| Disease ID | Source | Name | Description |
| 618495 | OMIM | Immunodeficiency 63 with lymphoproliferation and autoimmunity (IMD63) | An autosomal recessive disorder characterized by immune dysregulation resulting in lymphoid proliferation, dermatitis, enteropathy, autoantibodies, hypergammaglobulinemia, and immunodeficiency with recurrent infections. Patients show increased susceptibility to viral infections, particularly cytomegalovirus disease. The disease is caused by variants affecting the gene represented in this entry. |