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Material Type: Artigo
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TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Reviewvan der Spek, Jet ; Groenwold, Rolf H. H. ; van der Burg, Mirjam ; van Montfrans, Joris M.Journal of clinical immunology, 2015-05, Vol.35 (4), p.416-430 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and ChildBlom, Maartje ; Pico-Knijnenburg, Ingrid ; van Montfrans, Joris M. ; Bredius, Robbert G. M. ; van der Burg, Mirjam ; Swen, Jesse J. ; Berghuis, DagmarJournal of clinical immunology, 2022, Vol.42 (1), p.199-202 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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3 |
Material Type: Artigo
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Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable ImmunodeficiencyBerbers, Roos-Marijn ; van der Wal, M. Marlot ; van Montfrans, Joris M. ; Ellerbroek, Pauline M. ; Dalm, Virgil A. S. H. ; van Hagen, P. Martin ; Leavis, Helen L. ; van Wijk, FemkeJournal of clinical immunology, 2021-10, Vol.41 (7), p.1621-1632 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable ImmunodeficiencyBerbers, Roos-Marijn ; Drylewicz, Julia ; Ellerbroek, Pauline M. ; van Montfrans, Joris M. ; Dalm, Virgil A. S. H. ; van Hagen, P. Martin ; Keller, Baerbel ; Warnatz, Klaus ; van de Ven, Annick ; van Laar, Jaap M. ; Nierkens, Stefan ; Leavis, Helen L.Journal of clinical immunology, 2021-02, Vol.41 (2), p.362-373 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease ActivityNijhof, Linde N. ; van Brussel, Marco ; Pots, Esther M. ; van Litsenburg, Raphaële R. L. ; van de Putte, Elise M. ; van Montfrans, Joris M. ; Nijhof, Sanne L.Journal of clinical immunology, 2021-08, Vol.41 (6), p.1198-1207 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the NetherlandsBlom, Maartje ; Bredius, Robbert G. M. ; Jansen, Marleen E. ; Weijman, Gert ; Kemper, Evelien A. ; Vermont, Clementien L. ; Hollink, Iris H. I. M. ; Dik, Willem A. ; van Montfrans, Joris M. ; van Gijn, Mariëlle E. ; Henriet, Stefanie S. ; van Aerde, Koen J. ; Koole, Wouter ; Lankester, Arjan C. ; Dekkers, Eugènie H. B. M. ; Schielen, Peter C. J. I. ; de Vries, Martine C. ; Henneman, Lidewij ; van der Burg, MirjamJournal of clinical immunology, 2021-01, Vol.41 (1), p.99-108 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody DeficiencySmits, Bas M. ; Kleine Budde, Ilona ; de Vries, Esther ; ten Berge, Ineke J. M. ; Bredius, Robbert G. M. ; van Deuren, Marcel ; van Dissel, Jaap T. ; Ellerbroek, Pauline M. ; van der Flier, Michiel ; van Hagen, P. Martin ; Nieuwhof, Chris ; Rutgers, Bram ; Sanders, Lieke E. A. M. ; Simon, Anna ; Kuijpers, Taco W. ; van Montfrans, Joris M.Journal of clinical immunology, 2021-02, Vol.41 (2), p.382-392 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic ReviewYska, Hemmo A. F. ; Elsink, Kim ; Kuijpers, Taco W. ; Frederix, Geert W. J. ; van Gijn, Mariëlle E. ; van Montfrans, Joris M.Journal of clinical immunology, 2019-08, Vol.39 (6), p.577-591 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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9 |
Material Type: Artigo
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DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 PatientsAydin, Susanne E. ; Kilic, Sara Sebnem ; Aytekin, Caner ; Kumar, Ashish ; Porras, Oscar ; Kainulainen, Leena ; Kostyuchenko, Larysa ; Genel, Ferah ; Kütükcüler, Necil ; Karaca, Neslihan ; Gonzalez-Granado, Luis ; Abbott, Jordan ; Al-Zahrani, Daifulah ; Rezaei, Nima ; Baz, Zeina ; Thiel, Jens ; Ehl, Stephan ; Marodi, László ; Orange, Jordan S. ; Sawalle-Belohradsky, Julie ; Keles, Sevgi ; Holland, Steven M. ; Sanal, Özden ; Ayvaz, Deniz C. ; Tezcan, Ilhan ; Al-Mousa, Hamoud ; Alsum, Zobaida ; Hawwari, Abbas ; Metin, Ayse ; Matthes-Martin, Susanne ; Hönig, Manfred ; Schulz, Ansgar ; Picard, Capucine ; Barlogis, Vincent ; Gennery, Andrew ; Ifversen, Marianne ; van Montfrans, Joris ; Kuijpers, Taco ; Bredius, Robbert ; Dückers, Gregor ; Al-Herz, Waleed ; Pai, Sung-Yun ; Geha, Raif ; Notheis, Gundula ; Schwarze, Carl-Philipp ; Tavil, Betül ; Azik, Fatih ; Bienemann, Kirsten ; Grimbacher, Bodo ; Heinz, Valerie ; Gaspar, H. Bobby ; Aydin, Roland ; Hagl, Beate ; Gathmann, Benjamin ; Belohradsky, Bernd H. ; Ochs, Hans D. ; Chatila, Talal ; Renner, Ellen D. ; Su, Helen ; Freeman, Alexandra F. ; Engelhardt, Karin ; Albert, Michael H.Journal of clinical immunology, 2015-02, Vol.35 (2), p.189-198 [Periódico revisado por pares]Boston: Springer USTexto completo disponível |
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10 |
Material Type: Artigo
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Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndromeCuperus, Edwin ; Van Montfrans, Joris M ; Van Gijn, Mariëlle E ; Bastiaens, Maarten T ; De Willigen, Mirjam Ma ; Leguit, Roos J ; Brijnzeel-Koomen, Carla A F M ; Russel, Ingrid M B ; Pasmans, Suzanne G M AEJD. European journal of dermatology, 2017-05, Vol.27 (3), p.313-314 [Periódico revisado por pares]Paris: John Libbey EurotextTexto completo disponível |