susceptibility to infection due to TYK2 deficiencyTYK2 deficiencyIMD35tyrosine kinase 2 deficiencyautosomal recessive hyper-IgE syndrome with atypical mycobacteriosisautosomal recessiv HIES with atypical mycobacteriosis
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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 TYK2 on chromosome 19p13.2.