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Article

[A case of female CYBB gene variant carrier with early severe infections due to skewed X-chromosome inactivation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Mar 2026

Wang L L, Zhu X N, Qi Z X, Yang J, Luo Y

Abstract excerpt

患儿，女，3月龄，因“发热2 d”就诊深圳市儿童医院风湿免疫科，影像学提示咽部及腹部多发脓肿，伴中耳炎，中性粒细胞呼吸爆发功能试验二氢罗丹明阳性细胞比例0.16，基因检测证实为CYBB基因杂合变异，存在X染色体非随机失活。经联合抗感染及抗炎治疗后脓肿好转。患儿随访13个月，约每个月患支气管炎1次，暂无重症感染，暂未开始预防性抗感染治疗。.

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Source

Identifiers

PMID: 41674426
DOI: 10.3760/cma.j.cn112140-20250728-00687

Genes

CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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