immunodeficiency, common variable, 10
Findings
No curated finding names immunodeficiency, common variable, 10 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 NFKB2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014260), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
23 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.
- Abnormal response to ACTH stimulation testHPOHP:0031074
- 2 of 2 reported patients
- AsthmaHPOHP:0002099
- 4 of 4 reported patients
- Central adrenal insufficiencyHPOHP:0011734
- 4 of 4 reported patients
- Combined immunodeficiencyHPOHP:0005387
- 4 of 4 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 4 of 4 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 4 of 4 reported patients
- Decreased circulating IgM concentration
Show the remaining 11
- Alopecia totalisHPOHP:0007418
- 2 of 4 reported patients
- Anti-thyroid peroxidase antibody positivityHPOHP:0025379
- 2 of 4 reported patients
- Chiari type I malformationHPOHP:0007099
- 2 of 4 reported patients
- Frequent Giardia lamblia infestationHPOHP:0005215
- 2 of 4 reported patients
- TrachyonychiaHPOHP:0030804
- 2 of 4 reported patients
- Anti-thyroglobulin antibody positivityHPOHP:0032069
- 1 of 4 reported patients
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.
- NFKB2HGNC:7795
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
3 names
Resolves to: immunodeficiency, common variable, 10
- Also called
- common variable immunodeficiency caused by mutation in NFKB2immunodeficiency, common variable, type 10NFKB2 common variable immunodeficiency