Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Wojciech Garncarz"'
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 1-15 (2019)
CTLA-4 is critical for balancing protective immunity with self-tolerance. Here the authors identify homozygous DEF6 mutations in patients with severe autoimmunity, one of which received and responds to CTLA-4-Ig, and show that DEF6 is crucial for CTL
Externí odkaz:
https://doaj.org/article/2b28c1d1ae924d86a02c99db5aac2d80
Autor:
Tala Shahin, Dominik Aschenbrenner, Deniz Cagdas, Sevgi Köstel Bal, Cecilia Domínguez Conde, Wojciech Garncarz, David Medgyesi, Tobias Schwerd, Betül Karaatmaca, Pınar Gur Cetinkaya, Saliha Esenboga, Stephen R. F. Twigg, Andrew Cant, Andrew O. M. Wilkie, Ilhan Tezcan, Holm H. Uhlig, Kaan Boztug
Publikováno v:
Haematologica, Vol 104, Iss 3 (2019)
Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic
Externí odkaz:
https://doaj.org/article/993b7a64cd5a4ba09b8c642f3bc48b4d
Autor:
Nina K. Serwas, Jakob Huemer, Régis Dieckmann, Ester Mejstrikova, Wojciech Garncarz, Jiri Litzman, Birgit Hoeger, Ondrej Zapletal, Ales Janda, Keiryn L. Bennett, Renate Kain, Dontscho Kerjaschky, Kaan Boztug
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Specific granule deficiency (SGD) is a rare disorder characterized by abnormal neutrophils evidenced by reduced granules, absence of granule proteins, and atypical bilobed nuclei. Mutations in CCAAT/enhancer-binding protein-ε (CEBPE) are one molecul
Externí odkaz:
https://doaj.org/article/8187cf6d031441d6985970193b8a4647
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
Autor:
Patricia Baeza Capetillo, Natalia Velez-Tirado, Kaan Boztug, Sara Elva Espinosa-Padilla, Genny M Chaia Semerena, Tatjana Hirschmugl, Saul Oswaldo Lugo Reyes, Aristóteles Álvarez-Cardona, Enrique Lopez Valentín, Selma Scheffler-Mendoza, Christoph Klein, Wojciech Garncarz, Armando Partida-Gaytán, Jesús Aguirre Hernández, Marcos Alejandro Suárez Gutiérrez, Edgar Alejandro Medina-Torres, Marco Antonio Yamazaki-Nakashimada
Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern and cardiovascular and urogenital malformations caused by an alter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0213fa74f15334d9458a368d24974577
https://doi.org/10.21203/rs.3.rs-356870/v2
https://doi.org/10.21203/rs.3.rs-356870/v2
Autor:
Miroslav Hons, Winfried F. Pickl, Sol A. Ban, Johannes B. Huppa, Ozden Sanal, Fabienne McClanahan, Gerhard J. Zlabinger, Papiya Sinha, John G. Gribben, Elisabeth Salzer, Wojciech Garncarz, Kaan Boztug, Michael Sixt, Deniz Cagdas, Emily M. Mace, Loïc Dupré, Katharina L. Willmann, Ilhan Tezcan, Keiryn L. Bennett, René Platzer, Hsiang-Ting Hsu, Ivan Bilic, Pinaki P. Banerjee, Malini Mukherjee, Hannes Stockinger, Verena Supper, Özlem Yüce Petronczki, Laurène Pfajfer, Ulrich Jäger, Jordan S. Orange
Publikováno v:
Nature Immunology. 17:1352-1360
RASGRP1 is an important guanine nucleotide exchange factor and activator of the RAS-MAPK pathway following T cell antigen receptor (TCR) signaling. The consequences of RASGRP1 mutations in humans are unknown. In a patient with recurrent bacterial and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dce4086a382555498c09e51802d63377
https://doi.org/10.1038/ni.3575
https://doi.org/10.1038/ni.3575
Autor:
Funda Erol Cipe, Gonca Keskindemirci, Cigdem Aydogmus, Kubra Baskin, Wojciech Garncarz, Kaan Boztug
Publikováno v:
The Turkish Journal of Pediatrics. 62:326
Background Neutrophils are essential innate cells to fight bacterial and fungal pathogens. Jagunal homolog 1 (JAGN1) mutations were recently defined as rare genetic defects causing severe congenital neutropenia. JAGN1 participates in the secretory pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e645f942141793b97fe781609d8698cb
https://doi.org/10.24953/turkjped.2020.02.022
https://doi.org/10.24953/turkjped.2020.02.022
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
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
http://link.springer.com/article/10.1038/s41467-019-12454-5
Autor:
Ahmet Ozen, Tatjana Hirschmugl, Ana Krolo, Kaan Boztug, Elisabeth Salzer, Isil Barlan, Ayca Kiykim, Elif Karakoc-Aydiner, Wojciech Garncarz, Safa Baris, Ayse Deniz Yucelten, Ismail Ogulur
Publikováno v:
Journal of clinical immunology. 35(6)
Protein kinase C delta (PRKCD) has essential functions in controlling B-cell proliferation and apoptosis, development of B-cell tolerance and NK-cell cytolitic activity. Human PRKCD deficiency was recently identified to be causative for an autoimmune
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf46eb7f1e172cd4d44bf4301d94fa5e
https://pubmed.ncbi.nlm.nih.gov/26233237
https://pubmed.ncbi.nlm.nih.gov/26233237