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Article

[Clinical features and molecular analysis of 2 Chinese children with autosomal recessive chronic granulomatous disease caused by CYBA mutations].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Nov 2011

He Jian-xin, Zhao Shun-ying, Xu Bao-ping, Hu Ying-hui, Shen Kun-ling, Jiang Zai-fang

Abstract excerpt

OBJECTIVE: To summarize clinical and molecular features of two children with autosomal recessive chronic granulomatous disease caused by CYBA mutations. METHOD: The clinical records and CYBA mutations were reviewed for analysis of infections and inflammatory complications. RESULT: The first case was a girl diagnosed with "liver and spleen abscess" in our hospital when she was 2.9 years old, with past history of...

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Source

Identifiers

PMID: 22336310

Genes

CYBA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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