Article
Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia.
Scientific reports - 3 May 2018
Nemoto Michiko, Hattori Hiroyoshi, Maeda Naoko, Akita Nobuhiro, Muramatsu Hideki, Moritani Suzuko, Kawasaki Tomonori, Maejima Masami, Ode Hirotaka, Hachiya Atsuko, Sugiura Wataru, Yokomaku Yoshiyuki, Horibe Keizo, Iwatani Yasumasa
Abstract excerpt
Complete tyrosine kinase 2 (TYK2) deficiency has been previously described in patients with primary immunodeficiency diseases. The patients were infected with various pathogens, including mycobacteria and/or viruses, and one of the patients developed hyper-IgE syndrome. A detailed immunological investigation of these patients revealed impaired responses to type I IFN, IL-10, IL-12 and IL-23, which are associated...
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