Features include always present findings: Decreased proportion of memory B cells, Reduced antigen-specific T cell proliferation, Decreased mucosal-associated invariant T cell proportion, and Decreased specific pneumococcal antibody level and others; and very common findings: Decreased circulating IgG concentration. 17 total HPO annotations.

CTPS1 encodes CTP synthase 1 (591 aa). CTP synthase involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Highest expression in Artery Aorta (60.7 TPM) and Uterus (56.1 TPM).

Combined immunodeficiency due to CTPS1 deficiency is caused by mutations in the CTPS1 gene on chromosome 1.

CTPS1 is classified as a druggable target (Enzyme category) with score 2.7.

Genetic testing for CTPS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined immunodeficiency due to CTPS1 deficiency has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 1 very common feature, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for combined immunodeficiency due to CTPS1 deficiency.

199 publications have been identified in PubMed for combined immunodeficiency due to CTPS1 deficiency. Kisho has analyzed 134 by research type. Research spans Review / Meta-Analysis (35%), Epidemiology / Natural History (16%), and Case Report / Case Series (13%).