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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 (2019). MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes. The Journal of Allergy and Clinical Immunology: In Practice, 7(3):856-863.

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; Pachlopnik Schmid, Jana (2019). Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population. Clinical and Experimental Immunology, 195(2):202-212.

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 (2019). Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes. Journal of Allergy and Clinical Immunology, 143(1):292-304.e8.

Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter; et al; Pachlopnik Schmid, Jana; Kolios, Antonios G A (2018). Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. Journal of Allergy and Clinical Immunology, 142(6):1932-1946.

Simonis, Alexander; Fux, Michaela; Nair, Gayathri; Mueller, Nicolas J; Haralambieva, Eugenia; Pabst, Thomas; Pachlopnik Schmid, Jana; Schmidt, Adrian; Schanz, Urs; Manz, Markus G; Müller, Antonia M S (2018). Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency-a case report and comprehensive review of the literature. Annals of Hematology, 97(10):1961-1973.

Maccari, Maria Elena; Abolhassani, Hassan; Aghamohammadi, Asghar; et al; Pachlopnik Schmid, Jana; Prader, Sereina; Reichenbach, Janine; et al (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. Frontiers in Immunology, 9:1-8.

Giannelou, Angeliki; et al; Prader, Seraina; Pachlopnik Schmid, Jana (2018). Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. Annals of the Rheumatic Diseases, 77(4):612-619.

Lewandowska, Dagmara W; Capaul, Riccarda; Prader, Seraina; Zagordi, Osvaldo; Geissberger, Fabienne-Desirée; Kügler, Martin; Knorr, Marcus; Berger, Christoph; Güngor, Tayfun; Reichenbach, Janine; Shah, Cyril; Böni, Jürg; Zbinden, Andrea; Trkola, Alexandra; Pachlopnik Schmid, Jana; Huber, Michael (2018). Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report. BMC Infectious Diseases, 18:33.

Pachlopnik Schmid, Jana; Volkmer, Benjamin; Ehl, Stephan (2018). Classification, clinical manifestation and diagnosis of HLH. In: Oussama, Abla; Janka, Gritta. Histiocytic Disorders. Springer: Springer, 173-187.

Prader, Seraina; Felber, Matthias; Volkmer, Benjamin; Trück, Johannes; Schwieger-Briel, Agnes; Theiler, Martin; Weibel, Lisa; Hambleton, Sophie; Seipel, Katja; Vavassori, Stefano; Pachlopnik Schmid, Jana (2018). Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes. Frontiers in Immunology, 9:2766.

Mauracher, Andrea A; Pagliarulo, Fabio; Faes, Livia; Vavassori, Stefano; Güngör, Tayfun; Bachmann, Lucas M; Pachlopnik Schmid, Jana (2017). Causes of low neonatal T-cell receptor excision circles: A systematic review. The Journal of Allergy and Clinical Immunology: In Practice, 5(5):1457-1460.e22.

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 (2017). Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. Blood advances, 1(15):1101-1106.

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 (2017). Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. Arthritis and Rheumatology, 69(8):1689-1700.

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 (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. Journal of the European Academy of Dermatology and Venerology, 31(3):e147-e148.

Ravelli, Angelo; Minoia, Francesca; Davì, Sergio; et al; Pachlopnik Schmid, Jana (2016). 2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis. Annals of the Rheumatic Diseases, 75(3):481-489.

Ravelli, Angelo; Minoia, Francesca; Davì, Sergio; et al; Pachlopnik Schmid, Jana (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. Arthritis and Rheumatology, 68(3):566-576.

Ravelli, Angelo; Minoia, Francesca; Davì, Sergio; et al; Pachlopnik Schmid, Jana (2016). Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. RMD Open, 2:e000161.

ter Haar, Nienke M; Jeyaratnam, Jerold; Lachmann, Helen J; et al; Pachlopnik Schmid, Jana (2016). The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry. Arthritis and Rheumatology, 68(11):2795-2805.

Bode, Sebastian F; Ammann, Sandra; Al-Herz, Waleed; Bataneant, Mihaela; Dvorak, Christopher C; Gehring, Stephan; Gennery, Andrew; Gilmour, Kimberly C; Gonzalez-Granado, Luis I; Groß-Wieltsch, Ute; Ifversen, Marianne; Lingman-Framme, Jenny; Matthes-Martin, Susanne; Mesters, Rolf; Meyts, Isabelle; van Montfrans, Joris M; Pachlopnik Schmid, Jana; et al (2015). The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. Haematologica, 100(7):978-988.

