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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 2017Item não circula. Consulte sua biblioteca.(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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CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremiavan Montfrans, Joris M., MD, PhD ; Hoepelman, Andy I.M., MD, PhD ; Otto, Sigrid, BSc ; van Gijn, Marielle, PhD ; van de Corput, Lisette, PhD ; de Weger, Roel A., PhD ; Monaco-Shawver, Linda, BSc ; Banerjee, Pinaki P., PhD ; Sanders, Elisabeth A.M., MD, PhD ; Jol–van der Zijde, Cornelia M., PhD ; Betts, Michael R., PhD ; Orange, Jordan S., MD, PhD ; Bloem, Andries C., PhD ; Tesselaar, Kiki, PhDJournal of allergy and clinical immunology, 2012-03, Vol.129 (3), p.787-793.e6 [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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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) scoreTesch, Victoria Katharina ; Abolhassani, Hassan ; Shadur, Bella ; Zobel, Joachim ; Mareika, Yuliya ; Sharapova, Svetlana ; Karakoc-Aydiner, Elif ; Rivière, Jacques G. ; Garcia-Prat, Marina ; Moes, Nicolette ; Haerynck, Filomeen ; Gonzales-Granado, Luis I. ; Santos Pérez, Juan Luis ; Mukhina, Anna ; Shcherbina, Anna ; Aghamohammadi, Asghar ; Hammarström, Lennart ; Dogu, Figen ; Haskologlu, Sule ; İkincioğulları, Aydan İ. ; Köstel Bal, Sevgi ; Baris, Safa ; Kilic, Sara Sebnem ; Karaca, Neslihan Edeer ; Kutukculer, Necil ; Girschick, Hermann ; Kolios, Antonios ; Keles, Sevgi ; Uygun, Vedat ; Stepensky, Polina ; Worth, Austen ; van Montfrans, Joris M. ; Peters, Anke M.J. ; Meyts, Isabelle ; Adeli, Mehdi ; Marzollo, Antonio ; Padem, Nurcicek ; Khojah, Amer M. ; Chavoshzadeh, Zahra ; Avbelj Stefanija, Magdalena ; Bakhtiar, Shahrzad ; Florkin, Benoit ; Meeths, Marie ; Gamez, Laura ; Grimbacher, Bodo ; Seppänen, Mikko R.J. ; Lankester, Arjan ; Gennery, Andrew R. ; Seidel, Markus G.Journal of allergy and clinical immunology, 2020-05, Vol.145 (5), p.1452-1463 [Periódico revisado por pares]United States: Elsevier IncTexto 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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Neonatal sepsis and transient immunodeficiency: Potential for novel immunoglobulin therapies?Beudeker, Coco R ; Vijlbrief, Daniel C ; van Montfrans, Joris M ; Rooijakkers, Suzan H M ; van der Flier, MichielFrontiers in immunology, 2022-10, Vol.13, p.1016877 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto 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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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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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 |