印度DOCK-8缺乏症患者的临床、免疫学和分子研究

IF 4.1 4区 医学 Q2 IMMUNOLOGY
Vijaya Gowri, Akshaya Chougule, Maya Gupta, Prasad Taur, Vaishnavi V Iyengar, Meena Sivasankaran, Deenadayalan Munirathnam, Sushma Krishna, Umair A Bargir, Aparna Dalvi, Priyanka Setia, Neha Jodhawat, Shweta Shinde, Shakuntala S Prabhu, Minnie Bodhanwala, Manisha R Madkaikar, Mukesh M Desai
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引用次数: 0

摘要

DOCK8缺陷影响属于先天和适应性免疫系统的各种细胞亚群。临床诊断具有挑战性,因为许多病例以严重的特应性皮炎为唯一的初始表现。虽然流式细胞术通过评估DOCK8蛋白表达有助于对DOCK8缺陷患者的推定诊断,但这需要后续的分子遗传学分析来证实。目前,造血干细胞移植(HSCT)是治疗这些患者的唯一选择。印度缺乏DOCK8缺乏症的临床多样性和分子谱数据。在本研究中,我们报告了过去5年中印度诊断的17例dock8缺陷患者的临床、免疫学和分子检查结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.

DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive immune systems. Clinical diagnosis is challenging, as many cases present with severe atopic dermatitis as the only initial manifestation. Though flow cytometry helps in the presumptive diagnosis of DOCK8-deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis. Currently, haematopoietic stem cell transplantation (HSCT) is the only curative treatment option available for these patients. There is a paucity of data from India on the clinical diversity and molecular spectrum of DOCK8 deficiency. In the present study, we report the clinical, immunological and molecular findings of 17 DOCK8-deficient patients from India diagnosed over the last 5 years.

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来源期刊
CiteScore
7.70
自引率
5.40%
发文量
109
审稿时长
1 months
期刊介绍: This peer-reviewed international journal publishes original articles and reviews on all aspects of basic, translational and clinical immunology. The journal aims to provide high quality service to authors, and high quality articles for readers. The journal accepts for publication material from investigators all over the world, which makes a significant contribution to basic, translational and clinical immunology.
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