immunodeficiency 39
MONDO:0014597Mondo
Findings
No curated finding names immunodeficiency 39 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.
Definition from the Mondo Disease Ontology (MONDO:0014597), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
2 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.
- Severe influenza infectionHPOHP:0034249
- 1 of 1 reported patient
- ImmunodeficiencyHPOHP:0002721
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.
- IRF7HGNC:6122
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
4 names
Resolves to: immunodeficiency 39
- Also called
- immunodeficiency type 39IRF7 primary immunodeficiency diseasepredisposition to severe viral infection due to IRF7 deficiencyprimary immunodeficiency disease caused by mutation in IRF7