Publications.
Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation
Böhm S, Wustrau K, Pachlopnik Schmid J, Prader S, Ahlmann M, Yacobovich J, Beier R, Speckmann C, Behnisch W, Ifversen M, Jordan M, Marsh R, Naumann-Bartsch N, Mauz-Körholz C, Hönig M, Schulz A, Malinowska I, Hines M, Nichols KE, Gil-Herrera J, Talano JA, Crooks B, Formankova R, Jorch N, Bakhtiar S, Kühnle I, Streiter M, Nathrath M, Russo A, Dürken M, Lang P, Lindemans C, Henter JI, Lehmberg K, Ehl SBlood
1. März 2024
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F; ESID Registry Working Party; COVID Human Genetic Effort; Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodríguez-Gallego CJournal of Experimental Medicine
1. April 2023
STAT3 GOF Working Group members; Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth AJournal of Allergy and Clinical Immunology
1. April 2023
Cutaneous manifestations of monogenic auto-inflammatory diseases: An international cohort study from the Juvenile Inflammatory Rheumatism cohort.
Monfort JB, Deshayes S, Dusser P, Bourguiba R, Savey L, Vinit C, Koné-Paut I, Amaryan G, Theodoropoulou K, Guedri R, Pachlopnik J, Belot A, Melki I, Perveen Maldar N; JIR cohort investigators; Hentgen V, Georgin-Lavialle SJournal of the American Academy of Dermatology
1. Dezember 2022
Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.
Engelmann C, Schuhmachers P, Zdimerova H, Virdi S, Hauri-Hohl M, Pachlopnik Schmid J, Grundhoff A, Marsh RA, Wong WW, Münz CCell Death & Disease
1. Oktober 2022
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, JanaFrontiers in Pediatrics
1. August 2021
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, AngeloJournal of Pediatrics
1. August 2021
Immunological Assessment of Pediatric Multisystem Inflammatory Syndrome Related to Coronavirus Disease 2019
Grazioli, Serge; Tavaglione, Fedora; Torriani, Giulia; Wagner, Noemie; Rohr, Marie; L’Huillier, Arnaud G; Leclercq, Charlotte; Perrin, Anne; Bordessoule, Alice; Beghetti, Maurice; Pachlopnik Schmid, Jana; Vavassori, Stefano; Perreau, Matthieu; Eberhardt, Christiane; Didierlaurent, Arnaud; Kaiser, Laurent; Eckerle, Isabella; Roux-Lombard, Pascale; Blanchard-Rohner, GeraldineJournal of the Pediatric Infectious Diseases Society
1. August 2021
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; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Kottke, Raimund; Weber, Achim; Griese, Matthias; Pachlopnik Schmid, Jana; et alJournal of Allergy and Clinical Immunology
1. Juni 2021
Whole-exome sequencing of T-B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants
El Hawary, R; Meshaal, S; Mauracher, Andrea A; Opitz, Lennart; Abd Elaziz, D; Lotfy, S; Eldash, A; Boutros, J; Galal, N; Pachlopnik Schmid, J; Elmarsafy, AClinical and Experimental Immunology
1. März 2021
Obesity-Induced Increase in Cystatin C Alleviates Tissue Inflammation
Dedual, Mara A; Wueest, Stephan; Challa, Tenagne D; Lucchini, Fabrizio C; Aeppli, Tim R J; Borsigova, Marcela; Mauracher, Andrea A; Vavassori, Stefano; Pachlopnik Schmid, Jana; Blüher, Matthias; Konrad, DanielDiabetes
1. September 2020
Maturation of the Human Immunoglobulin Heavy Chain Repertoire With Age.
Ghraichy, Marie; Galson, Jacob D; Kovaltsuk, Aleksandr; von Niederhäusern, Valentin; Pachlopnik Schmid, Jana; Recher, Mike; Jauch, Annaïse J; Miho, Enkelejda; Kelly, Dominic F; Deane, Charlotte M; Trück, JohannesFrontiers in Immunology
1. August 2020
Treatment and management of primary antibody deficiency: German interdisciplinary evidence based consensus guideline
Hanitsch, Leif; Baumann, Ulrich; Boztug, Kaan; Burkhard-Meier, Ulrike; Fasshauer, Maria; Habermehl, Pirmin; Hauck, Fabian; Klock, Gerd; Liese, Johannes; Meyer, Oliver; Müller, Rainer; Pachlopnik-Schmid, Jana; Pfeiffer‐Kascha, Dorothea; Warnatz, Klaus; Wehr, Claudia; Wittke, Kirsten; Niehues, Tim; Bernuth, HorstEuropean Journal of Immunology
1. August 2020
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, JanineSwiss Medical Weekly
1. Juni 2020
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; Pachlopnik Schmid, Jana; Hauri-Hohl, Mathias M; Güngör, TayfunBlood advances
1. Mai 2020
Erythropoiesis defect observed in STAT3 GOF patients with severe anemia
