| Metadata | |
|---|---|
| ID | DOID:0111973 |
| Name | immunodeficiency 17 |
| Definition | A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. https://pubmed.ncbi.nlm.nih.gov/1635567/, https://pubmed.ncbi.nlm.nih.gov/17277165/, https://pubmed.ncbi.nlm.nih.gov/8325321/ |
| Xrefs | |
| Synonyms |
CD3-gamma deficiency [EXACT] IMD17 [EXACT] immunodeficiency 17, CD3 gamma deficient [EXACT] SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive [EXACT] |
| Parent Relationships |
is_a T cell deficiency |