immunodeficiency 70
MONDO:0033542Mondo
Findings
No curated finding names immunodeficiency 70 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
17 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 IgA concentrationHPOHP:0003460
- 1 of 3 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 3 reported patients
- Decreased circulating total IgG concentrationHPOHP:0032132
- 1 of 3 reported patients
- Decreased total B cell countHPOHP:0010976
- 1 of 4 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 1 of 4 reported patients
- AchalasiaHPOHP:0002571
- Celiac diseaseHPOHP:0002608
- Chronic fatigueHPOHP:0012432
- ColitisHPOHP:0002583
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- FuruncleHPOHP:0020083
- ImmunodeficiencyHPOHP:0002721
Show the remaining 5
- Palmar wartsHPOHP:0033004
- Plantar wartsHPOHP:0033005
- Recurrent sinusitisHPOHP:0011108
- Retinal vasculitisHPOHP:0025188
- VerrucaeHPOHP:0200043
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.
- IVNS1ABPHGNC:16951
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of