Granulomatous Disease, Chronic, X-linked; Cdgx

Description

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

Clinical Features

• Hepatomegaly
• Splenomegaly
• Immunodeficiency
• Recurrent infections
• Thrombocytopenia
• Pneumonia
• Hepatosplenomegaly
• Carcinoma
• Muscular dystrophy
• Lymphadenopathy

And another 33 symptoms. If you need more information about this disease we can help you.