Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Fabian, Hauck"'
Autor:
Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Purpose The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the context of rare diseases (RDs
Externí odkaz:
https://doaj.org/article/ef5f9b76b7484569ab9e82d3e5536374
Autor:
Leire Solis, Samya Van Coillie, James R. Bonham, Fabian Hauck, Lennart Hammarström, Frank J. T. Staal, Bruce Lim, Martine Pergent, Johan Prévot
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 30 (2024)
This article presents the report of the session on “Newborn Screening for Primary Immunodeficiencies—Now What?” organised during the International Primary Immunodeficiency Congress (IPIC) held in November 2023. This clinical conference was orga
Externí odkaz:
https://doaj.org/article/fa56b81f5cb84ed99bb72cf9a5e005c1
Autor:
Sven Vanselow, Leif Hanitsch, Fabian Hauck, Julia Körholz, Maria-Elena Maccari, Andrea Meinhardt, Georgios Sogkas, Catharina Schuetz, Bodo Grimbacher
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionThe diagnosis and treatment of inborn errors of immunity (IEI) is a major challenge as the individual conditions are rare and often characterized by a variety of symptoms, which are often non disease-specific. Ideally, patients are treate
Externí odkaz:
https://doaj.org/article/f7e2a8b318584d25b79f569e684fb0cd
Autor:
Maryam Ghalandary, Yue Li, Thomas Fröhlich, Thomas Magg, Yanshan Liu, Meino Rohlfs, Sebastian Hollizeck, Raffaele Conca, Tobias Schwerd, Holm H. Uhlig, Philip Bufler, Sibylle Koletzko, Aleixo M. Muise, Scott B. Snapper, Fabian Hauck, Christoph Klein, Daniel Kotlarz
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract NOD2 polymorphisms may affect sensing of the bacterial muramyl dipeptide (MDP) and trigger perturbed inflammatory responses. Genetic screening of a patient with immunodeficiency and enteropathy revealed a rare homozygous missense mutation in
Externí odkaz:
https://doaj.org/article/dc2f306c826c406ba1811dcfaa3f2007
Autor:
Julian Kolorz, Salih Demir, Adrian Gottschlich, Iris Beirith, Matthias Ilmer, Daniel Lüthy, Christoph Walz, Mario M. Dorostkar, Thomas Magg, Fabian Hauck, Dietrich von Schweinitz, Sebastian Kobold, Roland Kappler, Michael Berger
Publikováno v:
Current Oncology, Vol 29, Iss 1, Pp 94-110 (2021)
Rhabdoid tumors (RT) are among the most aggressive tumors in early childhood. Overall survival remains poor, and treatment only effectively occurs at the cost of high toxicity and late adverse effects. It has been reported that the neurokinin-1 recep
Externí odkaz:
https://doaj.org/article/b4d76b70588949f19417df65d47f2b16
Autor:
Daniela Choukair, Fabian Hauck, Markus Bettendorf, Heiko Krude, Christoph Klein, Tobias Bäumer, Reinhard Berner, Min Ae Lee-Kirsch, Corinna Grasemann, Peter Burgard, Georg F. Hoffmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, whole exome and whole
Externí odkaz:
https://doaj.org/article/87d0b039802740118b8a8dc67a58c094
Autor:
Ludmila Perelygina, Raeesa Faisthalab, Emily Abernathy, Min-hsin Chen, LiJuan Hao, Lionel Bercovitch, Diana K. Bayer, Lenora M. Noroski, Michael T. Lam, Maria Pia Cicalese, Waleed Al-Herz, Arti Nanda, Joud Hajjar, Koen Vanden Driessche, Shari Schroven, Julie Leysen, Misha Rosenbach, Philipp Peters, Johannes Raedler, Michael H. Albert, Roshini S. Abraham, Hemalatha G. Rangarjan, David Buchbinder, Lisa Kobrynski, Anne Pham-Huy, Julie Dhossche, Charlotte Cunningham Rundles, Anna K. Meyer, Amy Theos, T. Prescott Atkinson, Amy Musiek, Mehdi Adeli, Ute Derichs, Christoph Walz, Renate Krüger, Horst von Bernuth, Christoph Klein, Joseph Icenogle, Fabian Hauck, Kathleen E. Sullivan
