Zobrazeno 1 - 10
of 31
pro vyhledávání: '"CTLA4 Haploinsufficiency"'
Autor:
Lauren V. Collen, Carlos Andres Salgado, Bin Bao, Erin Janssen, Dascha Weir, Jeffrey Goldsmith, Alan Leichtner, Nasim Sabery Khavari, Yael Gernez, Scott B. Snapper
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Primary immunodeficiency may present with treatment-refractory enteropathy. We present two patients with celiac/celiac-like disease diagnosed in early childhood and refractory to the gluten-free diet. One patient had features of multi-system autoimmu
Externí odkaz:
https://doaj.org/article/45bd3438714c488d8cc705c26a877a71
Autor:
Toshio Kitawaki, Masakazu Fujimoto, Hepei Yuan, Hironori Haga, Akifumi Takaori-Kondo, Momoko Nishikori, Yasuyuki Otsuka, Masahiro Hirata, Hirokazu Kanegane, Chiyoko Ueda, Takahiro Yasumi
Publikováno v:
Journal of Clinical and Experimental Hematopathology. 62(1):52-57
Cytotoxic T-lymphocyte-associated antigen 4 (CTLA4) is a coinhibitory receptor that plays an essential role in maintaining immune system homeostasis by suppressing T-cell activation. We report a sporadic case of CTLA4 haploinsufficiency in a patient
Publikováno v:
Journal of Clinical Immunology
Grammatikos, A, Johnston, S, Rice, C M & Gompels, M 2021, ' A family with a novel CTLA4 haploinsufficiency mutation and neurological symptoms ', Journal of Clinical Immunology, vol. 41, no. 6, pp. 1411-1416 . https://doi.org/10.1007/s10875-021-01027-1
Grammatikos, A, Johnston, S, Rice, C M & Gompels, M 2021, ' A family with a novel CTLA4 haploinsufficiency mutation and neurological symptoms ', Journal of Clinical Immunology, vol. 41, no. 6, pp. 1411-1416 . https://doi.org/10.1007/s10875-021-01027-1
CTLA4 haploinsufficiency is a rare autosomal dominant immune dysregulation disorder first described in 2014 [1, 2]. Patients with this disorder exhibit reduced expression of CTLA4, an inhibitory receptor that is found on activated and regulatory T ly
Publikováno v:
Pediatric Hematology and Oncology. 38:658-662
Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) is an immune checkpoint, which downregulates T cell activation and T regulatory cell function. CTLA4 haploinsufficiency (CTLA4 HI) leads to T cel...
Autor:
Alexandra Laberko, E.V. Raykina, G.N. Tereshenko, V.I. Burlakov, A.A. Roppelt, E.V. Deripapa, D.V. Bogdanova, Yu.A. Rodina, I.N. Abramova, Immunology named after Dmitry Rogachev, Moscow, Russia, A.Yu. Shcherbina, D.V. Yukhacheva, Anna Mukhina, D.S. Abramov, A.L. Khoreva, O.A. Shvets, Dmitry Pershin, M.Yu. Alexenko, A. M. Kieva, V.A. Vedmedskia, A.V. Pshonkin, G.G. Solopova
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 100:22-30
CTLA4 deficiency is a primary immunodeficiency state (PIDS) caused by monoallelic mutations in the gene of the same name, and belongs to the group of immunodeficiencies with immune dysregulation. This work analyzes the results of 11 patients with CTL
Autor:
Ichiro Kobayashi, Michitaka Kohashi, Kazumoto Iijima, Akihiro Hoshino, Namiko Hoshi, Haruka Miyazaki, Haruka Takenaka, Yuna Ku, Noriyuki Nishimura, Keisuke Jimbo, Kohsuke Imai, Tsubasa Okano, Nobuyuki Yamamoto, Eri Tokunaga, Suguru Uemura, Hirokazu Kanegane, Makoto Ooi, Yuzo Kodama
Publikováno v:
Intestinal Research, Vol 20, Iss 1, Pp 144-149 (2022)
Autoimmune enteropathy (AIE) is a rare disease, characterized by intractable diarrhea, villous atrophy of the small intestine, and the presence of circulating anti-enterocyte autoantibodies. Immune dysregulation, polyendocrinopathy, enteropathy, X-li
Akademický článek
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Autor:
Philipp Peters, Christoph Walz, Eberhard Lurz, Tobias Schwerd, Michael H. Albert, Daniel Kotlarz, Martin Riester, Mohammad Samer Hajji, Anna-Lisa Lanz, Julia Ley-Zaporozhan, Christoph Klein, Meino Rohlfs, Fabian Hauck
Publikováno v:
Clinical immunology (Orlando, Fla.). 229
CTLA4-haploinsufficiency is a complex disease of immune dysregulation presenting with a broad spectrum of clinical manifestations. CTLA4-Fc fusion proteins such as abatacept have been described to alleviate immune dysregulation in several adult cases
Akademický článek
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Autor:
Mark N. Polizzotto, Stuart G. Tangye, Edwin Kirk, Andrew Parker, Pei Dai, Lucinda J. Berglund, Brian S. Gloss, Eric Wegman, Jin Yan Yap, Vickie Marshall, Marcel Batten, Circa, Wendell Miley, Min Qiu, Tri Giang Phan, Roger Garsia, Peter Hsu, Elissa K. Deenick, Fenfen Cai, Romin Roshan, Cindy S. Ma, Denise Whitby, Kathy H C Wu
Publikováno v:
J Clin Immunol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab97adacd0abc2020f5457bd2d876bf
https://europepmc.org/articles/PMC8996434/
https://europepmc.org/articles/PMC8996434/