Clinical Exome Sequencing Data from Patients with Inborn Errors of Immunity: Cohort Level Diagnostic Yield and the Benefit of Systematic Reanalysis

Emil E. Vorsteveld,Caspar I. Van der Made,Sanne P. Smeekens,Janneke H. Schuurs-Hoeijmakers,Galuh Astuti, Heleen Diepstra,Christian Gilissen, Evelien Hoenselaar, Alice Janssen,Kees van Roozendaal,Jettie Sikkema-van Engelen,Wouter Steyaert,Marjan M. Weiss,Helger G. Yntema,Tuomo Mantere,Mofareh S. Alzahrani,Koen van Aerde,Beata Derfalvi,Eissa Ali Faqeih,Stefanie S. V. Henriet, Elise van Hoof, Eman Idressi,Thomas B. Issekutz,Marjolijn C. J. Jongmans,Riikka Keski-Filppula,Ingrid Krapels,Maroeska te Loo,Catharina M. Mulders-Manders,Jaap ten Oever,Judith Potjewijd, Nora Tarig Sarhan, Marjan C. Slot,Paulien A. Terhal, Herman Thijs,Anthony Vandersteen,Els K. Vanhoutte,Frank van de Veerdonk,Gijs van Well,Mihai G. Netea,Annet Simons,Alexander Hoischen

CLINICAL IMMUNOLOGY（2024）

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Key words

Clinical exome sequencing,Inborn errors of immunity,Primary immunodeficiencies,Exome reanalysis,NGS-based sequencing,Longitudinal follow-up,Genomics,Autoimmune disorders,Autoinflammatory disorders

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