Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity.
Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity.
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DOI：
10.3389/fimmu.2021.725587
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发表时间：
2021
影响因子：
7.3
通讯作者：
Liu C
中科院分区：
文献类型：
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作者：
Ren A;Yin W;Miller H;Westerberg LS;Candotti F;Park CS;Lee P;Gong Q;Chen Y;Liu C
随着我们对原发性免疫缺陷病（IEI）认识的不断拓展，免疫失调在其中发挥重要作用这一点也逐渐明晰。在某些情况下，自身免疫、过度炎症反应和淋巴细胞增殖比感染更为严重。因此，免疫失调在疾病监测和治疗中已变得至关重要。近年来，全外显子测序/全基因组测序的广泛应用极大地推动了新型IEI的发现及深入研究。已发现的IEI数量迅速增长，随之而来的是对其发病机制和治疗方法的大量研究。在这篇综述中，我们重点关注新发现的原发性免疫失调疾病，包括SLC7A7、CD122、DEF6、FERMT1、TGFB1、RIPK1、CD137、TET2和SOCS1缺陷。我们将探讨它们的基因突变、症状及当前的治疗方法，并指出该领域存在的空白。
With the expansion of our knowledge on inborn errors of immunity (IEI), it gradually becomes clear that immune dysregulation plays an important part. In some cases, autoimmunity, hyperinflammation and lymphoproliferation are far more serious than infections. Thus, immune dysregulation has become significant in disease monitoring and treatment. In recent years, the wide application of whole-exome sequencing/whole-genome sequencing has tremendously promoted the discovery and further studies of new IEI. The number of discovered IEI is growing rapidly, followed by numerous studies of their pathogenesis and therapy. In this review, we focus on novel discovered primary immune dysregulation diseases, including deficiency of SLC7A7, CD122, DEF6, FERMT1, TGFB1, RIPK1, CD137, TET2 and SOCS1. We discuss their genetic mutation, symptoms and current therapeutic methods, and point out the gaps in this field.
DOI：
10.4049/jimmunol.0902573
发表时间：
2009-12-01
期刊：
Journal of immunology (Baltimore, Md. : 1950)
影响因子：
--
作者：
Canonigo-Balancio AJ;Fos C;Prod'homme T;Bécart S;Altman A
通讯作者：
Altman A