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Metadata
ID DOID:0111938
Name immunodeficiency 24
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 CTPS1 on chromosome 1p34.2.
https://pubmed.ncbi.nlm.nih.gov/24870241/
Xrefs

OMIM:615897

ORDO:420573

UMLS_CUI:C4014617

Synonyms

IMD24 [EXACT]

SCID due to CTPS1 deficiency [EXACT]

severe combined immunodeficiency due to CTPS1 deficiency [EXACT]

Parent Relationships

is_a severe combined immunodeficiency

is_a autosomal recessive disease

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