Skip to contents

  1. Serwas, Nina K. [Author]; Huemer, Jakob [Author]; Dieckmann, Régis [Author]; Mejstrikova, Ester [Author]; Garncarz, Wojciech [Author]; Litzman, Jiri [Author]; Höger, Birgit [Author]; Zapletal, Ondrej [Author]; Janda, Ales [Author]; Bennett, Keiryn L. [Author]; Kain, Renate [Author]; Kerjaschky, Dontscho [Author]; Boztug, Kaan [Author]

    CEBPE-mutant specific granule deficiency correlates with aberrant granule organization and substantial proteome alterations in neutrophils

    Books
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Lausanne: Frontiers, 2018

    Published in: Frontiers in immunology ; 9 (2018), 00588

  2. Serwas, Nina K. [Author]; Höger, Birgit [Author]; Ardy, Rico C. [Author]; Stulz, Sigrun V. [Author]; Sui, Zhenhua [Author]; Memaran, Nima [Author]; Meeths, Marie [Author]; Krolo, Ana [Author]; Yüce Petronczki, Özlem [Author]; Pfajfer, Laurène [Author]; Hou, Tie Zheng [Author]; Halliday, Neil [Author]; Santos-Valente, Elisangela [Author]; Kalinichenko, Artem [Author]; Kennedy, Alan [Author]; Mace, Emily M. [Author]; Mukherjee, Malini [Author]; Tesi, Bianca [Author]; Schrempf, Anna [Author]; Loizou, Joanna I. [Author]; Kain, Renate [Author]; Bidmon-Fliegenschnee, Bettina [Author]; Schickel, Jean-Nicolas [Author]; Glauzy, Salomé [Author]; [...]

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

    Books
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    London: Springer Science+Business Media, 2019

    Published in: Nature communications ; 10, 1 (2019), 3106

  3. Serwas, Nina K. [Author]; Höger, Birgit [Author]; Ardy, Rico C. [Author]; Stulz, Sigrun V. [Author]; Sui, Zhenhua [Author]; Memaran, Nima [Author]; Meeths, Marie [Author]; Krolo, Ana [Author]; Yüce Petronczki, Özlem [Author]; Pfajfer, Laurène [Author]; Hou, Tie Zheng [Author]; Halliday, Neil [Author]; Santos-Valente, Elisangela [Author]; Kalinichenko, Artem [Author]; Kennedy, Alan [Author]; Mace, Emily M. [Author]; Mukherjee, Malini [Author]; Tesi, Bianca [Author]; Schrempf, Anna [Author]; Pickl, Winfried F. [Author]; Loizou, Joanna I. [Author]; Kain, Renate [Author]; Bidmon-Fliegenschnee, Bettina [Author]; Schickel, Jean-Nicolas [Author]; [...]

    Publisher correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

    Books
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    London: Springer Science+Business Media, 2019

    Published in: Nature communications ; 10, 1 (2019), 4555

  8. Serwas, Nina K.; Huemer, Jakob; Dieckmann, Régis; Mejstrikova, Ester; Garncarz, Wojciech; Litzman, Jiri; Hoeger, Birgit; Zapletal, Ondrej; Janda, Ales; Bennett, Keiryn L.; Kain, Renate; Kerjaschky, Dontscho; Boztug, Kaan

    CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Frontiers Media SA, 2018

    Published in: Frontiers in Immunology

  9. Kiykim, Ayca; Ogulur, Ismail; Baris, Safa; Salzer, Elisabeth; Karakoc-Aydiner, Elif; Ozen, Ahmet Oguzhan; Garncarz, Wojciech; Hirschmugl, Tatjana; Krolo, Ana; Yucelten, Ayse Deniz; Boztug, Kaan; Barlan, Isil B

    Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2015

    Published in: Journal of Clinical Immunology

  10. Ban, Sol A.; Salzer, Elisabeth; Eibl, Martha M.; Linder, Angela; Geier, Christoph B.; Santos-Valente, Elisangela; Garncarz, Wojciech; Lion, Thomas; Ott, Raphael; Seelbach, Christoph; Boztug, Kaan; Wolf, Hermann M.

    Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2014

    Published in: Journal of Clinical Immunology

  11. Velez‐Tirado, Natalia; Yamazaki‐Nakashimada, Marco Antonio; Lopez Valentín, Enrique; Partida‐Gaytan, Armando; Scheffler‐Mendoza, Selma C.; Chaia Semerena, Genny M.; Alvarez‐Cardona, Aristóteles; Suárez Gutiérrez, Marcos Alejandro; Medina Torres, Edgar Alejandro; Baeza Capetillo, Patricia; Hirschmugl, Tatjana; Garncarz, Wojciech; Espinosa‐Padilla, Sara Elva; Aguirre Hernández, Jesús; Klein, Christoph; Boztug, Kaan; Lugo Reyes, Saul O.

    Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Wiley, 2022

    Published in: Scandinavian Journal of Immunology

  12. Shahin, Tala; Aschenbrenner, Dominik; Cagdas, Deniz; Bal, Sevgi Köstel; Conde, Cecilia Domínguez; Garncarz, Wojciech; Medgyesi, David; Schwerd, Tobias; Karaatmaca, Betül; Cetinkaya, Pınar Gur; Esenboga, Saliha; Twigg, Stephen R. F.; Cant, Andrew; Wilkie, Andrew O. M.; Tezcan, Ilhan; Uhlig, Holm H.; Boztug, Kaan

    Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Ferrata Storti Foundation (Haematologica), 2019

    Published in: Haematologica

  13. Willmann, Katharina L.; Klaver, Stefanie; Doğu, Figen; Santos-Valente, Elisangela; Garncarz, Wojciech; Bilic, Ivan; Mace, Emily; Salzer, Elisabeth; Domínguez Conde, Cecilia; Sic, Heiko; Májek, Peter; Banerjee, Pinaki P.; Vladimer, Gregory I.; Haskoloğlu, Şule; Gökalp Bolkent, Musa; Küpesiz, Alphan; Condino-Neto, Antonio; Colinge, Jacques; Superti-Furga, Giulio; Pickl, Winfried F.; van Zelm, Menno C.; Eibel, Hermann; Orange, Jordan S.; Ikincioğulları, Aydan;

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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2014

    Published in: Nature Communications

  14. Salzer, Elisabeth; Santos-Valente, Elisangela; Klaver, Stefanie; Ban, Sol A.; Emminger, Wolfgang; Prengemann, Nina Kathrin; Garncarz, Wojciech; Müllauer, Leonhard; Kain, Renate; Boztug, Heidrun; Heitger, Andreas; Arbeiter, Klaus; Eitelberger, Franz; Seidel, Markus G.; Holter, Wolfgang; Pollak, Arnold; Pickl, Winfried F.; Förster-Waldl, Elisabeth; Boztug, Kaan

    B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    American Society of Hematology, 2013

    Published in: Blood

  15. Salzer, Elisabeth; Cagdas, Deniz; Hons, Miroslav; Mace, Emily M; Garncarz, Wojciech; Petronczki, Özlem Yüce; Platzer, René; Pfajfer, Laurène; Bilic, Ivan; Ban, Sol A; Willmann, Katharina L; Mukherjee, Malini; Supper, Verena; Hsu, Hsiang Ting; Banerjee, Pinaki P; Sinha, Papiya; McClanahan, Fabienne; Zlabinger, Gerhard J; Pickl, Winfried F; Gribben, John G; Stockinger, Hannes; Bennett, Keiryn L; Huppa, Johannes B; Dupré, Loïc; [...]

    RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2016

    Published in: Nature Immunology

  16. Boztug, Kaan; Järvinen, Päivi M; Salzer, Elisabeth; Racek, Tomas; Mönch, Sebastian; Garncarz, Wojciech; Gertz, E. Michael; Schäffer, Alejandro A.; Antonopoulos, Aristotelis; Haslam, Stuart; Ziesenitz, Lena; Puchalka, Jacek; Diestelhorst, Jana; Appaswamy, Giridharan; Lescoeur, Brigitte; Giambruno, Roberto; Bigenzahn, Johannes; Elling, Ulrich; Pfeifer, Dietmar; Welte, Karl; Brandes, Gudrun; Sherkat, Roya; Van der Werff Ten Bosch, Jutte; Rezaei, Nima; [...]

    Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    American Society of Hematology, 2013

    Published in: Blood

  17. Serwas, Nina K.; Hoeger, Birgit; Ardy, Rico C.; Stulz, Sigrun V.; Sui, Zhenhua; Memaran, Nima; Meeths, Marie; Krolo, Ana; Yüce Petronczki, Özlem; Pfajfer, Laurène; Hou, Tie Z.; Halliday, Neil; Santos-Valente, Elisangela; Kalinichenko, Artem; Kennedy, Alan; Mace, Emily M.; Mukherjee, Malini; Tesi, Bianca; Schrempf, Anna; Pickl, Winfried F.; Loizou, Joanna I.; Kain, Renate; Bidmon-Fliegenschnee, Bettina; Schickel, Jean-Nicolas; [...]

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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2019

    Published in: Nature Communications

  18. Serwas, Nina K.; Hoeger, Birgit; Ardy, Rico C.; Stulz, Sigrun V.; Sui, Zhenhua; Memaran, Nima; Meeths, Marie; Krolo, Ana; Petronczki, Özlem Yüce; Pfajfer, Laurène; Hou, Tie Z.; Halliday, Neil; Santos-Valente, Elisangela; Kalinichenko, Artem; Kennedy, Alan; Mace, Emily M.; Mukherjee, Malini; Tesi, Bianca; Schrempf, Anna; Pickl, Winfried F.; Loizou, Joanna I.; Kain, Renate; Bidmon-Fliegenschnee, Bettina; Schickel, Jean-Nicolas; [...]

    Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2019

    Published in: Nature Communications

  19. Boztug, Kaan; Järvinen, Päivi M; Salzer, Elisabeth; Racek, Tomas; Mönch, Sebastian; Garncarz, Wojciech; Gertz, E Michael; Schäffer, Alejandro A; Antonopoulos, Aristotelis; Haslam, Stuart M; Schieck, Lena; Puchałka, Jacek; Diestelhorst, Jana; Appaswamy, Giridharan; Lescoeur, Brigitte; Giambruno, Roberto; Bigenzahn, Johannes W; Elling, Ulrich; Pfeifer, Dietmar; Conde, Cecilia Domínguez; Albert, Michael H; Welte, Karl; Brandes, Gudrun; Sherkat, Roya; [...]

    JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2014

    Published in: Nature Genetics