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

Autor: Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans, the Genetics First for Primary Immunodeficiency Disorders Consortium, Aerde van, KJ, Altenburg, J, Armbrust W, Barendregt, BH, Berg van den, JM, Bredius, RGM, Buddingh, EP, Burg van der, M, Ellerbroek, PM, Ernst, RF, Fraaij, PLA, Hermans, M, Hoischen, A, Hout van der, AH, Jansen, MHA, Jolink, H, Jonkers, RE, Laar van, JAM, Leeuw de, K, Legger, GE, Leijten, EFA, Limper, M, Lindemans, CA, Oever ten, J, Pieterse, M, Rombach, SM, Rossum van, AMC, Rutgers, A, Santen, GWE, Schölvinck, EH, Simon, A, Stol, K, Vervenne RML

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

ObjectiveInborn 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 a

Externí odkaz: https://doaj.org/article/1589a20c7b90482f8384cabc050aeb63

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.

Autor: Bouwman, MG, Rombach, SM, Linthorst, GE, Poorthuis, BJHM, Lekanne Deprez, RH, Aerts, JMFG, Wijburg, FA

Publikováno v: Clinical Genetics; Nov2011, Vol. 80 Issue 5, p500-502, 3p, 1 Black and White Photograph, 1 Chart

Long-Term Follow-Up of Patients with Scleritis After Rituximab Treatment Including B Cell Monitoring.

Autor: van Bilsen K; Department of Internal Medicine, Section Clinical Immunology Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Vergouwen DPC; Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Velthoven MEJ; Centrum Medical Retinal and Uveitis, The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Missotten TOAR; Centrum Medical Retinal and Uveitis, The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Rombach SM; Department of Internal Medicine, Section Clinical Immunology Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Zelm MC; Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Immunology and Pathology, Central Clinical School, Monash University and Alfred Hospital, Melbourne, Australia., Berkowska MA; Department of Internal Medicine, Section Clinical Immunology Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Immunology, Leiden University Medical Center, Leiden, The Netherlands., van Hagen PM; Department of Internal Medicine, Section Clinical Immunology Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Kuijpers RWAM; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Ophthalmology, Albert Schweitzer Hospital, Dordrecht, The Netherlands.; Department of Ophthalmology, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium., van Laar JAM; Department of Internal Medicine, Section Clinical Immunology Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Publikováno v: Ocular immunology and inflammation [Ocul Immunol Inflamm] 2024 Sep; Vol. 32 (7), pp. 1268-1273. Date of Electronic Publication: 2023 Jul 12.

Clinical Features and Predictors of Treatment Outcome in Patients with Ocular Tuberculosis from the Netherlands and Indonesia: The OculaR TB in Low versus High Endemic Countries (ORTEC) Study.

Autor: Putera I; Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Internal Medicine Section Allergy and Clinical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Immunology, Clinical and Laboratory Medical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Ophthalmology, Faculty of Medicine, Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia., Ten Berge JCEM; Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands., Thiadens AAHJ; Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands., Dik WA; Department of Immunology, Clinical and Laboratory Medical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands., Agrawal R; Lee Kong Chian School of Medicine, Nanyang Technological University of Singapore, Singapore.; National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore, Singapore.; Duke NUS Medical School, Singapore, Singapore.; Ocular Infections and Antimicrobial Group, Singapore Eye Research Institute, Singapore, Singapore.; National Institute for Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK., van Hagen PM; Department of Internal Medicine Section Allergy and Clinical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Immunology, Clinical and Laboratory Medical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands., La Distia Nora R; Department of Immunology, Clinical and Laboratory Medical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Ophthalmology, Faculty of Medicine, Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia., Rombach SM; Department of Internal Medicine Section Allergy and Clinical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.

Publikováno v: Ocular immunology and inflammation [Ocul Immunol Inflamm] 2024 May 31, pp. 1-12. Date of Electronic Publication: 2024 May 31.

The Humira in Ocular Inflammations Taper (HOT) Study.

