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Author

Brian Maugo

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Open access Oct 2026

Disseminated BCG disease and recurrent pulmonary infections in a child with trisomy 21 carrying a novel BACH2 variant of uncertain significance: a 5-year case report

Trisomy 21 is associated with combined immune dysregulation, including lymphopenia, impaired responses to vaccines, and heightened susceptibility to respiratory infections, driven in part by triplication of chromosome 21-encoded interferon receptor genes. BACH2 haploinsufficiency is a rare monogenic immunodefic...

D. Marangu-Boore, Brian Maugo, Rita Boateng · 0 citations

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