Disease ID | Source | Name | Description |
233710 | OMIM | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. The disease is caused by variants affecting the gene represented in this entry. |