OBO ID: DOID:0111989
Term Name: immunodeficiency 35 Search Ontology:
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 TYK2 on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/26304966/
References:
Ontology: Human Disease   (DOID:0111989)
OTHER immunodeficiency 35 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TYK2 Immunodeficiency 35 611521
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None