immunodeficiency 35
Findings
No curated finding names immunodeficiency 35 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012682), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Increased circulating IgE concentrationHPOHP:0003212
- Recurrent fungal infectionsHPOHP:0002841
- Recurrent mycobacterial infectionsHPOHP:0011274
- Recurrent viral infectionsHPOHP:0004429
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.
- TYK2HGNC:12440
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: immunodeficiency 35
- Also called
- autosomal recessive hyper-IgE syndrome due to TYK2 deficiencyautosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2HIES with atypical Mycobacteriosis, autosomal recessivehyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessiveIMD35immunodeficiency type 35susceptibility to infection due to TYK2 deficiencyTYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiencyTYK2 deficiencytyrosine kinase 2 deficiency