HELIOS deficiency
MONDO:0800139Mondo
Findings
No curated finding names HELIOS deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.
Definition from the Mondo Disease Ontology (MONDO:0800139), 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.
- IKZF2HGNC:13177
- Moderate · ClinGen · Semidominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of