Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23.
Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.
We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts.
We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered.
Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years.
An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
先天性免疫缺陷（IEI）是罕见病，这使得诊断具有挑战性。更好地描述初始表现形式应提高认识并避免诊断延误。尽管感染易感性增加是众所周知的初始 IEI 表现，但其他表现形式的频率知之甚少。
我们旨在分析包括不同 IEI 疾病队列在内的与年龄相关的 IEI 初始表现。
我们分析了欧洲免疫缺陷学会注册中心的 16486 名患者的数据。由于登记的患者数量有限，排除了自身炎症性疾病患者。
总体而言，68%的患者最初仅表现为感染，9%仅表现为免疫失调，9%同时存在两者。综合征特征是 12%的初始表现，4%仅存在实验室异常，1.5%仅因家族史而被诊断，0.8%表现为恶性肿瘤。三分之二的 IEI 患者在 6 岁之前就诊，但四分之一的患者仅在成年后出现初始症状。免疫失调在 6 至 25 岁之间最常被认为是初始 IEI 表现，男性优势持续到 10 岁，40 岁后转为女性优势。感染是 30 岁以上患者首次表现的最常见表现。
如果仅关注以感染为中心的警告信号，将错过约 25%最初表现为其他表现的 IEI 患者。
