| Disease ID | Source | Name | Description |
| 614700 | OMIM | Immunodeficiency, common variable, 8, with autoimmunity (CVID8) | An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The disease is caused by variants affecting the gene represented in this entry. |