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Title:Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Authors:ID Thalhammer, Julian (Author)
ID Kindle, Gerhard (Author)
ID Nieters, Alexandra (Author)
ID Rusch, Stephan (Author)
ID Seppänen, Mikko R. J. (Author)
ID Fischer, Alain (Author)
ID Grimbacher, Bodo (Author)
ID Edgar, David (Author)
ID Buckland, Matthew (Author)
ID Mahlaoui, Nizar (Author)
ID Kopač, Peter (Other)
ID Kopač, Peter (Research coworker)
Files:URL URL - Source URL, visit https://www.sciencedirect.com/science/article/pii/S0091674921006540?dgcid=coauthor
 
Language:English
Typology:1.01 - Original Scientific Article
Organization: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
Publication status:In print
Publication version:Version of Record
Place of publishing:ZDA
Publisher:Elsevier
Year of publishing:2021
Number of pages:str. 1-10.e5
Numbering:Vol. 147, iss.
PID:20.500.12556/DiRROS-14090 New window
UDC:616-097
ISSN on article:1097-6825
COBISS.SI-ID:64144899 New window
Copyright:(c)2021 Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology
Note:Nasl. z nasl. zaslona; Član delovne skupine iz Slovenije: Peter Kopač; Opis vira z dne 21. 5. 2021;
Publication date in DiRROS:28.05.2021
Views:947
Downloads:214
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Record is a part of a journal

Title:The journal of allergy and clinical immunology
Shortened title:J. allergy clin. immunol.
Publisher:Elsevier
ISSN:1097-6825
COBISS.SI-ID:3614228 New window

Secondary language

Language:Undetermined
Keywords:imunost, avtoimunske bolezni, vnetje, znaki in simptomi, registri, prirojene okvare imunosti, primarne imunske pomanjkljivosti, imunska disregulacija


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