| Disease ID | Source | Name | Description |
| 308240 | OMIM | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. The disease is caused by variants affecting the gene represented in this entry. |