Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
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DOI：
10.1007/s10875-019-00737-x
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发表时间：
2020-01-17
影响因子：
9.1
通讯作者：
Sullivan, Kathleen E.
中科院分区：
文献类型：
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作者：
Tangye, Stuart G.;Al-Herz, Waleed;Sullivan, Kathleen E.
我们报告了国际免疫学会联合会专家委员会编制的先天性免疫缺陷/原发性免疫缺陷的更新分类。本报告记录了416种先天性免疫缺陷的关键临床和实验室特征，包括自上次更新（2018年1月发布）以来在过去2年中发现的64种基因缺陷，或在早期进行了表征，但此后在后续研究中得到证实或扩展。下一代测序的应用继续加快新的基因缺陷，罕见或常见的快速鉴定;拓宽由已知基因缺陷甚至已知变异引起的疾病的免疫学和临床表型;并实施基因特异性疗法。这些进展有助于更好地了解疾病的分子，细胞和免疫机制，从而提高免疫学知识，同时改善患者及其家属的管理。本报告为遗传性免疫疾病个体的分子诊断提供了宝贵的资源，也为先天性免疫缺陷和相关人类疾病的细胞和分子机制的科学解剖提供了宝贵的资源。
We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 416 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.