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Material Type: Artigo
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Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantationMaria Teresa de la Morena David Leonard; Troy R Torgerson; Otavio Cabral Marques; Mary Anne Slatter; Asghar Aghamohammadi; Sharat Chandra; Luis Murguia Favela; Francisco A Bonilla; Maria Kanariou; Rongras Damrongwatanasuk; Caroline Y Kuo; Christopher C Dvorak; Isabelle Meyts; Karin Chen; Lisa Kobrynski; Neena Kapoor; Darko Richter; Daniela DiGiovanni; Fatima Dhalla; Evangelia Farmaki; Carsten Speckmann; Teresa Español; Anna YU Shcherbina; Imelda Celine Guerra Hanson; Jiri Litzman; John M Routes; Melanie Wong; Ramsay Fuleihan; Suranjith L Seneviratne; Trudy N Small; Ales Janda; Liliana Bezrodnik; Reinhard Seger; Andrea Gomez Raccio; John David M Edgar; Janet Chou; Jordan Keith Abbott; Joris van Montfrans; Luis Ignacio González Granado; Nancy Bunin; Necil Kutukculer; Paul Gray; Gisela Seminario; Srdjan Pasic; Victor Aquino; Christian Wysocki; Hassan Abolhassani; Morna Dorsey; Charlotte Cunningham Rundles; Alan Paul Knutsen; John William Sleasman; Beatriz Tavares Costa Carvalho; Antonio Condino-Neto; Eyal Grunebaum; Helen Chapel; Hans Dieter Ochs; Alexandra Hult Filipovich; Mort Cowan; Andrew Gennery; Andrew James Cant; Luigi D Notarangelo; Chaim M RoifmanJournal of Allergy and Clinical Immunology v. 139, n. 4, p. 1282-1292, 2017Philadelphia 2017Localização: ICB - Inst. Ciências Biomédicas (PC ICB BMI SEP 2017 )(Acessar) |
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Material Type: Artigo
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Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficienciesNijman, Isaac J., PhD ; van Montfrans, Joris M., MD, PhD ; Hoogstraat, Marlous, BAS ; Boes, Marianne L., PhD ; van de Corput, Lisette, PhD ; Renner, Ellen D., MD, PhD ; van Zon, Patrick, BSc ; van Lieshout, Stef, BSc ; Elferink, Martin G., PhD ; van der Burg, Mirjam, PhD ; Vermont, Clementien L., MD, PhD ; van der Zwaag, Bert, PhD ; Janson, Esther, BSc ; Cuppen, Edwin, PhD ; Ploos van Amstel, Johannes K., PhD ; van Gijn, Marielle E., PhDJournal of allergy and clinical immunology, 2014-02, Vol.133 (2), p.529-534.e1 [Periódico revisado por pares]New York, NY: Mosby, IncTexto completo disponível |
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Material Type: Artigo
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Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome RegistryMaccari, Maria Elena ; Abolhassani, Hassan ; Aghamohammadi, Asghar ; Aiuti, Alessandro ; Aleinikova, Olga ; Bangs, Catherine ; Baris, Safa ; Barzaghi, Federica ; Baxendale, Helen ; Buckland, Matthew ; Burns, Siobhan O ; Cancrini, Caterina ; Cant, Andrew ; Cathébras, Pascal ; Cavazzana, Marina ; Chandra, Anita ; Conti, Francesca ; Coulter, Tanya ; Devlin, Lisa A ; Edgar, J David M ; Faust, Saul ; Fischer, Alain ; Garcia-Prat, Marina ; Hammarström, Lennart ; Heeg, Maximilian ; Jolles, Stephen ; Karakoc-Aydiner, Elif ; Kindle, Gerhard ; Kiykim, Ayca ; Kumararatne, Dinakantha ; Grimbacher, Bodo ; Longhurst, Hilary ; Mahlaoui, Nizar ; Milota, Tomas ; Moreira, Fernando ; Moshous, Despina ; Mukhina, Anna ; Neth, Olaf ; Neven, Benedicte ; Nieters, Alexandra ; Olbrich, Peter ; Ozen, Ahmet ; Pachlopnik Schmid, Jana ; Picard, Capucine ; Prader, Seraina ; Rae, William ; Reichenbach, Janine ; Rusch, Stephan ; Savic, Sinisa ; Scarselli, Alessia ; Scheible, Raphael ; Sediva, Anna ; Sharapova, Svetlana O ; Shcherbina, Anna ; Slatter, Mary ; Soler-Palacin, Pere ; Stanislas, Aurelie ; Suarez, Felipe ; Tucci, Francesca ; Uhlmann, Annette ; van Montfrans, Joris ; Warnatz, Klaus ; Williams, Anthony Peter ; Wood, Phil ; Kracker, Sven ; Condliffe, Alison Mary ; Ehl, StephanFrontiers in immunology, 2018-03, Vol.9, p.543-543 [Periódico revisado por pares]Switzerland: FrontiersTexto completo disponível |
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Material Type: Artigo
