Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
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DOI：
10.1038/s41598-022-14522-1
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发表时间：
2022-06-21
影响因子：
4.6
通讯作者：
Singh, Surjit
中科院分区：
文献类型：
--
作者：
Rawat, Amit;Sharma, Madhubala;Vignesh, Pandiarajan;Jindal, Ankur Kumar;Suri, Deepti;Das, Jhumki;Joshi, Vibhu;Tyagi, Rahul;Sharma, Jyoti;Kaur, Gurjit;Lau, Yu-Lung;Imai, Kohsuke;Nonoyama, Shigeaki;Lenardo, Michael;Singh, Surjit
先天性免疫缺陷 (IEI) 是一组异质的单基因疾病，包括原发性免疫缺陷和影响免疫系统不同方面的其他疾病。新一代测序 (NGS) 是诊断 IEI 的重要工具。我们报告了我们在印度北部昌迪加尔建立 IEI 诊断 NGS 设施的 3 年经验。我们使用了由 44 个已知会导致 IEI 的基因组成的有针对性的定制基因组。使用 Ion Reporter 软件进行变异分析。内部 NGS 使我们能够以最低的成本为 IEI 患者提供基因诊断。在 121 名患者中，有 77 名患者被鉴定出致病变异。这些患者包括患有慢性肉芽肿病、严重联合免疫缺陷、白细胞粘附缺陷、X连锁无丙种球蛋白血症、共济失调性毛细血管扩张症、高IgE综合征、Wiskott Aldrich综合征、孟德尔分枝杆菌疾病易感性、高IgM综合征、自身免疫性淋巴增殖综合征和GATA-2缺陷的患者。本手稿讨论了在我们单位为 IEI 设置和运行目标 NGS 时遇到的挑战。基因诊断帮助我们的 IEI 患者进行遗传咨询、产前诊断和获得适当的治疗选择。
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that include primary immunodeficiency’s and other disorders affecting different aspects of the immune system. Next-Generation Sequencing (NGS) is an essential tool to diagnose IEI. We report our 3-year experience in setting up facilities for NGS for diagnosis of IEI in Chandigarh, North India. We used a targeted, customized gene panel of 44 genes known to result in IEI. Variant analysis was done using Ion Reporter software. The in-house NGS has enabled us to offer genetic diagnoses to patients with IEI at minimal costs. Of 121 patients who were included pathogenic variants were identified in 77 patients. These included patients with Chronic Granulomatous Disease, Severe Combined Immune Deficiency, leukocyte adhesion defect, X-linked agammaglobulinemia, Ataxia Telangiectasia, Hyper-IgE syndrome, Wiskott Aldrich syndrome, Mendelian susceptibility to mycobacterial diseases, Hyper-IgM syndrome, autoimmune lymphoproliferative syndrome, and GATA-2 deficiency. This manuscript discusses the challenges encountered while setting up and running targeted NGS for IEI in our unit. Genetic diagnosis has helped our patients with IEI in genetic counselling, prenatal diagnosis, and accessing appropriate therapeutic options.
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影响因子：
9.1
作者：
Arunachalam AK;Maddali M;Aboobacker FN;Korula A;George B;Mathews V;Edison ES
通讯作者：
Edison ES
影响因子：
3.5
作者：
Rae, W.;Ward, D.;Williams, A. P.
通讯作者：
Williams, A. P.
影响因子：
4.6
作者：
Bukowska-Olech, Ewelina;Popiel, Delfina;Jamsheer, Aleksander
通讯作者：
Jamsheer, Aleksander
影响因子：
2.6
作者：
Dekker, J;de Boer, M;Roos, D
通讯作者：
Roos, D
原发性免疫缺陷疾病的患病率和发病率，2001 - 2007年美国。
影响因子：
9.1
作者：
Kobrynski L;Powell RW;Bowen S
通讯作者：
Bowen S