| Metadata | |
|---|---|
| ID | DOID:0111960 |
| Name | immunodeficiency 15A |
| 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. https://pubmed.ncbi.nlm.nih.gov/30337470/ |
| Xrefs | |
| Synonyms |
IMD15A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |