A rare primary immunodeficiency disorder due to impaired capacity of activated T and B-cells to proliferate in response to antigen receptor-mediated activation. The disease has characteristics of early-onset severe persistent and/or recurrent viral infections due to Epstein-Barr virus and Varicella Zoster virus as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
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Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
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Code Flag
3643070016
Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
Active
Synonym
false
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3643071017
Severe combined immunodeficiency due to CTPS1 deficiency