Immunodeficiency 35
Immunodeficiency 35
Definition
Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.
Also known as autosomal recessive hyper-IgE syndrome due to TYK2 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2, HIES with atypical Mycobacteriosis, autosomal recessive, hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive, IMD35, immunodeficiency 35, immunodeficiency type 35, susceptibility to infection due to TYK2 deficiency, TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency, TYK2 deficiency, tyrosine kinase 2 deficiency — per MONDO