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disease: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

id5212
nameChronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
descriptionChronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory response resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis); granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. CGD may present anytime from infancy to late adulthood; however, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
variant-disease NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
NM_000433.3(NCF2):c.[479A>T;481A>G] AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
NM_000433.3(NCF2):c.130G>C (p.Gly44Arg) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
NM_000433.3(NCF2):c.305G>C (p.Arg102Pro) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
NM_000433.3(NCF2):c.409T>A (p.Trp137Arg) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
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