Condition: Chronic granulomatous disease


rs104894515 in CYBA gene and Chronic granulomatous disease PMID 20167518 2010 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

rs151344497 in CYBB gene and Chronic granulomatous disease PMID 21278736 2011 Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

rs387906808 in NCF4-AS1;NCF4 gene and Chronic granulomatous disease PMID 19692703 2009 A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.