Autor: Pichi F; From the Eye Institute (F.P., S.D.S., A.A., P.N.), Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Cleveland Clinic Lerner College of Medicine (F.P., S.D.S., A.A., P.N.), Case Western Reserve University , Cleveland, Ohio, USA. Electronic address: ilmiticopicchio@gmail.com., Smith SD; From the Eye Institute (F.P., S.D.S., A.A., P.N.), Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Cleveland Clinic Lerner College of Medicine (F.P., S.D.S., A.A., P.N.), Case Western Reserve University , Cleveland, Ohio, USA., Goldstein DA; Department of Ophthalmology (D.A.G., T.M.J.), Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Baddar D; Watany Eye Hospital (D.B., T.K.A.G.), Cairo, Egypt; Research Institute of Ophthalmology (D.B.), Giza, Egypt., Gerges TKA; Watany Eye Hospital (D.B., T.K.A.G.), Cairo, Egypt., Janetos TM; Department of Ophthalmology (D.A.G., T.M.J.), Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Ruiz-Cruz M; Asociación Para Evitar la Ceguera en México (M.R-C., L.E.C.), I. A. P., Mexico City, Mexico., Elena Concha-Del-Río L; Asociación Para Evitar la Ceguera en México (M.R-C., L.E.C.), I. A. P., Mexico City, Mexico., Maruyama K; Department of Vision Informatics (K.M.), Graduate School of Medicine, Osaka University, Osaka, Japan; Institute for Open and Transdisciplinary Research Initiatives (K.M.), Integrated Frontier Research for Medical Science Division, Osaka University, Osaka, Japan., Carina Ten Berge J; Department of Ophthalmology (J.C.), Erasmus MC, University Medical Centre, Rotterdam, The Netherlands., Rombach SM; Department of Internal Medicine, Allergy and Clinical Immunology (S.M.R.), Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Cimino L; Department of Surgery, Medicine, Dentistry and Morphological Sciences, with Interest in Transplants, Oncology and Regenerative Medicine (L.C.), University of Modena and Reggio Emilia, Reggio Emilia, Italy; Ocular Immunology Unit (L.C., E.B.), Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Bolletta E; Ocular Immunology Unit (L.C., E.B.), Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Miserocchi E; School of Medicine (E.M., P.S.), Vita-Salute San Raffaele University, Milan, Italy; Department of Ophthalmology (E.M., P.S.), IRCCS San Raffaele Scientific Institute, Milan, Italy., Scandale P; School of Medicine (E.M., P.S.), Vita-Salute San Raffaele University, Milan, Italy; Department of Ophthalmology (E.M., P.S.), IRCCS San Raffaele Scientific Institute, Milan, Italy., Serafino M; Department of Surgical Science (M.S., P.C.), Division of Ophthalmology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Camicione P; Department of Surgical Science (M.S., P.C.), Division of Ophthalmology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Androudi S; Department of Ophthalmology (S.A.), University of Thessaly, Thessaly, Greece., Gonzalez-Lopez JJ; Ophthalmology Department (J.J.G-L.), Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain., Lim LL; Centre for Eye Research Australia (L.L.L., N.S.), Royal Victorian Eye and Ear Hospital, University of Melbourne, Victoria, Australia., Singh N; Centre for Eye Research Australia (L.L.L., N.S.), Royal Victorian Eye and Ear Hospital, University of Melbourne, Victoria, Australia., Gupta V; Advance Eye Center (V.G., N.G.), Post Graduate Institute of Medical Education and Research, Chandigarh, India., Gupta N; Advance Eye Center (V.G., N.G.), Post Graduate Institute of Medical Education and Research, Chandigarh, India., Amer R; Department of Ophthalmology (R.A.), Hadassah Medical Center, Jerusalem, Israel., Dodds EM; Consultores Oftalmológicos (E.M.D., S.I.), Buenos Aires, Argentina., Inchauspe S; Consultores Oftalmológicos (E.M.D., S.I.), Buenos Aires, Argentina., Munk MR; Inselspital (M.R.M., E.D.), University Hospital Bern, Bern, Switzerland; Augenarzt-Praxisgemeinschaft Gutblick AG (M.R.M.), Bern, Switzerland; Feinberg School of Medicine (M.R.M.), Northwestern University, Chicago, Illinois, USA., Donicova E; Inselspital (M.R.M., E.D.), University Hospital Bern, Bern, Switzerland., Carreño E; Hospital Universitario Fundación Jiménez Díaz (E.C.), Madrid, Spain., Takeuchi M; Department of Ophthalmology (M.T.), National Defense Medical College, Namiki Tokorozawa Saitama, Japan., Chee SP; Singapore National Eye Centre (S-P.C., M.C.C.), Singapore; Department of Ophthalmology (S-P.C., M.C.C.), Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Singapore Eye Research Institute (S-P.C.), Singapore; Department of Ophthalmology and Visual Sciences Academic Clinical Program (S-P.C.), Duke-NUS Medical School, Singapore., Chew MC; Singapore National Eye Centre (S-P.C., M.C.C.), Singapore; Department of Ophthalmology (S-P.C., M.C.C.), Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Agarwal A; From the Eye Institute (F.P., S.D.S., A.A., P.N.), Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Cleveland Clinic Lerner College of Medicine (F.P., S.D.S., A.A., P.N.), Case Western Reserve University , Cleveland, Ohio, USA., Schlaen A; Hospital Universitario Austral (A.S.), Buenos Aires, Argentina; Hospital De Clinicas 'José de San Martín' (A.S., R.A.G., C.A.C.), Universidad de Buenos Aires, Buenos Aires, Argentina., Gómez RA; Hospital De Clinicas 'José de San Martín' (A.S., R.A.G., C.A.C.), Universidad de Buenos Aires, Buenos Aires, Argentina., Couto CA; Hospital De Clinicas 'José de San Martín' (A.S., R.A.G., C.A.C.), Universidad de Buenos Aires, Buenos Aires, Argentina., Khairallah M; Department of Ophthalmology (M.K.), Fattouma Bourguiba University Hospital, Faculty of Medicine, University of Monastir, Tunisia., Neri P; From the Eye Institute (F.P., S.D.S., A.A., P.N.), Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Cleveland Clinic Lerner College of Medicine (F.P., S.D.S., A.A., P.N.), Case Western Reserve University , Cleveland, Ohio, USA.

Publikováno v: American journal of ophthalmology [Am J Ophthalmol] 2024 Feb; Vol. 258, pp. 87-98. Date of Electronic Publication: 2023 Sep 19.