immunodeficiency, common variable, 1
MONDO:0011864Mondo
Findings
No curated finding names immunodeficiency, common variable, 1 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
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Decreased circulating IgA concentrationHPOHP:0002720
- 5 of 5 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 5 of 5 reported patients
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 4 of 4 reported patients
- Decreased total B cell countHPOHP:0010976
- 4 of 4 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 4 of 4 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 5 reported patients
- Abnormal total T cell numberHPOHP:0011839
- 0 of 4 reported patients
- SplenomegalyHPOHP:0001744
- 0 of 4 reported patients
Genes
2 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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · G2P · Autosomal recessive · 2025
- INO80HGNC:26956
- Disputed Evidence · ClinGen · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency, common variable, 1
- Also called
- immunodeficiency, common variable, type 1