immunodeficiency 35

Summary

DOID:0111989 - immunodeficiency 35

Disease Ontology 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.

Synonyms: autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessiv HIES with atypical mycobacteriosis, IMD35, susceptibility to infection due to TYK2 deficiency, TYK2 deficiency, tyrosine kinase 2 deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tyk2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), primary immunodeficiency disease (is_a)