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 (JAKinibs...

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Detalles Bibliográficos
Autores principales: Deyà-Martínez, Angela, Rivière, Jaques G., Roxo-Junior, Pérsio, Ramakers, Jan, Bloomfield, Markéta, Guisado Hernandez, Paloma, Blanco Lobo, Pilar, Abu Jamra, Soraya Regina, Esteve-Sole, Ana, Kanderova, Veronika, García-García, Ana, Lopez-Corbeto, Mireia, Martinez Pomar, Natalia, Martín-Nalda, Andrea, Alsina, Laia, Neth, Olaf, Olbrich, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402491/
https://www.ncbi.nlm.nih.gov/pubmed/35486339
http://dx.doi.org/10.1007/s10875-022-01257-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402491/
https://www.ncbi.nlm.nih.gov/pubmed/35486339
http://dx.doi.org/10.1007/s10875-022-01257-x

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