Disease association ontology term - MONDO:0014391 - combined immunodeficiency due to CTPS1 deficiency
Term summary
- ID
- MONDO:0014391
- Name
- combined immunodeficiency due to CTPS1 deficiency
- Ontology or CV name
- Disease association
- Definition
- Rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
