immunodeficiency, common variable, 7
MONDO:0013862Mondo
Findings
No curated finding names immunodeficiency, common variable, 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Chronic absent circulating IgG4HPOHP:0041059
- 1 of 1 reported patient
- Chronic decreased circulating IgG1 concentrationHPOHP:0041068
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Decreased circulating isohemagglutinin concentrationHPOHP:0032139
- 1 of 1 reported patient
- Decreased circulating specific pneumococcal antibody concentrationHPOHP:0012476
- 1 of 1 reported patient
- Decreased circulating total IgG concentrationHPOHP:0032132
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- MyalgiaHPOHP:0003326
- 1 of 1 reported patient
- PharyngalgiaHPOHP:0033050
- 1 of 1 reported patient
- Recurrent urinary tract infectionsHPOHP:0000010
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
Show the remaining 2
- Recurrent infectionsHPOHP:0002719
- Recurrent respiratory infectionsHPOHP:0002205
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.
- CR2HGNC:2336
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency, common variable, 7
- Also called
- immunodeficiency, common variable, type 7