J
Jana Pachlopnik Schmid
Researcher at Boston Children's Hospital
Publications - 62
Citations - 3740
Jana Pachlopnik Schmid is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Hemophagocytic lymphohistiocytosis. The author has an hindex of 23, co-authored 51 publications receiving 2835 citations. Previous affiliations of Jana Pachlopnik Schmid include Necker-Enfants Malades Hospital & University of Zurich.
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Journal ArticleDOI
2016 Classification criteria for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: A European league against Rheumatism/American college of Rheumatology/Paediatric rheumatology international trials organisation collaborative initiative
Angelo Ravelli,Francesca Minoia,Sergio Davì,AnnaCarin Horne,Francesca Bovis,Angela Pistorio,Maurizio Aricò,Tadej Avcin,Edward M. Behrens,Fabrizio De Benedetti,Lisa Filipovic,Alexei A. Grom,Jan-Inge Henter,Norman T. Ilowite,Michael B. Jordan,Raju Khubchandani,Toshiyuki Kitoh,Kai Lehmberg,Daniel J. Lovell,Paivi Miettunen,Kim E. Nichols,Seza Ozen,Jana Pachlopnik Schmid,Athimalaipet V Ramanan,Ricardo Russo,Rayfel Schneider,Gary Sterba,Yosef Uziel,Carol A. Wallace,Carine Wouters,Nico M Wulffraat,Erkan Demirkaya,Hermine I. Brunner,Alberto Martini,Nicolino Ruperto,Randy Q. Cron +35 more
TL;DR: Criteria for the classification of macrophage activation syndrome (MAS) in patients with systemic juvenile idiopathic arthritis (JIA) is developed.
Journal ArticleDOI
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP-deficiency) versus type 2 (XLP-2/XIAP-deficiency)
Jana Pachlopnik Schmid,Jana Pachlopnik Schmid,Danielle Canioni,Despina Moshous,Despina Moshous,Fabien Touzot,Nizar Mahlaoui,Fabian Hauck,Fabian Hauck,Hirokazu Kanegane,Eduardo López-Granados,Ester Mejstrikova,Isabelle Pellier,Lionel Galicier,Claire Galambrun,Vincent Barlogis,Pierre Bordigoni,Alain Fourmaintraux,Mohamed Hamidou,Alain Dabadie,Françoise Le Deist,Filomeen Haerynck,Marie Ouachée-Chardin,Pierre-Simon Rohrlich,Jean-Louis Stephan,Christelle Lenoir,Stephanie Rigaud,Stephanie Rigaud,Nathalie Lambert,Michèle Milili,Claudin Schiff,Helen Chapel,Capucine Picard,Capucine Picard,Geneviève de Saint Basile,Geneviève de Saint Basile,Stéphane Blanche,Alain Fischer,Alain Fischer,Sylvain Latour,Sylvain Latour +40 more
TL;DR: This first phenotypic comparison of XLP subtypes should help to improve the diagnosis and the care of patients with XLP conditions.
Journal ArticleDOI
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
Charlotte Schwab,Annemarie Gabrysch,Peter Olbrich,Virginia Patiño,Klaus Warnatz,Daniel Wolff,Akihiro Hoshino,Masao Kobayashi,Kohsuke Imai,Masatoshi Takagi,Ingunn Dybedal,Jamanda A. Haddock,David M. Sansom,José Manuel Lucena,Maximilian Seidl,Annette Schmitt-Graeff,Veronika Reiser,Florian Emmerich,Natalie Frede,Alla Bulashevska,Ulrich Salzer,Desirée Schubert,Seiichi Hayakawa,Satoshi Okada,Maria Kanariou,Zeynep Yesim Kucuk,Hugo Chapdelaine,Lenka Petruzelkova,Zdenek Sumnik,Anna Sediva,Mary Slatter,Peter D. Arkwright,Andrew J. Cant,Hanns-Martin Lorenz,Thomas Giese,Vassilios Lougaris,Alessandro Plebani,Christina Price,Kathleen E. Sullivan,Michel Moutschen,Jiri Litzman,Tomáš Freiberger,Frank L. van de Veerdonk,Mike Recher,Michael H. Albert,Fabian Hauck,Suranjith L. Seneviratne,Jana Pachlopnik Schmid,Antonios G.A. Kolios,Gary Unglik,Christian Klemann,Christian Klemann,Carsten Speckmann,Stephan Ehl,Alan M. Leichtner,Richard S. Blumberg,Andre Franke,Scott B. Snapper,Sebastian Zeissig,Sebastian Zeissig,Sebastian Zeissig,Charlotte Cunningham-Rundles,Lisa Giulino-Roth,Olivier Elemento,Gregor Dückers,Tim Niehues,Eva Fronkova,Veronika Kanderova,Craig D. Platt,Janet Chou,Talal A. Chatila,Raif S. Geha,Elizabeth M. McDermott,Su Bunn,Monika Kurzai,Ansgar Schulz,Laia Alsina,Ferran Casals,Angela Deyà-Martínez,Sophie Hambleton,Hirokazu Kanegane,Kjetil Taskén,Olaf Neth,Bodo Grimbacher,Bodo Grimbacher +84 more
TL;DR: The penetrance, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers, finding affected mutation carriers with CTLA‐4 insufficiency can present in any medical specialty.
Journal ArticleDOI
2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis
Angelo Ravelli,Francesca Minoia,Sergio Davì,AnnaCarin Horne,Francesca Bovis,Angela Pistorio,Maurizio Aricò,Tadej Avcin,Edward M. Behrens,Fabrizio De Benedetti,Lisa Filipovic,Alexei A. Grom,Jan-Inge Henter,Norman T. Ilowite,Michael B. Jordan,Raju Khubchandani,Toshiyuki Kitoh,Kai Lehmberg,Daniel J. Lovell,Paivi Miettunen,Kim E. Nichols,Seza Ozen,Jana Pachlopnik Schmid,Athimalaipet V Ramanan,Ricardo Russo,Rayfel Schneider,Gary Sterba,Yosef Uziel,Carol A. Wallace,Carine Wouters,Nico M Wulffraat,Erkan Demirkaya,Hermine I. Brunner,Alberto Martini,Nicolino Ruperto,Randy Q. Cron +35 more
TL;DR: A set of classification criteria for MAS complicating systemic JIA is developed and preliminary evidence of its validity is provided, which will potentially improve understanding of MAS in systemic Jia and enhance efforts to discover effective therapies, by ensuring appropriate patient enrollment in studies.
Journal ArticleDOI
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management, and outcome of the disease
Claire Booth,Kimberly Gilmour,Paul Veys,Andrew R. Gennery,Mary Slatter,Helen Chapel,Paul T. Heath,Colin G. Steward,Owen P. Smith,Anna O'Meara,Hilary Kerrigan,Nizar Mahlaoui,Marina Cavazzana-Calvo,Alain Fischer,Despina Moshous,Stéphane Blanche,Jana Pachlopnik Schmid,Sylvain Latour,Geneviève de Saint-Basile,Michael H. Albert,Gundula Notheis,Nikolaus Rieber,Brigitte Strahm,Henrike Ritterbusch,Arjan C. Lankester,Nico G. Hartwig,Isabelle Meyts,Alessandro Plebani,Annarosa Soresina,Andrea Finocchi,Claudio Pignata,Emilia Cirillo,Sonia Bonanomi,Christina Peters,Krzysztof Kałwak,Srdjan Pasic,Petr Sedlacek,Janez Jazbec,Hirokazu Kanegane,Kim E. Nichols,I. Celine Hanson,Neena Kapoor,Elie Haddad,Morton J. Cowan,Sharon Choo,Joanne Smart,Peter D. Arkwright,Hubert B. Gaspar +47 more
TL;DR: A large cohort of 91 genetically defined XLP1 patients are described and characteristics and outcome data for 43 patients receiving hematopoietic stem cell transplant (HSCT) and 48 untransplanted patients are reported.