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Title:Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Authors:Thalhammer, Julian (Author)
Kindle, Gerhard (Author)
Nieters, Alexandra (Author)
Rusch, Stephan (Author)
Seppänen, Mikko R. J. (Author)
Fischer, Alain (Author)
Grimbacher, Bodo (Author)
Edgar, David (Author)
Buckland, Matthew (Author)
Mahlaoui, Nizar (Author)
Kopač, Peter (Other)
Language:English
Tipology:1.01 - Original Scientific Article
Organisation:Logo UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
Abstract: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.
Keywords:immunity, autoimmune diseases, inflammation, signs and symptoms, registries, inborn error of immunity, primary immunodeficiency, immune dysregulation
Year of publishing:2021
Publisher:Elsevier
Source:ZDA
COBISS_ID:64144899 Link is opened in a new window
UDC:616-097
ISSN on article:1097-6825
Note:Nasl. z nasl. zaslona; Član delovne skupine iz Slovenije: Peter Kopač; Opis vira z dne 21. 5. 2021;
Views:515
Downloads:86
Files:URL URL - Source URL, visit https://www.sciencedirect.com/science/article/pii/S0091674921006540?dgcid=coauthor
 
Journal:J. allergy clin. immunol.
Elsevier
 
Metadata:XML RDF-CHPDL DC-XML DC-RDF
Rights:(c)2021 Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology
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