Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature

[Introduction] Since the first description of gain of function (GOF) mutations in signal transducer and activator of transcription (STAT) 1, more than 300 patients have been described with a broad clinical phenotype including infections and severe immune dysregulation. Whilst Jak inhibitors (JAKinib...

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Bibliographic Details
Authors: Deyá-Martinez, Ángela, Rivière, Jacques G., Roxo-Junior, Pérsio, Ramakers, Jan, Bloomfield, Markéta, Guisado Hernández, Paloma, Blanco Lobo, Pilar, Abu Jamra, Soraya Regina, Esteve-Sole, Ana, Kanderova, Veronika, García-García, Ana, López-Corbeto, Mireia, Martínez Pomar, Natalia, Martín Nalda, Andrea, Alsina, Laia, Neth, Olaf, Olbrich, Peter
Format: article
Status:Published version
Publication Date:2022
Country:España
Institution:Consejo Superior de Investigaciones Científicas (CSIC)
Repository:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/306359
Online Access:http://hdl.handle.net/10261/306359
https://api.elsevier.com/content/abstract/scopus_id/85129184839
Access Level:Open access
Keyword:Baricitinib
Children
Chronic mucocutaneous candidiasis
Inborn errors of immunity
JAK inhibitors
JAK-STAT pathway
Pediatrics
Primary immunodeficiency disease
Ruxolitinib
STAT1 GOF
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Description
Summary:[Introduction] Since the first description of gain of function (GOF) mutations in signal transducer and activator of transcription (STAT) 1, more than 300 patients have been described with a broad clinical phenotype including infections and severe immune dysregulation. Whilst Jak inhibitors (JAKinibs) have demonstrated benefits in several reported cases, their indications, dosing, and monitoring remain to be established.

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