Droz-Georget Stéphanie, Riccio Orbicia, Royer-Bertrand Béryl, Superti-Furga Andrea, Candotti Fabio
Laboratoire des déficits immunitaires héréditaires, Service d'immunologie et allergie, CHUV et Université de Lausanne, 1011 Lausanne.
Service de médecine génétique, CHUV et Université de Lausanne, 1011 Lausanne.
Rev Med Suisse. 2017 Apr 5;13(557):763-766.
Establishing the definitive diagnosis in the case of inherited immune defects (IID) is often challenging because the clinical features can be heterogeneous, atypical and overlapping different disease entities. The next generation sequencing technology (NGS) allows identifying genetic variants that are responsible for the observed clinical presentations. The use of NGS applied to the genes mutated in IIDs or known to be involved in the development, differentiation and regulation of the immune system allows to target hundreds of relevant genes in well characterized patients suspected of carrying inherited immune defects. This approach answers both diagnostic and research needs, facilitates the understanding of the mechanisms that underlie IIDs, and ultimately leads to the discovery of new therapeutic targets.
对于遗传性免疫缺陷（IID）病例，确立明确诊断往往具有挑战性，因为临床特征可能具有异质性、非典型性且与不同疾病实体相互重叠。新一代测序技术（NGS）能够识别导致所观察到的临床表现的基因变异。将NGS应用于IID中发生突变或已知参与免疫系统发育、分化和调节的基因，能够在疑似患有遗传性免疫缺陷的特征明确的患者中靶向数百个相关基因。这种方法满足了诊断和研究需求，有助于理解IID的潜在机制，并最终促成新治疗靶点的发现。
