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Can I read Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6 on EtoBox?
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6 by Safa Baris; Mehdi Benamar; Qian Chen; Mehmet Cihangir Catak; Mónica Martínez-Blanco; Muyun Wang; Jason Fong; Michel J. Massaad; Asena Pinar Sefer; Altan Kara; Royala Babayeva; Sevgi Bilgic Eltan; Ayse Deniz Yucelten; Emine Bozkurtlar; Leyla Cinel; Elif Karakoc-Aydiner; Yumei Zheng; Hao Wu; Ahmet Ozen; Klaus Schmitz-Abe; Talal A. Chatila is a Medicine article available to read on EtoBox.
What is Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6 about?
Background Inborn errors of immunity have been implicated in causing immune dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses. Objectives This study sought to characterize a novel gain-of-function STAT6 mutation identified in a child with severe allergic manifestations. Methods Whole-exome and targeted gene sequencing, lymphocyte characterization, and molecular and functional analyses of mutated STAT6 were performed. Results This study reports a child with a missense mutation in the DNA binding domain of STAT6 (c.1114G>A, p.E372K) who presented with severe atopic dermatitis, eosinophilia, and elevated IgE. Naive lymphocytes from the affected patient displayed increased TH2- and suppressed TH1- and TH17-cell responses. The mutation augmented both basal and cytokine-induced STAT6 phosphorylation without affecting dephosphorylation kinetics. Treatment with the Janus kinase 1/2 inhibitor ruxolitinib reversed STAT6 hyperresponsiveness to IL-4, normalized TH1 and TH17 cells, suppressed the eosinophilia, and improved the patient’s atopic dermatitis. Conclusions This study identified a novel inborn error of immunity due to a STAT6 gain-of-function m
Who reads Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6?
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- Author
- Safa Baris; Mehdi Benamar; Qian Chen; Mehmet Cihangir Catak; Mónica Martínez-Blanco; Muyun Wang; Jason Fong; Michel J. Massaad; Asena Pinar Sefer; Altan Kara; Royala Babayeva; Sevgi Bilgic Eltan; Ayse Deniz Yucelten; Emine Bozkurtlar; Leyla Cinel; Elif Karakoc-Aydiner; Yumei Zheng; Hao Wu; Ahmet Ozen; Klaus Schmitz-Abe; Talal A. Chatila
- Publisher
- Elsevier BV
- Published
- 2023
- Language
- EN
- Field
- Medicine (Health Sciences)