common variable immunodeficiency
MONDO:0015517Mondo
Findings
No curated finding names common variable immunodeficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
1 feature
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, hp/releases/2026-09-01.
- Decreased circulating immunoglobulin concentrationMondoHP:0004313
Genes
6 genes
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.
- ICOSHGNC:5351
- Definitive · ClinGen · Autosomal recessive · 2022
- BLKHGNC:1057
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- CTNNBL1HGNC:15879
- Limited · ClinGen · Autosomal recessive · 2022
- TNFSF12HGNC:11927
- Limited · ClinGen · Autosomal dominant · 2022
- TNFSF13HGNC:11928
- Limited · ClinGen · Autosomal recessive · 2022
- VAV1HGNC:12657
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (16)
- combined immunodeficiency due to LRBA deficiency
- IL21-related infantile inflammatory bowel disease
- immune deficiency, familial variable
- immunodeficiency, common variable, 1
- immunodeficiency, common variable, 10
- immunodeficiency, common variable, 12
- immunodeficiency, common variable, 14
- immunodeficiency, common variable, 15
- immunodeficiency, common variable, 2
- immunodeficiency, common variable, 3
- immunodeficiency, common variable, 4
- immunodeficiency, common variable, 5
- immunodeficiency, common variable, 6
- immunodeficiency, common variable, 7
- immunodeficiency, common variable, due to APRIL deficiency
- pancytopenia due to IKZF1 mutations
Other names
4 names
Resolves to: common variable immunodeficiency
- Also called
- Common Variable Immune Deficiencyprimary antibody deficiencyprimary hypogammaglobulinemiasecondary hypogammaglobulinemia