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Št. zadetkov: 2
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Julian Thalhammer, Gerhard Kindle, Alexandra Nieters, Stephan Rusch, Mikko R. J. Seppänen, Alain Fischer, Bodo Grimbacher, David Edgar, Matthew Buckland, Nizar Mahlaoui, Peter Kopač
Izvirni znanstveni članek
Oznake: prirojene okvare imunosti;primarne imunske pomanjkljivosti;imunska disregulacija;inborn error of immunity;primary immunodeficiency;immune dysregulation;
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, ...
Leto: 2021 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Current transition practice for primary immunodefciencies and autoinfammatory diseases in Europe
Israni Muskan, Bethany Nicholson, Nizar Mahlaoui, Laura Obici, Linda Rossi-Semerano, Helen J Lachmann, Georgia Hayward, Mojca Zajc Avramovič, Aurelien Gufroy, Virgil Dalm
Izvirni znanstveni članek
Oznake: sindrom akutne dihalne stiske;Transition;primary immunodefciencies;autoinfammatory diseases;network;
Background: Due to the absence of curative treatments for inborn errors of immunity (IEI), children born with IEI require long-term follow-up for disease manifestations and related complications that occur over the lifespan. Effective transition from pediatric to adult services is known to significa ...
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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