4.7 Article

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

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

  1. German Federal Ministry of Education and Research (Bundesministerium fur Bildung und Forschung [BMBF]) [01GM0896, 01GM1111B, 01GM1517C, 01EO1303, 01ZZ1801B]
  2. European Union [HEALTH-F2-2008-201549]
  3. Novartis
  4. GlaxoSmithKline
  5. LFB
  6. UCB UK
  7. Pharming
  8. Plasma Protein Therapeutics Association
  9. Care-for-Rare Foundation
  10. PROimmune e.V.
  11. ERN RITA
  12. European Society for Immunodeficiencies

向作者/读者索取更多资源

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.)

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