Human genes for immunodeficiency 35
Immunodeficiency 35 [DOID:0111989]
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.
Synonyms: immunodeficiency 35, DOID:0111989, IMD35, TYK2 deficiency, autosomal recessiv HIES with atypical mycobacteriosis ...