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Article

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

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2023

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

Abstract excerpt

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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Source

Identifiers

PMID: 37312472
DOI: 10.3760/cma.j.cn112140-20221012-00864

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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