immunodeficiency, common variable, 3
MONDO:0013283Mondo
Findings
No curated finding names immunodeficiency, common variable, 3 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
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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 decreased circulating total IgG concentrationHPOHP:0032134
- 4 of 4 reported patients
- Combined immunodeficiencyHPOHP:0005387
- 4 of 4 reported patients
- Decreased circulating isohemagglutinin concentrationHPOHP:0032139
- 4 of 4 reported patients
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 4 of 4 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 4 of 4 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 4 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 3 of 4 reported patients
- ConjunctivitisHPOHP:0000509
- 1 of 4 reported patients
- Abnormal total B cell countHPOHP:0010975
- 0 of 4 reported patients
- Abnormal total T cell numberHPOHP:0011839
- 0 of 4 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- Recurrent respiratory infectionsHPOHP:0002205
Show the remaining 1
- Recurrent sinusitisHPOHP:0011108
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.
- CD19HGNC:1633
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency, common variable, 3
- Also called
- immunodeficiency, common variable, type 3