Sökresultat - Elisabeth Salzer

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  1. 1
    Protein Kinase C δ: a Gatekeeper of Immune Homeostasis

    Protein Kinase C δ: a Gatekeeper of Immune Homeostasis av Elisabeth Salzer, Elisangela Santos-Valente, Bärbel Keller, Klaus Warnatz, Kaan Boztuğ

    Publicerad 2016
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  2. 2
    Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia

    Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia av Nina K. Serwas, Deniz Çağdaş, Sol A. Ban, K. Bienemann, Elisabeth Salzer, İlhan Tezcan, Arndt Borkhardt, Özden Sanal, Kaan Boztuğ

    Publicerad 2014
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  3. 3
    Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

    Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R av Baran Erman, Ivan Bilić, Tatjana Hirschmugl, Elisabeth Salzer, Deniz Çağdaş, Saliha Esenboğa, Zühal Akçören, Özden Sanal, İlhan Tezcan, Kaan Boztuğ

    Publicerad 2015
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  4. 4
    Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27

    Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27 av Elisabeth Salzer, Svenja Daschkey, Sharon Choo, Michael Gombert, Elisangela Santos-Valente, Sebastian Ginzel, M. Schwendinger, O. A. Haas, G. Fritsch, Winfried F. Pickl, Elisabeth Förster‐Waldl, Arndt Borkhardt, Kaan Boztuğ, K. Bienemann, Markus G. Seidel

    Publicerad 2012
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  5. 5
    Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

    Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum av Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch‐Klupp, Jakob Rath, Matias Wagner, Tobias B. Haack, Tim M. Strom, Anne Schänzer, Manfred W. Kilimann, Ralf Schmidt, Klaus G. Schmetterer, Alexander Zimprich, Kaan Boztuğ, Andreas Hahn, Fritz Zimprich

    Publicerad 2017
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  6. 6
    B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ

    B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ av Elisabeth Salzer, Elisangela Santos-Valente, Stefanie Klaver, Sol A. Ban, Wolfgang Emminger, Nina Kathrin Prengemann, Wojciech Garncarz, Leonhard Müllauer, Renate Kain, Heidrun Boztug, Andreas Heitger, Klaus Arbeiter, Franz Eitelberger, Markus G. Seidel, Wolfgang Holter, Arnold Pollak, Winfried F. Pickl, Elisabeth Förster‐Waldl, Kaan Boztuğ

    Publicerad 2013
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  7. 7
    Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

    Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress av Cecilia Domínguez Conde, Özlem Yüce Petronczki, Safa Barış, Katharina Willmann, Enrico Girardi, Elisabeth Salzer, Stefan Weitzer, Rico Chandra Ardy, Ana Krolo, Hanna IJspeert, Ayça Kıykım, Elif Karakoç-Aydıner, Elisabeth Förster‐Waldl, Leo Kager, Winfried F. Pickl, Giulio Superti‐Furga, Javier Martı́nez, Joanna I. Loizou, Ahmet Özen, Mirjam van der Burg, Kaan Boztuğ

    Publicerad 2019
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  8. 8
    Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

    Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity av Katharina Willmann, Stefanie Klaver, Figen Doğu, Elisangela Santos-Valente, Wojciech Garncarz, Ivan Bilić, Emily M. Mace, Elisabeth Salzer, Cecilia Domínguez Conde, Heiko Sic, Peter Májek, Pinaki P. Banerjee, Gregory I. Vladimer, Şule Haskoloğlu, Musa Gökalp Bolkent, Alphan Küpesiz, Antônio Condino‐Neto, Jacques Colinge, Giulio Superti‐Furga, Winfried F. Pickl, Menno C. van Zelm, Hermann Eibel, Jordan S. Orange, Aydan Ikincioğulları, Kaan Boztuğ

    Publicerad 2014
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  9. 9
    The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity

    The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity av Elisabeth Salzer, Samaneh Zoghi, Máté G. Kiss, Frieda Kage, Christina Rashkova, Stephanie Stahnke, Matthias Haimel, René Platzer, Michael Caldera, Rico Chandra Ardy, Birgit Hoeger, Jana Block, Dávid Medgyesi, Celine Sin, Sepideh Shahkarami, Renate Kain, Vahid Ziaee, Peter Hammerl, Christoph Bock, Jörg Menche, Loı̈c Dupré, Johannes B. Huppa, Michael Sixt, Alexis J. Lomakin, Klemens Rottner, Christoph J. Binder, Theresia E. B. Stradal, Nima Rezaei, Kaan Boztuğ

    Publicerad 2020
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  10. 10
    RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics

    RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics av Elisabeth Salzer, Deniz Çağdaş, Miroslav Hons, Emily M. Mace, Wojciech Garncarz, Özlem Yüce Petronczki, René Platzer, Laurène Pfajfer, Ivan Bilić, Sol A. Ban, Katharina Willmann, Malini Mukherjee, Verena Supper, Hsiang Ting Hsu, Pinaki P. Banerjee, Papiya Sinha, Fabienne McClanahan, Gerhard J. Zlabinger, Winfried F. Pickl, John G. Gribben, Hannes Stockinger, Keiryn L. Bennett, Johannes B. Huppa, Loı̈c Dupré, Özden Sanal, Ulrich Jäger, Michael Sixt, İlhan Tezcan, Jordan S. Orange, Kaan Boztuğ

    Publicerad 2016
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  11. 11
    JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

    JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia av Kaan Boztuğ, Päivi M. Järvinen, Elisabeth Salzer, Tomáš Raček, Sebastian Mönch, Wojciech Garncarz, E. Michael Gertz, Alejandro A. Schäffer, Aristotelis Antonopoulos, Stuart M. Haslam, Lena Schieck, Jacek Puchałka, Jana Diestelhorst, Giridharan Appaswamy, Brigitte Lescoeur, Roberto Giambruno, Johannes W. Bigenzahn, Ulrich Elling, Dietmar Pfeifer, Cecilia Domínguez Conde, Michael H. Albert, Karl Welte, Gudrun Brandes, Roya Sherkat, Jutte van der Werff ten Bosch, Nima Rezaei, Amos Etzioni, Christine Bellanné‐Chantelot, Giulio Superti‐Furga, Josef Penninger, Keiryn L. Bennett, Julia von Blume, Anne Dell, Jean Donadieu, Christoph Klein

    Publicerad 2014
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  12. 12
    Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

    Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis av Nina K. Serwas, Birgit Hoeger, Rico Chandra Ardy, Sigrun V. Stulz, Zhenhua Sui, Nima Memaran, Marie Meeths, Ana Krolo, Özlem Yüce Petronczki, Laurène Pfajfer, Tie Zheng Hou, Neil Halliday, Elisangela Santos-Valente, Artem Kalinichenko, Alan Kennedy, Emily M. Mace, Malini Mukherjee, Bianca Tesi, Anna Schrempf, Winfried F. Pickl, Joanna I. Loizou, Renate Kain, Bettina Bidmon‐Fliegenschnee, Jean‐Nicolas Schickel, Salomé Glauzy, Jakob Huemer, Wojciech Garncarz, Elisabeth Salzer, Iro Pierides, Ivan Bilić, Jens Thiel, Peter Priftakis, Pinaki P. Banerjee, Elisabeth Förster‐Waldl, Dávid Medgyesi, Wolf‐Dietrich Huber, Jordan S. Orange, Eric Meffre, David M. Sansom, Yenan T. Bryceson, Amnon Altman, Kaan Boztuğ

    Publicerad 2019
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  13. 13
    Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

    Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency av Jana Block, Christina Rashkova, Irinka Castanon, Samaneh Zoghi, Jessica Platon, Rico Chandra Ardy, M. Fujiwara, Beatriz Chaves, Rouven Schoppmeyer, Caspar I. van der Made, Raúl Jiménez Heredia, Frederike L. Harms, Samin Alavi, Laia Alsina, Paula Sánchez Moreno, Rainiero Ávila Polo, Rocío Cabrera‐Pérez, Sevgi Köstel Bal, Laurène Pfajfer, Bernhard Ransmayr, Anna-Katharina Mautner, Ryohei Kondo, Anna Tinnacher, Michael Caldera, Michael Schuster, Cecilia Domínguez Conde, René Platzer, Elisabeth Salzer, Thomas Boyer, Han G. Brunner, Judith E. Nooitgedagt-Frons, E. Iglesias, Àngela Deyà‐Martínez, Marisol Camacho‐Lovillo, Jörg Menche, Christoph Bock, Johannes B. Huppa, Winfried F. Pickl, Martin Distel, Jeffrey A. Yoder, David Traver, Karin R. Engelhardt, Tobias Linden, Leo Kager, J. Thomas Hannich, Alexander Hoischen, Sophie Hambleton, Sabine Illsinger, Lydie Da Costa, Kerstin Kutsche, Zahra Chavoshzadeh, Jaap D. van Buul, Jordi Antón, Joan Calzada‐Hernández, Olaf Neth, Julien Viaud, Akihiko Nishikimi, Loı̈c Dupré, Kaan Boztuğ

    Publicerad 2023
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  14. 14
    Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

    Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency av Sujal Ghosh, Sevgi Köstel Bal, Emily S.J. Edwards, Bethany Pillay, Raúl Jiménez Heredia, Funda Çipe, Geetha Rao, Elisabeth Salzer, Samaneh Zoghi, Hassan Abolhassani, Tooba Momen, Emma Gostick, David A. Price, Yu Zhang, Andrew J. Oler, Claudia Gonzaga‐Jauregui, Baran Erman, Ayşe Metìn, İlhan İnci, Şule Haskoloğlu, Candan İslamoğlu, Kübra Baskın, Serdar Ceylaner, Ebru Yılmaz, Ekrem Ünal, Musa Karakükçü, Dagmar Berghuis, Theresa Cole, Aditya Gupta, Fabian Hauck, Hubert Kogler, Andy I. M. Hoepelman, Safa Barış, Elif Karakoç-Aydıner, Ahmet Özen, Leo Kager, Dirk Holzinger, Michael Paulussen, Renate Krüger, Roland Meisel, Prasad T. Oommen, Emma Morris, Bénédicte Neven, Austen Worth, Joris van Montfrans, Pieter L. A. Fraaij, Sharon Choo, Figen Doğu, E. Graham Davies, Siobhán O. Burns, Gregor Dückers, Ruy Perez Becker, Horst von Bernuth, Sylvain Latour, Maura Faraci, Marco Gattorno, Helen C. Su, Qiang Pan‐Hammarström, Lennart Hammarström, Michael J. Lenardo, S. Cindy, Tim Niehues, Asghar Aghamohammadi, Nima Rezaei, Aydan İkincioğulları, Stuart G. Tangye, Arjan C. Lankester, Kaan Boztuğ

    Publicerad 2020
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