DISEASES

Disease-gene associations mined from literature

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