کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3349939 | 1216368 | 2015 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome](/preview/png/3349939.png)
چکیده انگلیسی
A spontaneous reversion that restores Wiskott-Aldrich syndrome protein (WASP) expression was reported recently. However, the genetic mechanism underlying the reversion event was unclear. In the present study, a WAS patient with a nonsense mutation (155 CÂ >Â T, R41X) was followed during a three-year period. No expression of WASP was detected in peripheral blood mononucleated cells (PBMCs) in 2009 and a small population of intracellular WASP positive lymphocytes was detected during the following three years. The increasing trend of the revertant genotype was significant. WASP-expressing cells were present mainly CD56+ NK cells and CD8+ T cells. Sorted WASP+ cells were analyzed, indicating that the population of CD3+ T cells increased from 36.81% to 99.8%. Although the revertant cells in vivo may have a growth advantage, the patient presented a persistent autoimmune disease, thrombocytopenia, and died from extensive pulmonary fibrosis. The results suggest that the clinical consequences of T-cell mosaicism in WAS remain difficult to predict and is not sufficient to fully normalize immune functions in patients with WAS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Human Immunology - Volume 76, Issue 6, June 2015, Pages 406-413
Journal: Human Immunology - Volume 76, Issue 6, June 2015, Pages 406-413
نویسندگان
Jing-Wen Xie, Zhi-Yong Zhang, Jun-Feng Wu, Da-Wei Liu, Wei Liu, Yao Zhao, Li-Ping Jiang, Xue-Mei Tang, Mo Wang, Xiao-Dong Zhao,