JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

Deficiency of ubiquitin-specific peptidase 18 (USP18) is a severe type I interferonopathy. USP18 down-regulates type I interferon signaling by blocking the access of Janus-associated kinase 1 (JAK1) to the type I interferon receptor. The absence of USP18 results in unmitigated interferon-mediated in...

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Publicado no:N Engl J Med
Main Authors: Alsohime, Fahad, Martin–Fernandez, Marta, Temsah, Mohamad–Hani, Alabdulhafid, Majed, Le Voyer, Tom, Alghamdi, Malak, Qiu, Xueer, Alotaibi, Najla, Alkahtani, Areej, Buta, Sofija, Jouanguy, Emmanuelle, Al–Eyadhy, Ayman, Gruber, Conor, Hasan, Gamal M., Bashiri, Fahad A., Halwani, Rabih, Hassan, Hamdy H., Al–Muhsen, Saleh, Alkhamis, Nouf, Alsum, Zobaida, Casanova, Jean–Laurent, Bustamante, Jacinta, Bogunovic, Dusan, Alangari, Abdullah A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7155173/
https://ncbi.nlm.nih.gov/pubmed/31940699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1905633
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