Human genes for immunodeficiency 24
Immunodeficiency 24 [DOID:0111938]
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 CTPS1 on chromosome 1p34.2.
Synonyms: immunodeficiency 24, DOID:0111938, IMD24, SCID due to CTPS1 deficiency, severe combined immunodeficiency due to CTPS1 deficiency