Disease ID | Source | Name | Description |
615518 | OMIM | Immunodeficiency 13 (IMD13) | A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy. The disease is caused by variants affecting the gene represented in this entry. |