immunodeficiency, common variable, 14
MONDO:0054691Mondo
Findings
No curated finding names immunodeficiency, common variable, 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
10 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
- 3 of 3 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 3 of 3 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 3 of 3 reported patients
- Decreased specific antibody response to vaccinationHPOHP:0032140
- 1 of 1 reported patient
- Recurrent sinusitisHPOHP:0011108
- 3 of 3 reported patients
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 2 of 3 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 3 reported patients
- Psoriasiform dermatitisHPOHP:0003765
- 1 of 3 reported patients
- Defective B cell differentiationHPOHP:0005357
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.
- IRF2BP2HGNC:21729
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · ClinGen · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of