Term Name: | immunodeficiency 24 |
---|---|
Synonyms: | IMD24, SCID due to CTPS1 deficiency, severe combined immunodeficiency due to CTPS1 deficiency |
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. |
Ontology: | Human Disease [DOID:0111938] ( DOID:0111938 ) |