Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

IF 4.3 3区材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC

ACS Applied Electronic Materials Pub Date : 2024-04-22 DOI:10.1007/s12026-024-09477-6

Ayca Aykut, Asude Durmaz, Neslihan Karaca, Nesrin Gulez, Ferah Genel, Fatih Celmeli, M. Tuba Cogurlu, Mediha Akcan, Dilek Cicek, Funda Erol Cipe, Ayca Kiykim, Alisan Yıldıran, Kursad Unluhizarci, Sara Sebnem Kilic, Guzide Aksu, Omur Ardeniz, Necil Kutukculer

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引用次数: 0

Abstract

Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and susceptibility to malignancies. According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, SH2DIA, XIAP, CD27 (TNFRSF7), FAS (TNFRSF6), FASLG (TNFSF6), CASP10, CASP8, FADD, LRBA, STAT3, AIRE, ITCH, ZAP70, TPP2, JAK1, PEPD, FOXP3, IL2RA, CTLA4, BACH2, IL2RB, DEF6, FERMT1, IL10, IL10RA, IL10RB, NFAT5, TGFB1, and RIPK1 genes. We designed a targeted next-generation sequencing (TNGS) workflow using the Ion AmpliSeq™ Primary Immune Deficiency Research Panel to sequence 264 genes associated with IEIs on the Ion S5™ Sequencer. In this study, we report the identification of 38 disease-causing variants, including 16 novel ones, detected in 40 patients across 15 distinct PIRD genes. The application of next-generation sequencing enabled rapid and precise diagnosis of patients with PIRDs.

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原发性免疫调节紊乱（PIRD）：土耳其突变谱的扩大和十六种新型变体的鉴定

人类先天性免疫失常（IEIs）包括一组临床和遗传异质性疾病，从轻微病例到严重的危及生命的类型不等。其中，原发性免疫调节紊乱（PIRDs）是 IEIs 的一个子集，其临床表型多种多样，主要表现为严重的过敏、自身免疫、淋巴细胞增殖、高炎症、自身炎症和对恶性肿瘤的易感性。根据国际免疫学会联盟（IUIS）的最新报告，PIRD 由多种基因突变引起，包括 LYST、RAB27A、AP3B1、AP3D1、PRF1、UNC13D、STX11、STXBP2、FAAP24、SLC7A7、RASGRP1、CD70、CTPS1、RLTPR、ITK、MAGT1、PRKCD、TNFRSF9、SH2DIA、XIAP、CD27（TNFRSF7）、FAS（TNFRSF6）、FASLG（TNFSF6）、CASP10、CASP8、FADD、LRBA、STAT3、AIR、ICH、ZAP70、TPP2、JAK1、PEPD、FOXP3、IL2RA、CTLA4、BACH2、IL2RB、DEF6、FERMT1、IL10、IL10RA、IL10RB、NFAT5、TGFB1 和 RIPK1 基因。我们设计了一种靶向新一代测序（TNGS）工作流程，使用 Ion AmpliSeq™ 原发性免疫缺陷研究面板，在 Ion S5™ 测序仪上对 264 个与 IEI 相关的基因进行测序。在本研究中，我们报告了在 40 名患者中发现的 15 个不同的 PIRD 基因中的 38 个致病变异，包括 16 个新变异。新一代测序技术的应用实现了对 PIRD 患者的快速、精确诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACS Applied Electronic Materials Multiple-

CiteScore

7.20

自引率

4.30%

发文量

567