| Metadata | |
|---|---|
| ID | DOID:0111938 |
| Name | immunodeficiency 24 |
| Definition | A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. https://pubmed.ncbi.nlm.nih.gov/24870241/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
IMD24 [EXACT] SCID due to CTPS1 deficiency [EXACT] severe combined immunodeficiency due to CTPS1 deficiency [EXACT] |
| Parent Relationships |