Term Name: immunodeficiency 35
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 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease