کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8644658 | 1569764 | 2018 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report
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کلمات کلیدی
HLHTregIVIgFHLFOXP3+Double-negative T cellsinterferon - اینترفرونIFN - اینترفرون هاinterleukin - اینترلوکینIntravenous immunoglobulin - اﯾﻤﻮﻧﻮﮔﻠﻮﺑﻮﻟﯿﻦ ورﯾﺪیAlps - رشته کوههای آلپ، کوه های آلپT helper cell - سلول کمکیRegulatory T cells - سلولهای تی تنظیمکنندهautoimmune lymphoproliferative syndrome - سندرم لنفوپرولیفراتیو autoimmuneHemophagocytic lymphohistiocytosis - لنفوهیستسیتوز هموفوگوسیتیکfamilial hemophagocytic lymphohistiocytosis - لنفوهیستسیتوزیس هموفاگوسیتیسم خانوادگی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Autoimmune lymphoproliferative syndrome (ALPS) usually presents in childhood with fever, nonmalignant splenomegaly and lymphadenopathy along with hemocytopenia. This case report describes a 10-year-old boy presenting with signs of autoimmune disease, splenomegaly, hepatomegaly and resistant hemocytopenia. Sirolimus controlled the relapsed thrombocytopenia after splenectomy. Sequencing of the FAS gene identified two spontaneous heterozygous mutations (c.234â¯Tâ¯>â¯G, p.D78E) (c.236dupA, p.P80Tfs*26). The boy's homozygous missense variation (c.2588Gâ¯>â¯A, p.G863D) (rs140184929) in UNC13D gene had been identified as being related to familial hemophagocytic lymphohistiocytosis (FHL). TCRαβâ¯+â¯CD4/CD8 double-negative T cells (markers of ALPS) were not significantly increased from the outset. Elevated cytokines, such as interferon (IFN)-γ, interleukin (IL)-6 and tumor necrosis factor α decreased to normal levels after splenectomy whereas IL-10 remained high. Immunological analysis of the patient revealed a marked depletion of forkhead-box P3+ expressing regulatory T cells (Treg) and Th17 cells. The obtained data demonstrate that mutations to FAS and UNC13D which result in overwhelming T-cell and macrophage activation, one associated with inhibited Treg cell development and a severe ALPS-like symptom. Therefore, we propose that variations of UND13D may be a risk factor of ALPS development.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 672, 25 September 2018, Pages 45-49
Journal: Gene - Volume 672, 25 September 2018, Pages 45-49
نویسندگان
Hao Gu, Jie Ma, Zhenping Chen, Jing Wang, Rui Zhang, Runhui Wu,