combined immunodeficiency due to CD3gamma deficiency
Findings
No curated finding names combined immunodeficiency due to CD3gamma deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.
Definition from the Mondo Disease Ontology (MONDO:0014276), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
12 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.
- Anoperineal fistulaHPOHP:0005218
- 2 of 2 reported patients
- Chronic decreased circulating IgG2 concentrationHPOHP:0041063
- 2 of 2 reported patients
- Chronic diarrheaHPOHP:0002028
- 2 of 2 reported patients
- Decreased total T cell countHPOHP:0005403
- 2 of 2 reported patients
- Recurrent oral thrushHPOHP:0009098
- 2 of 2 reported patients
- Recurrent otitis mediaHPO
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.
- CD3GHGNC:1675
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: combined immunodeficiency due to CD3gamma deficiency
- Also called
- CD3 deficiencyCD3-gamma deficiencyCD3gamma deficiencyIMD17immunodeficiency 17immunodeficiency type 17SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive