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Article

Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.

Journal of clinical immunology - 1 May 2021

Kayaoglu Basak, Kasap Nurhan, Yilmaz Naz Surucu, Charbonnier Louis Marie, Geckin Busranur, Akcay Arzu, Eltan Sevgi Bilgic, Ozturk Gulyuz, Ozen Ahmet, Karakoc-Aydiner Elif, Chatila Talal A, Gursel Mayda, Baris Safa

Abstract excerpt

PURPOSE: Patients with heterozygous gain-of-function (GOF) mutations in STAT1 frequently exhibit chronic mucocutaneous candidiasis (CMC), immunodeficiency and autoimmune manifestations. Several treatment options including targeted therapies and hematopoietic stem cell transplantation (HSCT) are available for STAT1 GOF patients but modalities and outcomes are not well established. Herein, we aimed to unravel the...

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PMID: 33475942
DOI: 10.1007/s10875-020-00943-y

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Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.PMID 33475942Read ↗

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A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.Semantic proximity Read ↗

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Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.Semantic proximity Read ↗

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