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 )

Relationships
is a type of: autosomal recessive disease severe combined immunodeficiency