Mauracher AA, Eekels JJM, Woytschak J, van Drogen A, Bosch A, Prader S, Felber M, Heeg M, Opitz L, Trück J, Schroeder S, Adank E, Klocperk A, Haralambieva E, Zimmermann D, Tantou S, Kotsonis K, Stergiou A, Kanariou MG, Ehl S, Boyman O, Sediva A, Renella R, Schmugge M, Vavassori S, Pachlopnik Schmid J.The Journal of Allergy and Clinical Immunology
1. April 2020
Recurrent inflammatory disease caused by a heterozygous mutation in CD48
Volkmer, Benjamin; Planas, Raquel; Gossweiler, Emanuel; Lünemann, Anna; Opitz, Lennart; Mauracher, Andrea; Nüesch, Ursina; Gayden, Tenzin; Kaiser, Daniela; Drexel, Barbara; Dumrese, Claudia; Jabado, Nada; Vavassori, Stefano; Pachlopnik Schmid, JanaJournal of Allergy and Clinical Immunology
1. April 2019
MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes
El Hawary, Rabab E; Mauracher, Andrea A; Meshaal, Safa S; Eldash, Alia; Abd Elaziz, Dalia S; Alkady, Radwa; Lotfy, Sohilla; Opitz, Lennart; Galal, Nermeen M; Boutros, Jeannette A; Pachlopnik Schmid, Jana; Elmarsafy, Aisha MJournal of Allergy and Clinical Immunology
1. März 2019
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population
Meshaal, S S; El Hawary, R E; Abd Elaziz, D S; Eldash, A; Alkady, R; Lotfy, S; Mauracher, Andrea A; Opitz, Lennart; Pachlopnik Schmid, Jana; van der Burg, M; Chou, J; Galal, N M; Boutros, J A; Geha, R; Elmarsafy, A MClinical and Experimental Immunology
1. Februar 2019
Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes
Nüesch, Ursina; Mauracher, Andrea A; Opitz, Lennart; Volkmer, Benjamin; Michalak-Mićka, Katarzyna; Kamarashev, Jivko; Hartwig, Tom; Reichmann, Ernst; Becher, Burkhard; Vavassori, Stefano; Pachlopnik Schmid, JanaJournal of Allergy and Clinical Immunology
1. Februar 2019
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry
Maccari, Maria Elena; Abolhassani, Hassan; Aghamohammadi, Asghar; et al; Pachlopnik Schmid, Jana; Prader, Sereina; Reichenbach, Janine; et alFrontiers in Immunology
1. März 2018
Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes
Prader, Seraina; Felber, Matthias; Volkmer, Benjamin; Trück, Johannes; Schwieger-Briel, Agnes; Theiler, Martin; Weibel, Lisa; Hambleton, Sophie; Seipel, Katja; Vavassori, Stefano; Pachlopnik Schmid, JanaFrontiers in Immunology
1. Januar 2018
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, MichaelBMC Infectious Diseases
1. Januar 2018
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
Schepp, Johanna; Proietti, Michele; Frede, Natalie; Buchta, Mary; Hübscher, Katrin; Rojas Restrepo, Jessica; Goldacker, Sigune; Warnatz, Klaus; Pachlopnik Schmid, Jana; Duppenthaler, Andrea; Lougaris, Vassilios; Uriarte, Ignacio; Kelly, Susan; Hershfield, Michael; Grimbacher, BodoArthritis and Rheumatology
1. Januar 2017
Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome
Vavassori, Stefano; Galson, Jacob D; Trück, Johannes; van den Berg, Anke; Tamminga, Rienk Y J; Magerus-Chatinet, Aude; Pellé, Olivier; Camenisch Gross, Ulrike; Marques Maggio, Ewerton; Prader, Seraina; Opitz, Lennart; Nüesch, Ursina; Mauracher, Andrea A; Volkmer, Benjamin; Speer, Oliver; Suda, Luzia; Röthlisberger, Benno; Zimmermann, Dieter Robert; Müller, Rouven; Diepstra, Arjan; Visser, Lydia; Haralambieva, Eugenia; Neven, Benedicte; Rieux-Laucat, Frédéric; Pachlopnik Schmid, JanaBlood advances. In Practice
1. Januar 2017
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening§
Marquardt, L; Lacour, M; Hoernes, M; Opitz, L; Lecca, R; Volkmer, B; Reichenbach, J; Hohl, D; Ansari, M; Ozsahin, H; Güngör, T; Pachlopnik Schmid, JanaJournal of the European Academy of Dermatology and Venerology
1. Januar 2017
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno MArthritis Rheumatol
1. November 2016
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.
Ravelli A, Minoia F, Davì S, Horne A, Bovis F, Pistorio A, Aricò M, Avcin T, Behrens EM, De Benedetti F, Filipovic L, Grom AA, Henter JI, Ilowite NT, Jordan MB, Khubchandani R, Kitoh T, Lehmberg K, Lovell DJ, Miettunen P, Nichols KE, Ozen S, Pachlopnik Schmid J, Ramanan AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQArthritis Rheumatol
1. März 2016
Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis.
Ravelli A, Minoia F, Davì S, Horne A, Bovis F, Pistorio A, Aricò M, Avcin T, Behrens EM, De Benedetti F, Filipovic A, Grom AA, Henter JI, Ilowite NT, Jordan MB, Khubchandani R, Kitoh T, Lehmberg K, Lovell DJ, Miettunen P, Nichols KE, Ozen S, Pachlopnik Schmid J, Ramanan AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQRMD Open
1. Januar 2016