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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 S

    Blood

    1. März 2024

    Fevers and ulcers in a newborn-Think genetics and act quickly
    Soomann M, Gilmour K, Güngör T, Pachlopnik Schmid J, Spyropoulou V, Trück J, Prader S

    Pediatr Allergy Immunol

    1. März 2024

    Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening
    Soomann M, Prader S, Pinto Monteiro A, Zeilhofer U, Hauri-Hohl M, Güngör T, Pachlopnik Schmid J, Trück J, Felber M

    Journal of Clinical Immunology

    1. Januar 2024

  • The hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control
    Planas R, Felber M, Vavassori S, Pachlopnik Schmid J

    Frontiers of Immunology

    1. April 2023

    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 C

    Journal 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 A

    Journal of Allergy and Clinical Immunology

    1. April 2023

    Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening.
    Soomann M, Prader S, Pachlopnik Schmid J, Güngör T, Trück J

    J Clin Immunol

    1. Januar 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 S

    Journal 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 C

    Cell Death & Disease

    1. Oktober 2022

    Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome
    Trachsel T, Prader S, Steindl K, Pachlopnik Schmid J.

    Frontiers in Immunology

    1. Oktober 2022

    Incidental splenomegaly in a teenager.
    Baghin V, Prader S, Sirin S, Pachlopnik Schmid J, Trück J

    Arch Dis Child Educ Pract Ed

    1. August 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, Jana

    Frontiers 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, Angelo

    Journal 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, Geraldine

    Journal 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 al

    Journal 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, A

    Clinical and Experimental Immunology

    1. März 2021

    Patterns of Immune Dysregulation in Primary Immunodeficiencies: A Systematic Review
    Mauracher AA, Gujer E, Bachmann LM, Güsewell S, Pachlopnik Schmid J.

    The Journal of Allergy and Clinical Immunology. In Practice.

    1. Februar 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, Daniel

    Diabetes

    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, Johannes

    Frontiers 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, Horst

    European 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, Janine

    Swiss 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, Tayfun

    Blood 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

    Febrile ulceronecrotic Mucha-Habermann disease mimicking Kawasaki disease
    Weins, Andreas Benedikt; Theiler, Martin; Bogatu, Bettina; Kerl, Karin; Pleimes, Marc; Pachlopnik Schmid, Jana; Weibel, Lisa

    JDDG - Journal der Deutschen Dermatologischen Gesellschaft

    1. Februar 2020

  • Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity
    Jägle, Sabine; Heeg, Maximilian; Grün, Sarah; et al; Mauracher, Andrea; Pachlopnik Schmid, Jana

    Clinical Immunology

    1. November 2019

    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, Jana

    Journal 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 M

    Journal 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 M

    Clinical 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, Jana

    Journal of Allergy and Clinical Immunology

    1. Februar 2019

  • Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects
    Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter; et al; Pachlopnik Schmid, Jana; Kolios, Antonios

    Journal of Allergy and Clinical Immunology

    1. Dezember 2018

    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 al

    Frontiers 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, Jana

    Frontiers 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, Michael

    BMC Infectious Diseases

    1. Januar 2018

    Classification, clinical manifestation and diagnosis of HLH
    Pachlopnik Schmid, Jana; Volkmer, Benjamin; Ehl, Stephan

    Histiocytic Disorders

    1. Januar 2018

    Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors
    Giannelou, Angeliki; et al; Prader, Seraina; Pachlopnik Schmid, Jana

    Annals of the Rheumatic Diseases

    1. Januar 2018

  • Causes of low neonatal T-cell receptor excision circles: A systematic review.
    Mauracher, Andrea A; Pagliarulo, Fabio; Faes, Livia; Vavassori, Stefano; Güngör, Tayfun; Bachmann, Lucas M; Pachlopnik Schmid, Jana

    The Journal of Allergy and Clinical Immunology: In Practice

    1. Oktober 2017

    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, Bodo

    Arthritis 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, Jana

    Blood 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, Jana

    Journal 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 M

    Arthritis 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 RQ

    Arthritis 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 RQ

    RMD Open

    1. Januar 2016

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