| Disease ID | Source | Name | Description |
| 615206 | OMIM | Immunodeficiency 11 A (IMD11A) | An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function. The disease is caused by variants affecting the gene represented in this entry. |
| 616452 | OMIM | B-cell expansion with NFKB and T-cell anergy (BENTA) | An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. The disease is caused by variants affecting the gene represented in this entry. |
| 617638 | OMIM | Immunodeficiency 11B with atopic dermatitis (IMD11B) | An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia. The disease is caused by variants affecting the gene represented in this entry. |