| Disease ID | Source | Name | Description |
| 209920 | OMIM | Bare lymphocyte syndrome 2 (BLS2) | A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. The disease is caused by variants affecting the gene represented in this entry. |