Search Ontology:
Human Disease

immunodeficiency 35

Term ID
DOID:0111989
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
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. https://pubmed.ncbi.nlm.nih.gov/26304966/
References
Ontology
Human Disease   ( DOID:0111989 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models