[1例儿童PIK3CD基因突变所致活化PI3Kδ综合征并发生殖细胞瘤]。

Zhonghua er ke za zhi = Chinese journal of pediatrics Pub Date : 2023-06-02 DOI:10.3760/cma.j.cn112140-20221012-00864

P Y Yang, M Jin, Y C Zhou, C Duan, H W Mao, R Zhang, H M Wang, Y Su

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[Activated PI3Kδ syndrome caused by PIK3CD gene mutation complicated with germ cell tumor in a child].

患儿女，7岁，因“间断腹痛20 d”就诊于北京儿童医院。经影像学检查、肿瘤标志物、病理检查诊断为卵巢无性细胞瘤。既往因反复感染、淋巴结肿大，经免疫功能测定和基因检测诊断为PI3Kδ过度活化综合征（APDS）。予西罗莫司、丙种球蛋白治疗APDS的同时，经过手术及化疗，肿瘤完全缓解，患儿感染频率较前下降。.

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Zhonghua er ke za zhi = Chinese journal of pediatrics

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