| Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder) |
| Severe combined immunodeficiency due to CTPS1 deficiency |
| Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
|
| 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. |
| ernstige gecombineerde immunodeficiëntie door CTPS1-deficiëntie |
| 'severe combined immunodeficiency' door CTPS1-deficiëntie
ernstige gecombineerde immuundeficiëntie door CTPS1-deficiëntie
SCID door CTPS1-deficiëntie
|
