| Disease ID | Source | Name | Description |
| 613011 | OMIM | Lymphoproliferative syndrome 1 (LPFS1) | A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma. The disease is caused by variants affecting the gene represented in this entry. |