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Novel mutations in TNFRSF7 / CD27 : Clinical, immunologic, and genetic characterization of human CD27 deficiencyAlkhairy, Omar K., MD ; Perez-Becker, Ruy, MD ; Driessen, Gertjan J., MD, PhD ; Abolhassani, Hassan, MD ; van Montfrans, Joris, MD, PhD ; Borte, Stephan, MD ; Choo, Sharon, MD ; Wang, Ning, PhD ; Tesselaar, Kiki, PhD ; Fang, Mingyan, PhD ; Bienemann, Kirsten, MD ; Boztug, Kaan, MD ; Daneva, Ana, MSc ; Mechinaud, Francoise, MD ; Wiesel, Thomas, MD ; Becker, Christian, MD ; Dückers, Gregor, MD ; Siepermann, Kathrin, MD ; van Zelm, Menno C., PhD ; Rezaei, Nima, MD, PhD ; van der Burg, Mirjam, PhD ; Aghamohammadi, Asghar, MD, PhD ; Seidel, Markus G., MD ; Niehues, Tim, MD ; Hammarström, Lennart, MD, PhDJournal of allergy and clinical immunology, 2015-09, Vol.136 (3), p.703-712.e10 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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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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Similar recombination-activating gene ( RAG ) mutations result in similar immunobiological effects but in different clinical phenotypesIJspeert, Hanna, MSc ; Driessen, Gertjan J., MD, PhD ; Moorhouse, Michael J., PhD ; Hartwig, Nico G., MD, PhD ; Wolska-Kusnierz, Beata, MD ; Kalwak, Krzysztof, MD ; Pituch-Noworolska, Anna, MD ; Kondratenko, Irina, MD ; van Montfrans, Joris M., MD, PhD ; Mejstrikova, Ester, MD ; Lankester, Arjan C., MD, PhD ; Langerak, Anton W., PhD ; van Gent, Dik C., PhD ; Stubbs, Andrew P., PhD ; van Dongen, Jacques J.M., MD, PhD ; van der Burg, Mirjam, PhDJournal of allergy and clinical immunology, 2014-04, Vol.133 (4), p.1124-1133.e1 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Exhaustion of the CD8 + T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase DeltaWentink, Marjolein W J ; Mueller, Yvonne M ; Dalm, Virgil A S H ; Driessen, Gertjan J ; van Hagen, P Martin ; van Montfrans, Joris M ; van der Burg, Mirjam ; Katsikis, Peter DFrontiers in immunology, 2018-03, Vol.9, p.446-446 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Material Type: Artigo
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IgG trough levels and progression of pulmonary disease in pediatric and adult common variable immunodeficiency disorder patientsJanssen, Willemijn J.M., MD ; Mohamed Hoesein, Firdaus, MD, PhD ; Van de Ven, Annick A.J.M., MD, PhD ; Maarschalk, Jacobien, MD, PhD ; van Royen, Florien, BSc ; de Jong, Pim A., MD, PhD ; Sanders, Elisabeth A.M., MD, PhD ; van Montfrans, Joris M., MD, PhD ; Ellerbroek, Pauline M., MD, PhDJournal of allergy and clinical immunology, 2017-07, Vol.140 (1), p.303-306.e4 [Periódico revisado por pares]United States: Elsevier LimitedTexto completo disponível |
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Material Type: Artigo
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Embracing Complexity beyond Systems Medicine: A New Approach to Chronic Immune DisordersTe Velde, Anje A ; Bezema, Tjitske ; van Kampen, Antoine H C ; Kraneveld, Aletta D ; 't Hart, Bert A ; van Middendorp, Henriët ; Hack, Erik C ; van Montfrans, Joris M ; Belzer, Clara ; Jans-Beken, Lilian ; Pieters, Raymond H ; Knipping, Karen ; Huber, Machteld ; Boots, Annemieke M H ; Garssen, Johan ; Radstake, Tim R ; Evers, Andrea W M ; Prakken, Berent J ; Joosten, IrmaFrontiers in immunology, 2016, Vol.7, p.587-587 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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Material Type: Artigo
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Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2Hashem, Hasan ; Kumar, Ashish R. ; Müller, Ingo ; Babor, Florian ; Bredius, Robbert ; Dalal, Jignesh ; Hsu, Amy P. ; Holland, Steven M. ; Hickstein, Dennis D. ; Jolles, Stephen ; Krance, Robert ; Sasa, Ghadir ; Taskinen, Mervi ; Koskenvuo, Minna ; Saarela, Janna ; van Montfrans, Joris ; Wilson, Keith ; Bosch, Barbara ; Moens, Leen ; Hershfield, Michael ; Meyts, IsabelleBlood, 2017-12, Vol.130 (24), p.2682-2688 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |