combined immunodeficiency due to CTPS1 deficiency
Findings
No curated finding names combined immunodeficiency due to CTPS1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014391), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased antigen-specific T cell proliferationHPOHP:0031402
- 3 of 3 reported patients
- Decreased circulating IgG2 concentrationHPOHP:0008348
- 3 of 3 reported patients
- Decreased circulating specific pneumococcal antibody concentrationHPOHP:0012476
- 4 of 4 reported patients
- Decreased memory B cell proportionHPOHP:0030374
- 5 of 5 reported patients
- Decreased mucosal-associated invariant T cell proportionHPOHP:4000039
- 5 of 5 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 8 of 8 reported patients
Show the remaining 5
- Lymphoproliferative disorderHPOHP:0005523
- 1 of 5 reported patients
- Persistent viremiaHPOHP:0032248
- 1 of 5 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- ImmunodeficiencyHPOHP:0002721
- Severe viral infectionHPOHP:0031691
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTPS1HGNC:2519
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: combined immunodeficiency due to CTPS1 deficiency
- Also called
- CTPS1-related combined immunodeficiencyimmunodeficiency type 24SCID due to CTPS1 deficiency