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  2. Chiang, Samuel C. C. [Author]; Wood, Stephanie M. [Author]; Tesi, Bianca [Author]; Akar, Himmet Haluk [Author]; Al–Herz, Waleed [Author]; Ammann, Sandra [Author]; Belen, Fatma Burcu [Author]; Caliskan, Umran [Author]; Kaya, Zühre [Author]; Lehmberg, Kai [Author]; Patiroglu, Turkan [Author]; Tokgoz, Huseyin [Author]; Ünüvar, Ayşegül [Author]; Introne, Wendy J. [Author]; Henter, Jan-Inge [Author]; Nordenskjöld, Magnus [Author]; Ljunggren, Hans-Gustaf [Author]; Meeths, Marie [Author]; Ehl, Stephan [Author]; Krzewski, Konrad [Author]; Bryceson, Yenan T. [Author]

    Differences in granule morphology yet equally impaired exocytosis among cytotoxic T cells and NK cells from Chediak–Higashi syndrome patients

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    Lausanne: Frontiers, 2017

    Published in: Frontiers in immunology ; 8 (2017), 00426

  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]; 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

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    London: Springer Science+Business Media, 2019

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

  4. 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

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    London: Springer Science+Business Media, 2019

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

  11. Macartney, Christine A.; Weitzman, Sheila; Wood, Stephanie M.; Bansal, Deepak; Steele, MacGregor; Meeths, Marie; Abdelhaleem, Mohamed; Bryceson, Yenan T.

    Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)

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    Wiley, 2011

    Published in: Pediatric Blood & Cancer

  13. Torralba‐Raga, Lamberto; Tesi, Bianca; Chiang, Samuel C. C.; Schlums, Heinrich; Nordenskjöld, Magnus; Horne, AnnaCarin; Henter, Jan‐Inge; Meeths, Marie; Abdelhaleem, Mohamed; Weitzman, Sheila; Bryceson, Yenan

    Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease

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    Wiley, 2020

    Published in: Pediatric Blood & Cancer

  14. Tesi, Bianca; Priftakis, Peter; Lindgren, Fredrik; Chiang, Samuel C. C.; Kartalis, Nikolaos; Löfstedt, Alexandra; Lörinc, Esther; Henter, Jan-Inge; Winiarski, Jacek; Bryceson, Yenan T.; Meeths, Marie

    Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation

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    Springer Science and Business Media LLC, 2016

    Published in: Journal of Clinical Immunology

  15. Borte, Stephan; Meeths, Marie; Liebscher, Ines; Krist, Kerstin; Nordenskjöld, Magnus; Hammarström, Lennart; von Döbeln, Ulrika; Henter, Jan-Inge; Bryceson, Yenan T.

    Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies

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    Elsevier BV, 2014

    Published in: Journal of Allergy and Clinical Immunology

  16. Hussein, Ayad Ahmed; Hamadah, Tuka; Qandeel, Monther; Sughayer, Maher; Amarin, Rula; Mansour, Asem; Chiang, Samuel C.; Al‐Zaben, Abdulhadi; Meeths, Marie; Bryceson, Yenan T.

    Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation

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    Wiley, 2014

    Published in: Pediatric Blood & Cancer

  17. Müller, Martha-Lena; Chiang, Samuel C. C.; Meeths, Marie; Tesi, Bianca; Entesarian, Miriam; Nilsson, Daniel; Wood, Stephanie M.; Nordenskjöld, Magnus; Henter, Jan-Inge; Naqvi, Ahmed; Bryceson, Yenan T.

    An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2

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    Frontiers Media SA, 2014

    Published in: Frontiers in Immunology

  18. Cichocki, Frank; Schlums, Heinrich; Li, Hongchuan; Stache, Vanessa; Holmes, Timothy; Lenvik, Todd R.; Chiang, Samuel C.C.; Miller, Jeffrey S.; Meeths, Marie; Anderson, Stephen K.; Bryceson, Yenan T.

    Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency

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    Rockefeller University Press, 2014

    Published in: Journal of Experimental Medicine

  20. Seidel, Markus G.; Böhm, Katrin; Dogu, Figen; Worth, Austen; Thrasher, Adrian; Florkin, Benoit; İkincioğulları, Aydan; Peters, Anke; Bakhtiar, Shahrzad; Meeths, Marie; Stepensky, Polina; Meyts, Isabelle; Sharapova, Svetlana O.; Gámez-Díaz, Laura; Hammarström, Lennart; Ehl, Stephan; Grimbacher, Bodo; Gennery, Andrew R.

    Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

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    Elsevier BV, 2018

    Published in: Journal of Allergy and Clinical Immunology