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Summary Literature (0)
DOID:0111938 - immunodeficiency 24

Disease Ontology 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.

Synonyms: IMD24, SCID due to CTPS1 deficiency, severe combined immunodeficiency due to CTPS1 deficiency,

Xenbase Genes : ctps1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), severe combined immunodeficiency (is_a)