immunodeficiency 35 (DOID:0111989)
Alliance: disease page
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
Alt IDs: OMIM:611521, MESH:C566928, ORDO:331226
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.