A twin with a novel pathogenic variant in CYBB induced X-linked chronic granulomatous disease: a rare case report of misdiagnosis as congenital cystic lung disease

Abstract Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by defects in phagocyte NADPH oxidase. X-linked CGD, resulting from CYBB gene mutations, accounts for approximately two-thirds of cases. Clinical manifestations typically include recurrent bact...

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Autori principali:	Lin Lin, Zongrong Gong, Genquan Yin, Gen Lu, Junzheng Peng
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2026-02-01
Serie:	BMC Pediatrics
Soggetti:	Chronic granulomatous disease Congenital cystic lung disease CYBB gene
Accesso online:	https://doi.org/10.1186/s12887-026-06627-7
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