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伊朗首个炎症性肠病生物样本库的建立与发展,该生物样本库疑似与原发性免疫缺陷病相关。

Establishment and Development of the First Biobank of Inflammatory Bowel Disease, Suspected to Primary Immunodeficiency Diseases in Iran.

作者信息

Sherkat Roya, Rostami Soodabeh, Yaran Majid, Emami Mohammad Hassan, Saneian Hosein, Tavakoli Hamid, Adibi Peyman, Behnam Mahdieh, Sheykhbahaei Saba, Bagherpour Bahram, Khoshnevisan Razieh, Najafi Somayeh

机构信息

Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Infectious Diseases and Tropical Medicine Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Adv Biomed Res. 2018 Mar 27;7:45. doi: 10.4103/abr.abr_278_16. eCollection 2018.

Abstract

BACKGROUND

Inflammatory bowel disease (IBD) might be an immunodeficiency rather than an excessive inflammatory reaction. IBD, suspected to primary immunodeficiency diseases biobank (IBDSPIDB) as a resource for researches can help improve the prevention, diagnosis, and illness treatment and the health promotion throughout the society. Therefore, we launched the biobank of IBDSPID for the first time in Iran.

MATERIALS AND METHODS

This study was designed to provide the IBDSPIDB to have a high-quality DNA, RNA, and cDNA. Among of 365 patients, 39 have inclusion criteria that were as below: (1) IBD diagnosis before 5 years of age. (2) Resistance to conventional therapy of IBD. (3) Severe IBD. (4) Signs of SPID (including ear infections or pneumonia or recurrent sinus within the 1-year period; failure to thrive; poor response to the prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID).

RESULTS

Out of 39 patients, 51.3% were males. The mean age was 32.92 ± 15.90 years old. Ulcerative colitis (79.5%) was more than Crohn's disease. The majority of patients (50.0%) had severe IBDSPID. Resistance to drugs and consanguinity was 12.9% and 47.4%, respectively. Age at onset in 65.8% of patients was after 17 years old. Patients with autoimmune, allergy, and immunodeficiency disease history were 33.3%, 33.3%, and 10.36%, respectively. RNA and cDNA yields large quantities of high-quality DNA obtained and stored.

CONCLUSION

Our biobank would be valuable for future genetic and molecular study to be more about the relation between IBD and PID.

摘要

背景

炎症性肠病(IBD)可能是一种免疫缺陷而非过度炎症反应。疑似原发性免疫缺陷疾病生物样本库(IBDSPIDB)作为一种研究资源,有助于改善全社会的预防、诊断、疾病治疗及健康促进。因此,我们在伊朗首次启动了IBDSPID生物样本库。

材料与方法

本研究旨在建立一个能提供高质量DNA、RNA和cDNA的IBDSPIDB。在365例患者中,39例符合以下纳入标准:(1)5岁前诊断为IBD。(2)对IBD传统治疗耐药。(3)重度IBD。(4)原发性免疫缺陷病(SPID)体征(包括1年内耳部感染、肺炎或反复鼻窦炎;生长发育迟缓;长期使用抗生素反应不佳;持续性鹅口疮或皮肤脓肿;或原发性免疫缺陷病家族史)。

结果

39例患者中,51.3%为男性。平均年龄为32.92±15.90岁。溃疡性结肠炎(79.5%)多于克罗恩病。大多数患者(50.0%)患有重度IBDSPID。药物耐药率和近亲结婚率分别为12.9%和47.4%。65.8%的患者发病年龄在17岁以后。有自身免疫性疾病、过敏和免疫缺陷病病史的患者分别为33.3%、33.3%和10.36%。获得并储存了大量高质量的DNA、RNA和cDNA。

结论

我们的生物样本库对于未来更多关于IBD与PID关系的基因和分子研究将具有重要价值。

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