinical presentations. Herein, we report...

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Source

Identifiers

PMID: 28124082
DOI: 10.1007/s00251-017-0971-0

Genes

ZAP70

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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