Inborn Errors of Immunity: how to diagnose them?
Inborn Errors of Immunity: how to diagnose them?
复制标题
先天免疫缺陷：如何诊断？
DOI：
10.1016/j.jped.2020.11.007
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发表时间：
2021-03
影响因子：
3.3
通讯作者：
Goudouris, Ekaterini Simoes
中科院分区：
文献类型：
--
作者：
Grumach, Anete Sevciovic;Goudouris, Ekaterini Simoes
关键词：
先天性免疫错误的特点是传染性疾病和免疫失调的表现。临床表型的多样性使其难以指导实验室调查。本文的目的是在免疫系统原发性缺陷的背景下更新免疫能力的研究。在Pubmed上检索了近五年发表的文章，用英语、法语或西班牙语检索，检索词为“诊断”或“调查”、“免疫缺陷”或“原发性免疫缺陷”或“先天性免疫缺陷”，而不是“HIV”。还参考了最近的教科书版本。免疫系统能力调查应根据临床表型开始。相关数据包括：传染病的特征（部位、复发、感染原的类型、对治疗的反应）、症状发作时的年龄和相关表现（生长障碍、过敏、自身免疫、恶性肿瘤、发烧和未确定感染或自身免疫的炎症迹象）以及家族史。这些数据有助于选择要执行的测试。先天性免疫错误的诊断研究应以患者的临床特征为指导，旨在优化补充检查的使用。许多诊断只能通过基因检测来获得，而这种检测并不总是可用的。然而，不应因为没有确定的诊断而延误实施保护病人生命和健康的治疗措施。
Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation. This article aims to update the investigation of immunological competence in the context of primary defects of the immune system. Searches were carried out on Pubmed to review articles published in the last five years, in English, French or Spanish, using the terms “diagnosis” OR “investigation” AND “immunodeficiency” or “primary immunodeficiency” or “inborn errors of immunity” NOT “HIV”. Recent textbook editions have also been consulted. The immune system competence investigation should be started based on clinical phenotypes. Relevant data are: characterization of infectious conditions (location, recurrence, types of infectious agents, response to treatment), age during symptom onset and associated manifestations (growth impairment, allergy, autoimmunity, malignancies, fever and signs of inflammation without the identification of infection or autoimmunity) and family history. These data contribute to the selection of tests to be performed. The diagnostic investigation of Inborn Errors of Immunity should be guided by the clinical characterization of patients, aiming to optimize the use of complementary tests. Many diagnoses are attained only through genetic tests, which are not always available. However, the absence of a diagnosis of certainty should never delay the implementation of therapeutic measures that preserve patient life and health.
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影响因子：
9.1
作者：
Picard C;Bobby Gaspar H;Al-Herz W;Bousfiha A;Casanova JL;Chatila T;Crow YJ;Cunningham-Rundles C;Etzioni A;Franco JL;Holland SM;Klein C;Morio T;Ochs HD;Oksenhendler E;Puck J;Tang MLK;Tangye SG;Torgerson TR;Sullivan KE
通讯作者：
Sullivan KE
影响因子：
9.1
作者：
Tangye, Stuart G.;Al-Herz, Waleed;Sullivan, Kathleen E.
通讯作者：
Sullivan, Kathleen E.
DOI：
10.1007/978-1-4419-7073-2_6
发表时间：
2011-01-01
期刊：
HEMATOPOIETIC GROWTH FACTORS IN ONCOLOGY
影响因子：
--
作者：
Dale, David C.;Welte, Karl
通讯作者：
Welte, Karl
DOI：
10.1016/j.jaip.2020.05.008
发表时间：
2020-11-01
影响因子：
9.4
作者：
Cordero, Elisa;Goycochea-Valdivia, Walter;Neth, Olaf
通讯作者：
Neth, Olaf
影响因子：
9.1
作者：
Bousfiha, Aziz;Jeddane, Leila;Tangye, Stuart G.
通讯作者：
Tangye, Stuart G.