[A case of CD3γ deficiency with recurrent thrombocytopenia]

Y Zhou; H X Zhang; J N Yang; Z J Zhang; M S Ma; H M Song

doi:10.3760/cma.j.cn112140-20240828-00607

[A case of CD3γ deficiency with recurrent thrombocytopenia]

Zhonghua Er Ke Za Zhi. 2024 Nov 15;62(12):1208-1210. doi: 10.3760/cma.j.cn112140-20240828-00607. Online ahead of print.

[Article in Chinese]

Authors

Y Zhou¹, H X Zhang², J N Yang¹, Z J Zhang¹, M S Ma¹, H M Song¹

Affiliations

¹ Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing100730, China.
² Department of Nephrology and Rheumatology, Jinan Children's Hospital Children's Hospital Affiliated to Shandong University, Jinan250022, China.

PMID: 39563051
DOI: 10.3760/cma.j.cn112140-20240828-00607

Abstract

患儿，男，13岁，因“反复发热、咳嗽、间断皮肤淤点10年”入院。主要临床特点为反复呼吸道感染和间断血小板降低。既往史及个人生长发育史正常，父母非近亲婚配。基因检测示CD3G基因复合杂合变异，父源c.213delA，p.K71Nfs*40及母源c.360delT，p.F120Lfs*60，均评级为致病性变异。结合临床表现和基因检测结果诊断为CD3γ缺陷。给予激素治疗以及定期人免疫球蛋白输注支持治疗后病情控制良好。.