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

Autor: Nina K. Serwas, Birgit Hoeger, Rico C. Ardy, Sigrun V. Stulz, Zhenhua Sui, Nima Memaran, Marie Meeths, Ana Krolo, Özlem Yüce Petronczki, Laurène Pfajfer, Tie Z. 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 Bilic, Jens Thiel, Peter Priftakis, Pinaki P. Banerjee, Elisabeth Förster-Waldl, David Medgyesi, Wolf-Dietrich Huber, Jordan S. Orange, Eric Meffre, David M. Sansom, Yenan T. Bryceson, Amnon Altman, Kaan Boztug

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-2 (2019)

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Externí odkaz: https://doaj.org/article/2ad5e2b7ab8840e49f562084ad81cfe1

Efficacy of Moderately Dosed Etoposide in Macrophage Activation Syndrome–Hemophagocytic Lymphohistiocytosis

Autor: AnnaCarin Horne, Stefan Hagelberg, Stefan Berg, Tatiana von Bahr Greenwood, Maria Ekelund, Ulf Andersson, Yenan T. Bryceson, Jan-Inge Henter, Peter Erensjö, Samuel C. C. Chiang, Marie Meeths, Caroline Björklund

Publikováno v: The Journal of Rheumatology. 48:1596-1602

ObjectiveMacrophage activation syndrome (MAS) constitutes 1 subtype of the hyperinflammatory syndrome hemophagocytic lymphohistiocytosis (HLH), and the term MAS-HLH was recently proposed for HLH with underlying autoimmune/autoinflammatory conditions.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2f7586958bb867f2bee54dc7a82f295
https://doi.org/10.3899/jrheum.200941

Development of classical Hodgkin’s lymphoma in an adult with biallelic STXBP2 mutations

Autor: Maciej Machaczka, Monika Klimkowska, Samuel C.C. Chiang, Marie Meeths, Martha-Lena Müller, Britt Gustafsson, Jan-Inge Henter, Yenan T. Bryceson

Publikováno v: Haematologica, Vol 98, Iss 5 (2013)

Experimental model systems have delineated an important role for cytotoxic lymphocytes in the immunosurveillance of cancer. In humans, perforin-deficiency has been associated with occurrence of hematologic malignancies. Here, we describe an Epstein-B

Externí odkaz: https://doaj.org/article/90ae64125864449c996d3e06b82db564

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Autor: Bella Shadur, Andrew R. Gennery, Nurcicek Padem, Anna Mukhina, Polina Stepensky, Svetlana O. Sharapova, Sara Sebnem Kilic, Magdalena Avbelj Stefanija, Luis I. Gonzales-Granado, Isabelle Meyts, Jacques G. Rivière, Filomeen Haerynck, Joachim Zobel, Benoit Florkin, Laura Gamez, Vedat Uygun, Nicolette Moes, Neslihan Edeer Karaca, Lennart Hammarström, Anke M.J. Peters, Bodo Grimbacher, Sevgi Köstel Bal, Aydan Ikinciogullari, Zahra Chavoshzadeh, Joris M. van Montfrans, Sule Haskologlu, Hassan Abolhassani, Necil Kutukculer, Safa Baris, Yuliya Mareika, Juan Luis Santos Perez, Elif Karakoc-Aydiner, Asghar Aghamohammadi, Mehdi Adeli, Antonio Marzollo, Hermann J. Girschick, Sevgi Keles, Amer Khojah, Shahrzad Bakhtiar, Victoria Katharina Tesch, Anna Shcherbina, Antonios G.A. Kolios, Marie Meeths, Mikko Seppänen, Austen Worth, Marina Garcia-Prat, Figen Dogu, Arjan C. Lankester, Markus G. Seidel

Publikováno v: The journal of allergy and clinical immunology
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Journal of Allergy and Clinical Immunology, 145(5), 1452-1463. MOSBY-ELSEVIER

Background: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b609bdc323ed2eb41f327b418827ce5f
https://hdl.handle.net/10067/1695250151162165141

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

Autor: Elisangela Santos-Valente, Jordan S. Orange, Peter Priftakis, Anna Schrempf, Elisabeth Förster-Waldl, Salomé Glauzy, Jean Nicolas Schickel, Nina K. Serwas, David Medgyesi, Alan Kennedy, Renate Kain, Eric Meffre, Emily M. Mace, Özlem Yüce Petronczki, Nima Memaran, Ana Krolo, Ivan Bilic, Bettina Bidmon-Fliegenschnee, Jakob Huemer, Pinaki P. Banerjee, Iro Pierides, Sigrun V. Stulz, Tie Z. Hou, Zhenhua Sui, Elisabeth Salzer, Laurène Pfajfer, Marie Meeths, Neil Halliday, Wojciech Garncarz, Yenan T. Bryceson, Rico Chandra Ardy, Jens Thiel, Amnon Altman, Joanna I. Loizou, Malini Mukherjee, Birgit Hoeger, Artem Kalinichenko, Bianca Tesi, Kaan Boztug, Wolf Dietrich Huber, Winfried F. Pickl, David M. Sansom

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-2 (2019)
Nature Communications

Immune responses need to be controlled tightly to prevent autoimmune diseases, yet underlying molecular mechanisms remain partially understood. Here, we identify biallelic mutations in three patients from two unrelated families in differentially expr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8e7b61f6ca1c11036a0e08946e0c590
http://link.springer.com/article/10.1038/s41467-019-12454-5