tyrosine kinase 2 deficiency

tyrosine kinase 2 deficiency

An autosomal recessive condition (OMIM:611521) characterised by primary immunodeficiency, recurrent skin abscesses, pneumonia and elevated serum IgE.

Molecular pathology
Defects in TYK2 cause tyrosine kinase 2 deficiency.
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References in periodicals archive ?
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.
Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency.

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