期刊
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
卷 148, 期 5, 页码 1332-+出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2021.04.015
关键词
Primary immunodeficiency; inborn error of immunity; presenting symptom; immune dysregulation; autoimmune; inflamma-tory; syndromic; warning signs; registry
资金
- German Federal Ministry of Education and Research (Bundesministerium fur Bildung und Forschung [BMBF]) [01GM0896, 01GM1111B, 01GM1517C, 01EO1303, 01ZZ1801B]
- European Union [HEALTH-F2-2008-201549]
- Novartis
- GlaxoSmithKline
- LFB
- UCB UK
- Pharming
- Plasma Protein Therapeutics Association
- Care-for-Rare Foundation
- PROimmune e.V.
- ERN RITA
- European Society for Immunodeficiencies
A study analyzed the age-related initial presenting manifestations of IEI in different disease cohorts, finding that the majority of patients initially presented with infections, while some had immune dysregulation or a combination of both. Males predominated before the age of 10, shifting to females after the age of 40. Infections were most prevalent as a first manifestation in patients over the age of 30.
Background: 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. Objective: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods: 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. Results: 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. Conclusions: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations. (J Allergy Clin Immunol 2021;148:1332-41.)
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据