| Term Name: | immunodeficiency 15A |
|---|---|
| Synonyms: | IMD15A |
| Definition: | A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. |
| Ontology: | Human Disease [DOID:0111960] ( DOID:0111960 ) |