immunodeficiency, common variable, 4
MONDO:0013284Mondo
Findings
No curated finding names immunodeficiency, common variable, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Combined immunodeficiencyHPOHP:0005387
- 2 of 2 reported patients
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410300
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 2 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 2 of 2 reported patients
- Recurrent sinusitisHPOHP:0011108
- 1 of 2 reported patients
- Abnormal total T cell numberHPOHP:0011839
- 0 of 2 reported patients
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.
- TNFRSF13CHGNC:17755
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency, common variable, 4
- Also called
- immunodeficiency, common variable, type 4