immunodeficiency, common variable, 5
Findings
No curated finding names immunodeficiency, common variable, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013285), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 1 reported patient
- Chronic decreased circulating total IgG concentrationHPOHP:0032134
- 1 of 1 reported patient
- Combined immunodeficiencyHPOHP:0005387
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient · Childhood onset
- Abnormal total B cell countHPOHP:0010975
- 0 of 1 reported patient
- Abnormal total T cell numberHPOHP:0011839
- 0 of 1 reported patient
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.
- MS4A1HGNC:7315
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: immunodeficiency, common variable, 5
- Also called
- common variable immunodeficiency caused by mutation in MS4A1immunodeficiency, common variable, type 5MS4A1 common variable immunodeficiency