Tyk2 deficiency

TYK2 deficiency display the phenotype of the autosomal recessive HIES accompanied by susceptibility to intracellular bacterial infection and unique role of TYK2 in the innate and acquired immune responses in humans.

Alternative names

TYK2D

AR-HIES

Autosomal recessive Tyk2 deficiency

Classification

  • Other well-defined immunodeficiency syndromes

Inheritance

Autosomal recessive

OMIM

*176941 Protein-tyrosine kinase 2; TYK2

%147060 Hyper-IgE syndrome

243700 Job syndrome

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Hyper-IgE recurrent infection syndrome

IDR factfile for STAT3 deficiency

Incidence

Incidence is not known.