Article
Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 May 2016
Chiriaco Maria, Salfa Irene, Di Matteo Gigliola, Rossi Paolo, Finocchi Andrea
Abstract excerpt
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defects in the genes encoding any of the NADPH oxidase components responsible for the respiratory burst of phagocytic leukocytes. CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by...
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