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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Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Sci Rep
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group UK 2018
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5934390/
https://ncbi.nlm.nih.gov/pubmed/29725107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-25260-8
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