immunodeficiency, common variable, 12
Findings
No curated finding names immunodeficiency, common variable, 12 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 NFKB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014697), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Juvenile onset · Childhood onset
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.
- Combined immunodeficiencyHPOHP:0005387
- 14 of 20 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 8 of 20 reported patients
- Chronic pulmonary obstructionHPOHP:0006510
- 4 of 20 reported patients
- AlopeciaHPOHP:0001596
- 3 of 20 reported patients
- Recurrent sinusitisHPOHP:0011108
- 3 of 20 reported patients
- ThrombocytopeniaHPOHP:0001873
- 3 of 20 reported patients
- Autoimmune hemolytic anemiaHPO
Show the remaining 2
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Recurrent infectionsHPOHP:0002719
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.
- NFKB1HGNC:7794
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: immunodeficiency, common variable, 12
- Also called
- common variable immunodeficiency caused by mutation in NFKB1immunodeficiency, common variable, type 12NFKB1 common variable immunodeficiency