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Rubella virus (RuV) has recently been found in association with granulomatous inflammation of the skin and several internal organs in patients with inborn errors of immunity (IEI). The cellular tropism and molecular mechanisms of RuV persistence and
Externí odkaz:
https://doaj.org/article/42a46da9868e480f8c8f79db28a8fb27
Autor:
Toni Hospach, Fabian Glowatzki, Friederike Blankenburg, Dennis Conzelmann, Christian Stirnkorb, Chris Sandra Müllerschön, Peter von den Driesch, Lisa Maria Köhler, Meino Rohlfs, Christoph Klein, Fabian Hauck
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 17, Iss 1, Pp 1-9 (2019)
Abstract Background Deficiency of interleukin-36 receptor antagonist (DITRA) is a life threatening monogenic autoinflammatory disease caused by loss of function mutations in the IL36RN gene. Affected patients develop recurrent episodes of generalized
Externí odkaz:
https://doaj.org/article/948c134cbb354724b103b11b221b00c3
Autor:
Thomas Wimmer, Raphael Mattes, Hans-Joachim Stemmler, Fabian Hauck, Hendrik Schulze-Koops, Stephanie-Susanne Stecher, Michael Starck, Clemens-Martin Wendtner, Peter Bojko, Marcus Hentrich, Katharina E. Nickel, Katharina S. Götze, Florian Bassermann, Michael von Bergwelt-Baildon, Karsten Spiekermann
Publikováno v:
Blood Advances. 7:832-844
Hemophagocytic lymphohistiocytosis (HLH) is a rare but often fatal hyperinflammatory syndrome caused by an inborn or acquired error of immunity. In adults, the underlying immunodeficiency generally arises alongside severe infections, malignancies, au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6307a79516b9e1c9839bb9b95466637a
https://doi.org/10.1182/bloodadvances.2022007953
https://doi.org/10.1182/bloodadvances.2022007953
Autor:
Michael H. Albert, Tiarlan Sirait, Dirk-Jan Eikema, Katerina Bakunina, Claudia Wehr, Felipe Suarez, Maria Laura Fox, Nizar Mahlaoui, Andrew R. Gennery, Arjan C. Lankester, Rita Beier, Maria Ester Bernardo, Venetia Bigley, Caroline A. Lindemans, Siobhan O. Burns, Ben Carpenter, Jaroslaw Dybko, Tayfun Güngör, Fabian Hauck, Su Han Lum, Dmitry Balashov, Roland Meisel, Despina Moshous, Ansgar Schulz, Carsten Speckmann, Mary A. Slatter, Brigitte Strahm, Duygu Uckan-Cetinkaya, Isabelle Meyts, Tanja C. Vallée, Robert Wynn, Bénédicte Neven, Emma C. Morris, Alessandro Aiuti, Alexei Maschan, Mahmoud Aljurf, Tobias Gedde-Dahl, Gunhan Gurman, Victoria Bordon, Gergely Kriván, Franco Locatelli, Fulvio Porta, David Valcárcel, Yves Beguin, Maura Faraci, Nicolaus Kröger, Aleksandr Kulagin, Peter J. Shaw, Joan Hendrik Veelken, Cristina Diaz de Heredia, Franca Fagioli, Matthias Felber, Bernd Gruhn, Wolfgang Holter, Claudia Rössig, Petr Sedlacek, Jane Apperley, Mouhab Ayas, Ivana Bodova, Goda Choi, J.J. Cornelissen, Anne Sirvent, Anjum Khan, Alphan Kupesiz, Stig Lenhoff, Hakan Ozdogu, Nicolas von der Weid, Montserrat Rovira, Rik Schots, Donald C. Vinh
Publikováno v:
Blood. 140:1635-1649
Allogeneic hematopoietic stem cell transplantation (HSCT) is the gold standard curative therapy for infants and children with many inborn errors of immunity (IEI), but adolescents and adults with IEI are rarely referred for transplant. Lack of publis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8134ee0ffbc2da88fe54670c0b6c8bbe
https://doi.org/10.1182/blood.2022015506
https://doi.org/10.1182/blood.2022015506