Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers

Autor: David Egg, Charlotte Schwab, Annemarie Gabrysch, Peter D. Arkwright, Edmund Cheesman, Lisa Giulino-Roth, Olaf Neth, Scott Snapper, Satoshi Okada, Michel Moutschen, Philippe Delvenne, Ann-Christin Pecher, Daniel Wolff, Yae-Jean Kim, Suranjith Seneviratne, Kyoung-Mee Kim, Ji-Man Kang, Samar Ojaimi, Catriona McLean, Klaus Warnatz, Maximilian Seidl, Bodo Grimbacher

Publikováno v: Frontiers in Immunology, Vol 9 (2018)

Background: Cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) is a negative immune regulator on the surface of T cells. In humans, heterozygous germline mutations in CTLA4 can cause an immune dysregulation syndrome. The phenotype comprises a broad

Externí odkaz: https://doaj.org/article/27f24119d6174f2ba0ac828f55c874a1

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

Autor: Scott B. Snapper, Alla Bulashevska, Kjetil Taskén, Michael H. Albert, Virginia Patiño, Fabian Hauck, Stephan Ehl, Peter Olbrich, Charlotte Schwab, Craig D. Platt, Mike Recher, Hanns-Martin Lorenz, Janet Chou, Veronika Kanderova, Veronika Reiser, Tim Niehues, Akihiro Hoshino, Zdenek Sumnik, Tomáš Freiberger, Ulrich Salzer, Olaf Neth, Masatoshi Takagi, Gregor Dückers, Charlotte Cunningham-Rundles, Elizabeth M. McDermott, Raif S. Geha, Talal A. Chatila, Su Bunn, Monika Kurzai, Lisa Giulino-Roth, Gary Unglik, Jamanda A. Haddock, David M. Sansom, Bodo Grimbacher, Natalie Frede, Klaus Warnatz, Laia Alsina, Eva Fronkova, Olivier Elemento, Ansgar Schulz, Annette Schmitt-Graeff, Christina Price, Anna Sediva, Masao Kobayashi, Andre Franke, Florian Emmerich, Jana Pachlopnik Schmid, Satoshi Okada, Richard S. Blumberg, Alan M. Leichtner, Hugo Chapdelaine, Antonios G.A. Kolios, Desirée Schubert, Annemarie Gabrysch, Hirokazu Kanegane, Suranjith L. Seneviratne, Zeynep Yesim Kucuk, Ferran Casals, Alessandro Plebani, Lenka Petruzelkova, Andrew J. Cant, Thomas Giese, Carsten Speckmann, José Manuel Lucena, Seiichi Hayakawa, Jiri Litzman, Angela Deyà-Martínez, Mary Slatter, Maria Kanariou, Kathleen E. Sullivan, Christian Klemann, Maximilian Seidl, Daniel Wolff, Sebastian Zeissig, Vassilios Lougaris, Ingunn Dybedal, Kohsuke Imai, Sophie Hambleton, Frank L. van de Veerdonk, Peter D. Arkwright, Michel Moutschen

Publikováno v: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Allergy and Clinical Immunology, 142, 6, pp. 1932-1946
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Allergy and Clinical Immunology, 142, 1932-1946

Item does not contain fulltext BACKGROUND: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects. OBJECTIVE: We sought to ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bd670d617f3198cb3102d3b682d6e59
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14351

Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry.

Autor: Rojas-Restrepo, Jessica, Sindram, Elena, Zenke, Simon, Haberstroh, Hanna, Mitsuiki, Noriko, Gabrysch, Annemarie, Huebscher, Katrin, Posadas-Cantera, Sara, Krausz, Máté, Kobbe, Robin, Rohr, Jan C., Grimbacher, Bodo, Gámez-Díaz, Laura

Publikováno v: Journal of Clinical Immunology; Nov2023, Vol. 43 Issue 8, p2076-2089, 14p

What did we learn from CTLA‐4 insufficiency on the human immune system?

Autor: Mitsuiki, Noriko¹, Schwab, Charlotte¹, Grimbacher, Bodo¹ bodo.grimbacher@uniklinik-freiburg.de

Publikováno v: Immunological Reviews. Jan2019, Vol. 287 Issue 1, p33-49. 17p.

Researchers from Albert Ludwig University of Freiburg Report New Studies and Findings in the Area of Genomics and Genetics (Therapeutic Options for Ctla-4 Insufficiency).

Publikováno v: Stem Cell Week; 3/2/2023, p2170-2170, 1p