Combined immunodeficiency due to CTPS1 deficiency

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.

Also known as: CTPS1-related combined immunodeficiency, SCID due to CTPS1 deficiency, immunodeficiency type 24, IMD24, immunodeficiency 24

1 clinical trial for this condition and its sub-types, 0 tagged with Combined immunodeficiency due to CTPS1 deficiency itself.