半身IL2RG 变体 缺陷 IL-2-诱导的 STAT5 酸化和转录活动 导致X相关的严重联合免疫缺陷

Ning Zhang1, Yi-Lin Sang1, Wu Zhu1

  • 1Department of Immunology, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410013, People's Republic of China.

PubMed
概括

功能分析澄清了四个与X相关的严重联合免疫缺陷 (X-SCID) 相关的家族中的IL2RG变异的致病性. 这有助于改善这种免疫疾病的诊断,治疗和基因检测.

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