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Δευτέρα 30 Ιανουαρίου 2017

Tocilizumab Promotes Regulatory T-cell Alleviation in STAT3 Gain-of-function−associated Multi-organ Autoimmune Syndrome

Publication date: Available online 30 January 2017
Source:Clinical Therapeutics
Author(s): Tawfik Khoury, Vered Molho-Pessach, Yuval Ramot, Abu Rmeileh Ayman, Orly Elpeleg, Neville Berkman, Abraham Zlotogorski, Yaron Ilan
PurposeSignal transducer and activator of transcription 3 is a member of a family of proteins involved in the regulation of inflammation, differentiation, proliferation, and survival of cells. Here we describe a 38-year-old male who has experienced gastrointestinal, dermatologic, pulmonary, and malignant manifestations.MethodsWhole-exome sequencing, validated by Sanger sequencing, was performed after extensive investigations.FindingsWhole-exome sequencing revealed a heterozygous missense mutation in the signal transducer and activator of transcription 3 gene, c.1261G>A (p.G421R). Fluorescence-activated cell sorting analysis of peripheral T lymphocytes revealed low levels of CD4+CD25+FoxP3 and CD8+CD25+FoxP3 regulatory T cells. After treatment with 2 cycles of tocilizumab, an interleukin-6 receptor antibody, a significant increase in the level of regulatory T cells was observed, accompanied by clinical improvement.ImplicationsThis case sheds light on the emerging role of signal transducer and activator of transcription 3 gain-of-function mutation in the pathogenesis of autoimmune diseases, and further addresses the therapeutic role of interleukin-6 blocker treatment in this syndrome.



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