| Disease ID | Source | Name | Description |
| 618935 | OMIM | Granulomatous disease, chronic, autosomal recessive, 5 (CGD5) | 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. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients. The disease is caused by variants affecting the gene represented in this entry. |