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immunodeficiency 24
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0111938
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
