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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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory