Laboratoire d'Immunologie Clinique, d'Inflammation Et d'Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco.
Department of Pediatric Infectious Diseases and Clinical Immunology, A. Harouchi Hospital, Ibn Rochd Medical School, Casablanca, Morocco.
J Clin Immunol. 2022 Oct;42(7):1508-1520. doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6.
The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. This phenotypic classification is aimed for clinicians at the bedside and focuses on clinical features and laboratory phenotypes of specific IEI. In this classification, 485 IEI underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity and auto-inflammation are described, including 55 novel monogenic defects and 1 autoimmune phenocopy. Therefore, all 485 diseases of the genetic classification are presented in this paper in the form of colored tables with essential clinical or immunological phenotype entries.
国际免疫学联盟（IUIS）免疫先天错误专家委员会（EC）在此报告 2022 年更新的表型分类，该分类与最新的基因型分类相辅相成。该表型分类面向床边的临床医生，侧重于特定免疫先天错误的临床特征和实验室表型。在该分类中，描述了 485 种免疫先天错误表型，包括感染、恶性肿瘤、过敏、自身免疫和自身炎症等不同表现，其中包括 55 种新的单基因缺陷和 1 种自身免疫表型模拟疾病。因此，本文以彩色表格的形式呈现了遗传分类的所有 485 种疾病，其中包含了必要的临床或免疫学表型条目。
Zotero 插件