Pesquisa | BVS IEC

1.

Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation.

Böhm, Svea; Wustrau, Katharina; Pachlopnik Schmid, Jana; Prader, Seraina; Ahlmann, Martina; Yacobovich, Joanne; Beier, Rita; Speckmann, Carsten; Behnisch, Wolfgang; Ifversen, Marianne; Jordan, Michael; Marsh, Rebecca; Naumann-Bartsch, Nora; Mauz-Körholz, Christine; Hönig, Manfred; Schulz, Ansgar; Malinowska, Iwona; Hines, Melissa; Nichols, Kim E; Gil-Herrera, Juana; Talano, Julie-An; Crooks, Bruce; Formankova, Renata; Jorch, Norbert; Bakhtiar, Shahrzad; Kühnle, Ingrid; Streiter, Monika; Nathrath, Michaela; Russo, Alexandra; Dürken, Matthias; Lang, Peter; Lindemans, Caroline; Henter, Jan-Inge; Lehmberg, Kai; Ehl, Stephan.

Blood ; 143(10): 872-881, 2024 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-37992218

2.

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.

Soomann, Maarja; Prader, Seraina; Pinto Monteiro, Aline; Zeilhofer, Ulrike; Hauri-Hohl, Mathias; Güngör, Tayfun; Pachlopnik Schmid, Jana; Trück, Johannes; Felber, Matthias.

J Clin Immunol ; 44(1): 39, 2024 01 02.

Artigo em Inglês | MEDLINE | ID: mdl-38165471

3.

Telomere biology disorders may manifest as common variable immunodeficiency (CVID).

Rolles, Benjamin; Caballero-Oteyza, Andres; Proietti, Michele; Goldacker, Sigune; Warnatz, Klaus; Camacho-Ordonez, Nadezhda; Prader, Seraina; Schmid, Jana Pachlopnik; Vieri, Margherita; Isfort, Susanne; Meyer, Robert; Kirschner, Martin; Brümmendorf, Tim H; Beier, Fabian; Grimbacher, Bodo.

Clin Immunol ; 257: 109837, 2023 12.

Artigo em Inglês | MEDLINE | ID: mdl-37944684

4.

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klämbt, Verena; Soliman, Neveen A; von Hardenberg, Sandra; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Häffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Buckley, Michael F; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm.

J Allergy Clin Immunol ; 148(2): 381-393, 2021 08.

Artigo em Inglês | MEDLINE | ID: mdl-33872655

5.

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.

Zielen, Stefan; Duecker, Ruth Pia; Woelke, Sandra; Donath, Helena; Bakhtiar, Sharhzad; Buecker, Aileen; Kreyenberg, Hermann; Huenecke, Sabine; Bader, Peter; Mahlaoui, Nizar; Ehl, Stephan; El-Helou, Sabine M; Pietrucha, Barbara; Plebani, Alessandro; van der Flier, Michiel; van Aerde, Koen; Kilic, Sara S; Reda, Shereen M; Kostyuchenko, Larysa; McDermott, Elizabeth; Galal, Nermeen; Pignata, Claudio; Pérez, Juan Luis Santos; Laws, Hans-Juergen; Niehues, Tim; Kutukculer, Necil; Seidel, Markus G; Marques, Laura; Ciznar, Peter; Edgar, John David M; Soler-Palacín, Pere; von Bernuth, Horst; Krueger, Renate; Meyts, Isabelle; Baumann, Ulrich; Kanariou, Maria; Grimbacher, Bodo; Hauck, Fabian; Graf, Dagmar; Granado, Luis Ignacio Gonzalez; Prader, Seraina; Reisli, Ismail; Slatter, Mary; Rodríguez-Gallego, Carlos; Arkwright, Peter D; Bethune, Claire; Deripapa, Elena; Sharapova, Svetlana O; Lehmberg, Kai; Davies, E Graham.

J Clin Immunol ; 41(8): 1878-1892, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-34477998

6.

Thrombotic Microangiopathy Associated with Macrophage Activation Syndrome: A Multinational Study of 23 Patients.

Minoia, Francesca; Tibaldi, Jessica; Muratore, Valentina; Gallizzi, Romina; Bracaglia, Claudia; Arduini, Alessia; Comak, Elif; Vougiouka, Olga; Trauzeddel, Ralf; Filocamo, Giovanni; Mastrangelo, Antonio; Micalizzi, Concetta; Kasapcopur, Ozgur; Unsal, Erbil; Kitoh, Toshiyuki; Tsitsami, Elena; Kostik, Mikhail; Schmid, Jana Pachlopnik; Prader, Seraina; Laube, Guido; Maritsi, Despoina; Jelusic, Marija; Shenoi, Susan; Vastert, Sebastiaan; Ardissino, Gianluigi; Cron, Randy Q; Ravelli, Angelo.

