Identification of a novel hypomorphic variant in CYBB underlying an adult presentation of X-linked recessive Mendelian susceptibility to mycobacterial disease.

Abstract excerpt

Deleterious mutations in the CYBB gene encoding NOX2 typically cause X-linked recessive chronic granulomatous disease (XR-CGD) by affecting NADPH oxidase-dependent respiratory burst in phagocytes. However, two missense variants (T178P, Q231P) were previously shown to cause isolated Mendelian susceptibility to mycobacterial disease (MSMD) in otherwise healthy males. We describe a novel, private variant in CYBB...

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