| Disease ID | Source | Name | Description |
| 617514 | OMIM | Immunodeficiency 52 (IMD52) | An autosomal recessive primary immunodeficiency characterized by T-cell abnormalities, resulting in severe combined immunodeficiency, autoimmune disease, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy. The disease is caused by variants affecting the gene represented in this entry. |