| Metadata | |
|---|---|
| ID | DOID:0111972 |
| Name | immunodeficiency 19 |
| Definition | A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. https://pubmed.ncbi.nlm.nih.gov/14602880/, https://pubmed.ncbi.nlm.nih.gov/21883749/ |
| Xrefs | |
| Synonyms |
CD3-delta deficiency [EXACT] IMD19 [EXACT] SCID T cell-negative, B cell-positive, NK cell-positive [EXACT] severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive [EXACT] |
| Parent Relationships |