Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity:A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

Objective: Inborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes the early application of next-generation sequencing (NGS) as a diagnostic method in the evaluation of IEI a promising development. We aimed to provide an overview of the diagnostic yield and time to diagnosis in a cohort of patients suspected of IEI and evaluated by an NGS based IEI panel early in the diagnostic trajectory in a multicenter setting in the Ne... Mehr ...

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Verfasser: Elsink, Kim
Huibers, Manon M.H.
Hollink, Iris H.I.M.
Simons, Annet
Zonneveld-Huijssoon, Evelien
van der Veken, Lars T.
Leavis, Helen L.
Henriet, Stefanie S.V.
van Deuren, Marcel
van de Veerdonk, Frank L.
Potjewijd, Judith
Berghuis, Dagmar
Dalm, Virgil A.S.H.
Vermont, Clementien L.
van de Ven, Annick A.J.M.
Lambeck, Annechien J.A.
Abbott, Kristin M.
van Hagen, P. Martin
de Bree, Godelieve J.
Kuijpers, Taco W.
Frederix, Geert W.J.
van Gijn, Mariëlle E.
van Montfrans, Joris M.
Dokumenttyp: Artikel
Erscheinungsdatum: 2021
Reihe/Periodikum: Elsink , K , Huibers , M M H , the Genetics First for Primary Immunodeficiency Disorders Consortium , Hollink , I H I M , Simons , A , Zonneveld-Huijssoon , E , van der Veken , L T , Leavis , H L , Henriet , S S V , van Deuren , M , van de Veerdonk , F L , Potjewijd , J , Berghuis , D , Dalm , V A S H , Vermont , C L , van de Ven , A A J M , Lambeck , A J A , Abbott , K M , van Hagen , P M , de Bree , G J , Kuijpers , T W , Frederix , G W J , van Gijn , M E & van Montfrans , J M 2021 , ' Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity : A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers ' , Frontiers in Immunology , vol. 12 , 780134 . https://doi.org/10.3389/fimmu.2021.780134 , https://doi.org/10.3389/fimmu.2021.780134
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26685002
Datenquelle: BASE; Originalkatalog
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Link(s) : https://pure.eur.nl/en/publications/0fa0e452-8257-4df4-a247-dc7f01e9acf0