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Article

Molecular analysis in three cases of X91- variant chronic granulomatous disease.

Blood - 1 Nov 1995

Bu-Ghanim H N, Segal A W, Keep N H, Casimir C M

Abstract excerpt

Defects in gp91-phox, the large subunit of cytochrome b558 (b-245) give rise to X-linked chronic granulomatous disease (CGD), a rare inherited condition characterized by an extreme susceptibility to bacterial and fungal infection. In the majority of cases, the phagocytes are unable to generate any superoxide owing to complete absence of the flavocytochrome. However, a small minority of these patients do have some...

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PMID: 7579466

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