ZFIN Human Disease: immunodeficiency 35

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 the TYK2 gene on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/26304966/
References:	MESH:C566928 OMIM:611521 ORDO:331226
Ontology:	Human Disease ( DOID:0111989 )

Relationships

is a type of:	autosomal recessive disease primary immunodeficiency disease autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 35 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TYK2	tyk2	Immunodeficiency 35	611521

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None