immunodeficiency 28
MONDO:0013953Mondo
Findings
No curated finding names immunodeficiency 28 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 IFNGR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013953), read 2026-09-29. CC BY 4.0.
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.
- IFNGR2HGNC:5440
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: immunodeficiency 28
- Also called
- IFNGR2 primary immunodeficiency diseaseimmunodeficiency type 28primary immunodeficiency disease caused by mutation in IFNGR2