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JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
The New England Journal of Medicine ( IF 70.670 ) Pub Date : 2020-01-16 , DOI: 10.1056/nejmoa1905633
Fahad Alsohime,Marta Martin-Fernandez,Mohamad-Hani Temsah,Majed Alabdulhafid,Tom Le Voyer,Malak Alghamdi,Xueer Qiu,Najla Alotaibi,Areej Alkahtani,Sofija Buta,Emmanuelle Jouanguy,Ayman Al-Eyadhy,Conor Gruber,Gamal M Hasan,Fahad A Bashiri,Rabih Halwani,Hamdy H Hassan,Saleh Al-Muhsen,Nouf Alkhamis,Zobaida Alsum,Jean-Laurent Casanova,Jacinta Bustamante,Dusan Bogunovic,Abdullah A Alangari

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 inflammation and is lethal during the perinatal period. We describe a neonate who presented with hydrocephalus, necrotizing cellulitis, systemic inflammation, and respiratory failure. Exome sequencing identified a homozygous mutation at an essential splice site on USP18. The encoded protein was expressed but devoid of negative regulatory ability. Treatment with ruxolitinib was followed by a prompt and sustained recovery. (Funded by King Saud University and others.).
更新日期:2020-01-16

 

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