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.
MONDO:0044201
T+ B+ severe combined immunodeficiency
excluded_subClassOf
MONDO:0015131
combined immunodeficiency
is_a
CTPS1-related combined immunodeficiency
exact
IMD24
related
SCID due to CTPS1 deficiency
exact
immunodeficiency 24
related
immunodeficiency type 24
exact
SPAC10F6.03c