Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation-Reference-Cited by-同舟云学术

Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation

Published:2020-07-28 Issue:4 Volume:71 Page:e132-e133
ISSN:0277-2116
Container-title:Journal of Pediatric Gastroenterology & Nutrition
language:en
Short-container-title:

Author:

Acker Karen P.,Borlack Rachel,Iuga Alina,Remotti Helen E.,Soderquist Craig R.,Okada Satoshi,Tsumura Miyuki,Casanova Jean-Laurent,Picoraro Joseph,Puel Anne,Kinberg Sivan,Demirdag Yesim

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Gastroenterology,Pediatrics, Perinatology and Child Health

Reference7 articles.

1. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis;Liu;J Exp Med,2011

2. The effects of STAT1 dysfunction on the gut;Thoeni;LymphoSign J,2015

3. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype;Toubiana;Blood,2016

4. Novel gain-of-function mutation in Stat1 sumoylation site leads to CMC/CID phenotype responsive to ruxolitinib;Al Shehri;J Clin Immunol,2019

5. Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations;Forbes;J Allergy Clin Immunol,2018

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