J Pediatr ; 235: 196-202, 2021 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-33836183

7.

Fevers and ulcers in a newborn-Think genetics and act quickly.

Soomann, Maarja; Gilmour, Kimberly; Güngör, Tayfun; Pachlopnik Schmid, Jana; Spyropoulou, Vasiliki; Trück, Johannes; Prader, Seraina.

Pediatr Allergy Immunol ; 35(3): e14102, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38445565

8.

Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening.

Soomann, Maarja; Prader, Seraina; Pachlopnik Schmid, Jana; Güngör, Tayfun; Trück, Johannes.

J Clin Immunol ; 43(3): 554-556, 2023 04.

Artigo em Inglês | MEDLINE | ID: mdl-36596882

9.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Giannelou, Angeliki; Wang, Hongying; Zhou, Qing; Park, Yong Hwan; Abu-Asab, Mones S; Ylaya, Kris; Stone, Deborah L; Sediva, Anna; Sleiman, Rola; Sramkova, Lucie; Bhatla, Deepika; Serti, Elisavet; Tsai, Wanxia Li; Yang, Dan; Bishop, Kevin; Carrington, Blake; Pei, Wuhong; Deuitch, Natalie; Brooks, Stephen; Edwan, Jehad H; Joshi, Sarita; Prader, Seraina; Kaiser, Daniela; Owen, William C; Sonbul, Abdullah Al; Zhang, Yu; Niemela, Julie E; Burgess, Shawn M; Boehm, Manfred; Rehermann, Barbara; Chae, JaeJin; Quezado, Martha M; Ombrello, Amanda K; Buckley, Rebecca H; Grom, Alexi A; Remmers, Elaine F; Pachlopnik, Jana M; Su, Helen C; Gutierrez-Cruz, Gustavo; Hewitt, Stephen M; Sood, Raman; Risma, Kimberly; Calvo, Katherine R; Rosenzweig, Sergio D; Gadina, Massimo; Hafner, Markus; Sun, Hong-Wei; Kastner, Daniel L; Aksentijevich, Ivona.

Ann Rheum Dis ; 77(4): 612-619, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29358286

10.

Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report.

Lewandowska, Dagmara W; Capaul, Riccarda; Prader, Seraina; Zagordi, Osvaldo; Geissberger, Fabienne-Desirée; Kügler, Martin; Knorr, Marcus; Berger, Christoph; Güngör, Tayfun; Reichenbach, Janine; Shah, Cyril; Böni, Jürg; Zbinden, Andrea; Trkola, Alexandra; Pachlopnik Schmid, Jana; Huber, Michael.

BMC Infect Dis ; 18(1): 33, 2018 01 11.

Artigo em Inglês | MEDLINE | ID: mdl-29325543

11.

Incidental splenomegaly in a teenager.

Baghin, Veronika; Prader, Seraina; Sirin, Selma; Pachlopnik Schmid, Jana; Trück, Johannes.

Arch Dis Child Educ Pract Ed ; 108(3): 196-198, 2023 06.

Artigo em Inglês | MEDLINE | ID: mdl-35940852

12.

Modern management of phagocyte defects.

Lanini, Lorenza Lisa Serena; Prader, Seraina; Siler, Ulrich; Reichenbach, Janine.

Pediatr Allergy Immunol ; 28(2): 124-134, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-27612320

13.

Erythropoiesis defect observed in STAT3 GOF patients with severe anemia.

Mauracher, Andrea A; Eekels, Julia J M; Woytschak, Janine; van Drogen, Audrey; Bosch, Alessandra; Prader, Seraina; Felber, Matthias; Heeg, Maximillian; Opitz, Lennart; Trück, Johannes; Schroeder, Silke; Adank, Eva; Klocperk, Adam; Haralambieva, Eugenia; Zimmermann, Dieter; Tantou, Sofia; Kotsonis, Kosmas; Stergiou, Aikaterini; Kanariou, Maria G; Ehl, Stephan; Boyman, Onur; Sediva, Anna; Renella, Raffaele; Schmugge, Markus; Vavassori, Stefano; Pachlopnik Schmid, Jana.

J Allergy Clin Immunol ; 145(4): 1297-1301, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-31857100

14.

Beat Richner MD.

Prader, Seraina.

