| Metadata | |
|---|---|
| ID | DOID:0111979 |
| Name | immunodeficiency 49 |
| Definition | A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. https://pubmed.ncbi.nlm.nih.gov/27959755/, https://pubmed.ncbi.nlm.nih.gov/29985992/ |
| Xrefs | |
| Synonyms |
IMD49 [EXACT] SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities [EXACT] severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a T cell deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |