Article
X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability.
The Journal of allergy and clinical immunology - 1 Jan 2018
Marciano Beatriz E, Zerbe Christa S, Falcone E Liana, Ding Li, DeRavin Suk See, Daub Janine, Kreuzburg Samantha, Yockey Lynne, Hunsberger Sally, Foruraghi Ladan, Barnhart Lisa A, Matharu Kabir, Anderson Victoria, Darnell Dirk N, Frein Cathleen, Fink Danielle L, Lau Karen P, Long Priel Debra A, Gallin John I, Malech Harry L, Uzel Gulbu, Freeman Alexandra F, Kuhns Douglas B, Rosenzweig Sergio D, Holland Steven M
Abstract excerpt
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65% to 70% of cases in Western countries. OBJECTIVE: We sought to understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective...
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