Eur Heart J ; 40(15): 1173-1174, 2019 Apr 14.

Artigo em Inglês | MEDLINE | ID: mdl-30982068

15.

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.

García-García, Ana; Pérez de Diego, Rebeca; Flores, Carlos; Rinchai, Darawan; Solé-Violán, Jordi; Deyà-Martínez, Àngela; García-Solis, Blanca; Lorenzo-Salazar, José M; Hernández-Brito, Elisa; Lanz, Anna-Lisa; Moens, Leen; Bucciol, Giorgia; Almuqamam, Mohamed; Domachowske, Joseph B; Colino, Elena; Santos-Perez, Juan Luis; Marco, Francisco M; Pignata, Claudio; Bousfiha, Aziz; Turvey, Stuart E; Bauer, Stefanie; Haerynck, Filomeen; Ocejo-Vinyals, Javier Gonzalo; Lendinez, Francisco; Prader, Seraina; Naumann-Bartsch, Nora; Pachlopnik Schmid, Jana; Biggs, Catherine M; Hildebrand, Kyla; Dreesman, Alexandra; Cárdenes, Miguel Ángel; Ailal, Fatima; Benhsaien, Ibtihal; Giardino, Giuliana; Molina-Fuentes, Agueda; Fortuny, Claudia; Madhavarapu, Swetha; Conway, Daniel H; Prando, Carolina; Schidlowski, Laire; Martínez de Saavedra Álvarez, María Teresa; Alfaro, Rafael; Rodríguez de Castro, Felipe; Meyts, Isabelle; Hauck, Fabian; Puel, Anne; Bastard, Paul; Boisson, Bertrand; Jouanguy, Emmanuelle; Abel, Laurent.

J Exp Med ; 220(5)2023 05 01.

Artigo em Inglês | MEDLINE | ID: mdl-36880831

16.

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.

Trachsel, Tina; Prader, Seraina; Steindl, Katharina; Pachlopnik Schmid, Jana.

Front Immunol ; 13: 867206, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36341443

17.

X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report.

Prader, Seraina; Ritz, Nicole; Baleydier, Frédéric; Andre, Maya C; Stähli, Noémie; Schmid, Kevin; Schmid, Hanna; Woerner, Andreas; Diesch, Tamara; Meyer Sauteur, Patrick M; Trück, Johannes; Gebistorf, Fabienne; Opitz, Lennart; Killian, Michael P; Marchetti, Tommaso; Vavassori, Stefano; Blanchard-Rohner, Géraldine; Mc Lin, Valerie; Grazioli, Serge; Pachlopnik Schmid, Jana.

Front Pediatr ; 9: 691024, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-34414143

18.

Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations.

Trück, Johannes; Prader, Seraina; Natalucci, Giancarlo; Hagmann, Cornelia; Brotschi, Barbara; Kelly, Janet; Bassler, Dirk; Steindl, Katharina; Rauch, Anita; Baumgartner, Matthias; Fingerhut, Ralph; Hauri-Hohl, Mathias; Güngör, Tayfun; Pachlopnik Schmid, Jana; Berger, Christoph; Reichenbach, Janine.

Swiss Med Wkly ; 150: w20254, 2020 Jun 15.

Artigo em Inglês | MEDLINE | ID: mdl-32579701

19.

Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis.

Felber, Matthias; Steward, Colin G; Kentouche, Karim; Fasth, Anders; Wynn, Robert F; Zeilhofer, Ulrike; Haunerdinger, Veronika; Volkmer, Benjamin; Prader, Seraina; Gruhn, Bernd; Ehl, Stephan; Lehmberg, Kai; Müller, Daniel; Gennery, Andrew R; Albert, Michael H; Hauck, Fabian; Rao, Kanchan; Veys, Paul; Hassan, Moustapha; Lankester, Arjan C; Schmid, Jana Pachlopnik; Hauri-Hohl, Mathias M; Güngör, Tayfun.

Blood Adv ; 4(9): 1998-2010, 2020 05 12.

Artigo em Inglês | MEDLINE | ID: mdl-32384542

20.

Severe T-cell lymphopenia in a patient with microduplication 22q11.2 identified by newborn screening.

Soomann, Maarja; Prader, Seraina; Lorenzini, Tiziana; Soulard, Clara; Sayasith, Khampoun; Haddad, Elie; Schmid, Jana Pachlopnik.

J Allergy Clin Immunol Pract ; 2024 May 08.

Artigo em Inglês | MEDLINE | ID: mdl-38729303

BVS IEC

Instituto Evandro Chagas

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