immunodeficiency 25
Findings
No curated finding names immunodeficiency 25 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.
Definition from the Mondo Disease Ontology (MONDO:0012426), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
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.
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 1 of 1 reported patient
- Decreased circulating IgG2 concentrationHPOHP:0008348
- 2 of 2 reported patients
- Decreased total T cell countHPOHP:0005403
- 1 of 1 reported patient
- ErythrodermaHPOHP:0001019
- 1 of 1 reported patient · Infantile onset
- Increased circulating IgA concentrationHPOHP:0003261
- 1 of 1 reported patient
- Increased circulating IgE concentrationHPOHP:0003212
- 1 of 1 reported patient
Show the remaining 5
- Recurrent pneumoniaHPOHP:0006532
- 1 of 1 reported patient
- Anti-smooth muscle antibody positivityHPOHP:0003262
- 1 of 2 reported patients
- Antimitochondrial antibody positivityHPOHP:0030167
- 1 of 2 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 2 reported patients
- ImmunodeficiencyHPOHP:0002721
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.
- CD247HGNC:1677
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: immunodeficiency 25
- Also called
- CD247 severe combined immunodeficiency (disease)CD3zeta deficiencyimmunodeficiency type 25severe combined immunodeficiency (disease) caused by mutation in CD247