Lemoine, Roxane; Pachlopnik Schmid, Jana; Farin, Henner F; Bigorgne, Amélie; Debré, Marianne; Sepulveda, Fernando; Héritier, Sébastien; Lemale, Julie; Talbotec, Cécile; Rieux-Laucat, Frédéric; Ruemmele, Frank; Morali, Alain; Cathebras, Pascal; Nitschke, Patrick; Bole-Feysot, Christine; Blanche, Stéphane; Brousse, Nicole; Picard, Capucine; Clevers, Hans; Fischer, Alain; de Saint Basile, Geneviève (2014). Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. Journal of Allergy and Clinical Immunology, 134(6):1354-1364.e6.

Pachlopnik Schmid, Jana; Güngör, Tayfun; Seger, Reinhard (2014). Modern management of primary T-cell immunodeficiencies. Pediatric Allergy and Immunology, 25(4):300-313.

Hoernes, M; Pachlopnik Schmid, Jana; Schmid, J (2014). Angeborene Immundefekte: Welche Warnsignale sollte man kennen? Hausarzt Praxis, (9):46-48.

Sepulveda, Fernando E; Debeurme, Franck; Ménasché, Gaël; Kurowska, Mathieu; Côte, Marjorie; Pachlopnik Schmid, Jana; Fischer, Alain; de Saint Basile, Geneviève (2013). Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11. Blood, 121(4):595-603.

Pachlopnik Schmid, Jana. Anti-Gamma-Interferon Therapie bei genetischen Hämophagozytose-Syndromen. 2012, University of Zurich, Faculty of Medicine.

Nehme, Nadine T; Pachlopnik Schmid, Jana; Debeurme, Franck; André-Schmutz, Isabelle; Lim, Annick; Nitschke, Patrick; Rieux-Laucat, Frédéric; Lutz, Patrick; Picard, Capucine; Mahlaoui, Nizar; Fischer, Alain; de Saint Basile, Geneviève (2012). MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood, 119(15):3458-3468.

Pachlopnik Schmid, Jana; Lemoine, Roxane; Nehme, Nadine; Cormier-Daire, Valéry; Revy, Patrick; Debeurme, Franck; Debré, Marianne; Nitschke, Patrick; Bole-Feysot, Christine; Legeai-Mallet, Laurence; Lim, Annick; de Villartay, Jean-Pierre; Picard, Capucine; Durandy, Anne; Fischer, Alain; de Saint Basile, Geneviève (2012). Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). Journal of Experimental Medicine, 209(13):2323-2330.

Pachlopnik Schmid, Jana; Canioni, D; Moshous, D; et al (2011). Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood, 117(5):1522-1529.

Malisiewicz, Bartosz; Murer, Carla; Pachlopnik Schmid, Jana; French, Lars E; Schmid-Grendelmeier, Peter; Navarini, Alexander A (2011). Eosinophilia during Psoriasis treatment with TNF antagonists. Dermatology, 223(4):311-315.

Pachlopnik Schmid, Jana (2011). Hämophagozytose-Syndrome. Paediatrica, 22(4):13-16.

Pachlopnik Schmid, Jana (2011). Syndromes hémophagocytaires. Paediatrica (édition française), 22(4):13-16.

Booth, C; Gilmour, K C; Veys, P; et al; Pachlopnik Schmid, Jana (2011). X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood, 117(1):53-62.

Al-Idrissi, E; ElGhazali, G; Alzahrani, M; Ménasché, G; Pachlopnik Schmid, Jana; Geneviève de Saint, B (2010). Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. Journal of Pediatric Hematology/Oncology, 32(6):494-496.

Pachlopnik Schmid, Jana; de Saint Basile, G (2010). Inherited Hemophagocytic Lymphohistiocytosis (HLH). Klinische Pädiatrie, 222(6):345-350.

Pachlopnik Schmid, Jana; Schmid, J P; Côte, M; Ménager, M M; Burgess, A; Nehme, N; Ménasché, G; Fischer, A; de Saint Basile, G (2010). Inherited defects in lymphocyte cytotoxic activity. Immunological Reviews, 235(1):10-23.

Pachlopnik Schmid, Jana; Moshous, D; Boddaert, N; Neven, B; Dal Cortivo, L; Tardieu, M; Cavazzana-Calvo, M; Blanche, S; de Saint Basile, G; Fischer, A (2009). Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. Blood, 114(1):211-218.

Pachlopnik Schmid, Jana; Ho, Chen-H; Chrétien, Fabrice; Lefebvre, Juliette M; Pivert, Gérard; Kosco-Vilbois, Marie; Ferlin, Walter; Geissmann, Frédéric; Fischer, Alain; de Saint Basile, Geneviève (2009). Neutralization of IFNγ defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice. EMBO Molecular Medicine, 1(2):112-124.

Pachlopnik Schmid, Jana; Ho, Chen-Hsuan; Diana, Julien; Pivert, Gérard; Lehuen, Agnès; Geissmann, Frédéric; Fischer, Alain; de Saint Basile, Geneviève (2008). A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). European Journal of Immunology, 38(11):3219-3225.

This list was generated on Tue Sep 24 04:19:32 2019 CEST.