Term Name: | immunodeficiency 35 |
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Synonyms: | autosomal recessiv HIES with atypical mycobacteriosis, autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis, IMD35, susceptibility to infection due to TYK2 deficiency, 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. |
Ontology: | Human Disease [DOID:0111989] ( DOID:0111989 ) |