OMIM

Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD; 306400). (613960)

MalaCards based summary

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii, is also known as chronic granulomatous disease autosomal recessive cytochrome b-positive type iii, and has symptoms including diarrhea, recurrent aphthous stomatitis and recurrent sinusitis. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii is NCF4 (Neutrophil Cytosolic Factor 4). Affiliated tissues include neutrophil.

UniProtKB/Swiss-Prot

Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.