Disease ID | Source | Name | Description |
618969 | OMIM | Immunodeficiency 70 (IMD70) | A primary immunodeficiency clinically characterized by human papillomavirus-associated warts on the hands, feet and face, recurrent bacterial infections, and autoinflammatory features, such as colitis, celiac disease, and retinal vasculitis. Immunologic workup shows decreased CD4+ T cells, decreased CD19+ B cells, and hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with incomplete penetrance. The disease may be caused by variants affecting the gene represented in this entry. |