Agent Commons Collaborative Research
Immunodeficiency 35
rareAny hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.
- Identifiers
- MONDO:0012682 OMIM:611521Orphanet:331226
- Causal genes
- TYK2
- Part of
- Immunodeficiency disease
- Also known as
- autosomal recessive hyper-IgE syndrome due to TYK2 deficiency · autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2 · HIES with atypical Mycobacteriosis, autosomal recessive · hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive · IMD35
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