Exome sequencing reveals gain-of-function mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients

Autor: Marcela Moncada-Vélez, Lucía Victoria Erazo-Borrás, Jesús Armando Álvarez-lvarez, Carlos Andrés Arango, Miyuki Tsumura, Satoshi Okada, Sara Daniela Osorio, Lorena Castro, Natalia González, Catalina Arango, Julio César Orrego, Lina Riaño, Juan Fernando Alzate, Felipe Cabarcas, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco

Publikováno v: Revista Alergia México, Vol 65 suppl 1, Pp 114-115 (2018)

Background: The transcription factor STAT1 plays a critical role in the immune response against mycobacterial, viral and fungal infections. Different mutations in STAT1 result in diverse clinical phenotypes: AR complete/partial biallelic mutations ar

Externí odkaz: https://doaj.org/article/15503ab3fb4b465a85afe9b41d45fb07

The expansion of human T-bet(high)CD21(low) B cells is T cell dependent

Autor: Horst von Bernuth, Bella Shadur, Klaus Warnatz, Jing-Ya Ding, Uwe Kölsch, Claudia M. Trujillo-Vargas, Petra Kaiser-Labusch, Ana Garcia Garcia, Cheng-Lung Ku, Hermann Eibel, Melanie Boerries, Polina Stepensky, Marta Rizzi, Natalie Frede, Stephan Ehl, Claudia Bossen, Sergio D. Rosenzweig, Laia Alsina, Peter Tobias Felixberger, Baerbel Keller, Roland Elling, Geoffroy Andrieux, Kimberly Gilmour, Satoshi Okada, Anne Rensing-Ehl, Marjolein Wentink, Ulrich Salzer, Carsten Speckmann, Cindy S. Ma, Alexandra Nieters, Paul Gray, Heiko Becker, Tadej Avcin, Vladimir Benes, Bodo Grimbacher, Florian Gothe, Gulbu Uzel, Susanne Usadel, Hye Sun Kuehn, Julia Vasconcelos, Gašper Markelj, Mirjam van der Burg, Jean-Laurent Casanova, Claire Fieschi, José Luis Franco, Lucía Victoria Erazo-Borrás, Susanne Unger, Alexandru Vlagea, Ina Hainmann, Ina Harder, Stuart G. Tangye, Elizabeth Ralph, Kathryn Payne, Reinhard E. Voll, Jonathan J. M. Landry, Valentina Strohmeier, Jens Thiel, Danielle T. Avery, Margarida Guedes, Sophie Hambleton, Nils Venhoff, Manfred Fliegauf

Publikováno v: Science immunology, 6(64):eabh0891. American Association for the Advancement of Science
Science Immunology, 6(64). AMER ASSOC ADVANCEMENT SCIENCE

Accumulation of human CD21low B cells in peripheral blood is a hallmark of chronic activation of the adaptive immune system in certain infections and autoimmune disorders. The molecular pathways underpinning the development, function, and fate of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eee83a6a43d89de2cd85bf7df750c036
https://hdl.handle.net/1887/3264161