immunodeficiency 60
MONDO:0032723Mondo
Findings
No curated finding names immunodeficiency 60 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
18 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 diarrheaHPOHP:0002028
- 3 of 3 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 3 reported patients
- Decreased memory B cell proportionHPOHP:0030374
- 3 of 3 reported patients
- Decreased total basophil countHPOHP:0031808
- 3 of 3 reported patients
- Recurrent sinopulmonary infectionsHPOHP:0005425
- 3 of 3 reported patients
- BronchiectasisHPOHP:0002110
- 2 of 3 reported patients
- Decreased circulating IgE concentrationHPOHP:0005479
- 2 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 3 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 3 reported patients
- Crohn's diseaseHPOHP:0100280
- 1 of 3 reported patients · Young adult onset
- Perinuclear antineutrophil antibody positivityHPOHP:0032229
- 1 of 3 reported patients
- Ulcerative colitisHPOHP:0100279
- 1 of 3 reported patients · Juvenile onset
Show the remaining 6
- ColitisHPOHP:0002583
- Infantile onset
- FeverHPOHP:0001945
- PancytopeniaHPOHP:0001876
- Pulmonary fibrosisHPOHP:0002206
- Pulmonary infiltratesHPOHP:0002113
- SplenomegalyHPOHP:0001744
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.
- BACH2HGNC:14078
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · ClinGen · Autosomal dominant · 2023
- Limited · Illumina · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 60
- Also called
- immunodeficiency 60 and autoimmunity