Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
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DOI：
10.1007/s10875-020-00758-x
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发表时间：
2020-02-11
影响因子：
9.1
通讯作者：
Tangye, Stuart G.
中科院分区：
文献类型：
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作者：
Bousfiha, Aziz;Jeddane, Leila;Tangye, Stuart G.
自2013年以来，国际免疫学会联合会（IUIS）先天性免疫缺陷（IEI）专家委员会（EC）发布了IEI的最新表型分类，该表型分类伴随并补充了其基因型分类为十个表。这种表型分类是用户友好的，并作为临床医生在床边的资源。现在有430种单基因IEI潜在表型，如感染、恶性肿瘤、过敏、自身免疫和自身炎症。我们在此报告了2019年的表型分类，包括65种新疾病。诊断算法是基于临床和实验室表型的IEI的十大类。
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and serves as a resource for clinicians at the bedside. There are now 430 single-gene IEI underlying phenotypes as diverse as infection, malignancy, allergy, autoimmunity, and autoinflammation. We herein report the 2019 phenotypic classification, including the 65 new conditions. The diagnostic algorithms are based on clinical and laboratory phenotypes for each of the ten broad categories of IEI.