학술논문
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency
Janus-associated kinase 1, ubiquitin-specific peptidase 18
Original Article / Brief Report
Janus-associated kinase 1, ubiquitin-specific peptidase 18
Original Article / Brief Report
Document Type
Clinical report
Author
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; Eyadhy, Ayman al-; Gruber, Conor; Hasan, Gamal M.; Bashiri, Fahad A.; Halwani, Rabih; Hassan, Hamdy H.; Muhsen, Saleh al-; Alkhamis, Nouf; Alsum, Zobaida; Casanova, Jean-Laurent; Bustamante, Jacinta; Bogunovic, Dusan; Alangari, Abdullah A.
Source
The New England Journal of Medicine. Jan 16, 2020, Vol. 382 Issue 3, p256, 10 p.
Subject
Language
English
ISSN
0028-4793
Abstract
A neonate was subjected to exome sequencing, resulting in the identification of a homozygous mutation at an essential splice site on ubiquitin-specific peptidase 1 (USP18). USP18 down-regulates type I interferon signaling by blocking the access of Janus-associated kinase 1 to the type I interferon receptor. Details of the ensuing ruxolitinib treatment regimen and outcome are also given.