immunodeficiency 24 (DOID:0111938)
Alliance: disease page
Synonyms: IMD24; SCID due to CTPS1 deficiency; severe combined immunodeficiency due to CTPS1 deficiency
Alt IDs: OMIM:615897, ORDO:420573, UMLS_CUI:C4014617
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.