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Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia

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 inve...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5934390/
https://www.ncbi.nlm.nih.gov/pubmed/29725107
http://dx.doi.org/10.1038/s41598-018-25260-8