Below are the most recent publications written about "Hereditary Autoinflammatory Diseases" by people in Profiles.
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Burgei J, Alsheimer KM, Lantry J, Hehn B. Mediastinal lymphadenopathy due to VEXAS syndrome. BMJ Case Rep. 2024 Aug 08; 17(8).
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Matsumoto H, Asano T, Tsuchida N, Maeda A, Yoshida S, Yokose K, Fujita Y, Temmoku J, Matsuoka N, Yashiro-Furuya M, Sato S, Irie K, Norikawa N, Yamamoto T, Endo M, Fukuchi K, Ohkawara H, Ikezoe T, Uchiyama Y, Kirino Y, Matsumoto N, Watanabe H, Migita K. Behçet's disease with a somatic UBA1 variant:Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome. Clin Immunol. 2022 05; 238:108996.
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Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Blau syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatr Rheumatol Online J. 2014; 12:33.
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Toplak N, Frenkel J, Ozen S, Lachmann HJ, Woo P, Kon?-Paut I, De Benedetti F, Neven B, Hofer M, Dolezalova P, K?mmerle-Deschner J, Touitou I, Hentgen V, Simon A, Girschick H, Rose C, Wouters C, Vesely R, Arostegui J, Stojanov S, Ozgodan H, Martini A, Ruperto N, Gattorno M. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis. 2012 Jul; 71(7):1177-82.
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Jéru I, Marlin S, Le Borgne G, Cochet E, Normand S, Duquesnoy P, Dastot-Le Moal F, Cuisset L, Hentgen V, Fernandes Alnemri T, Lecron JC, Dhote R, Grateau G, Alnemri ES, Amselem S. Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder. Arthritis Rheum. 2010 Apr; 62(4):1176-85.