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immunodeficiency 35
Summary
- Synonym
-
- IMD35
- TYK2 deficiency
- autosomal recessiv HIES with atypical mycobacteriosis
- autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis
- susceptibility to infection due to TYK2 deficiency
- tyrosine kinase 2 deficiency
- Definition
- A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.
- Super Class
- autosomal recessive disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111989
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
