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Titolo:
Periodic fever (TRAPS) caused by mutations in the TNF alpha receptor 1 (TNFRSF1A) gene of three German patients
Autore:
Rosen-Wolff, A; Kreth, HW; Hofmann, S; Hohne, K; Heubner, G; Mobius, D; Zintl, F; Gahr, M; Roesler, J;
Indirizzi:
Univ Klinikum Carl Gustav Carus, Kinderklin, Lab Klin Forsch, D-01307 Dresden, Germany Univ Klinikum Carl Gustav Carus Dresden Germany D-01307 Dresden, Germany Univ Wurzburg, Kinderklin, D-8700 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-8700 nderklin, D-8700 Wurzburg, Germany Carl Thiem Klinikum, Cottbus, Germany Carl Thiem Klinikum Cottbus Germany rl Thiem Klinikum, Cottbus, Germany Univ Jena Klinikum, Klin Kinder & Jugendmed, Jena, Germany Univ Jena Klinikum Jena Germany Klin Kinder & Jugendmed, Jena, Germany
Titolo Testata:
EUROPEAN JOURNAL OF HAEMATOLOGY
fascicolo: 2, volume: 67, anno: 2001,
pagine: 105 - 109
SICI:
0902-4441(200108)67:2<105:PF(CBM>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL MEDITERRANEAN FEVER; AUTOINFLAMMATORY SYNDROMES; CLINICAL SPECTRUM; EXPRESSION; DISEASE; CLONING; SERIES;
Keywords:
TRAPS; periodic fever; symptoms; treatment; mutational hot spot; pregnancy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Rosen-Wolff, A Univ Klinikum Carl Gustav Carus, Kinderklin, Lab Klin Forsch, Hans GrundigStr 25, D-01307 Dresden, Germany Univ Klinikum Carl Gustav Carus Hans Grundig Str 25 Dresden Germany D-01307
Citazione:
A. Rosen-Wolff et al., "Periodic fever (TRAPS) caused by mutations in the TNF alpha receptor 1 (TNFRSF1A) gene of three German patients", EUR J HAEMA, 67(2), 2001, pp. 105-109

Abstract

TNF-receptor-associated periodic syndrome (TRAPS) is a recently recognizeddisorder characterized by prolonged attacks of high fever and severe localized inflammation. TRAPS is caused by dominant mutations in the 55 kDa TNF receptor gene (TNFRSF1A). We here describe three German TRAPS patients of two families with Cys30 --> Arg and Thr50 --> Met mutations, respectively. Both mutations have already been observed before; in other nonrelated families. The Thr50 --> Met amino acid exchange, caused by an ACG-ATG transition,has been reported in two other families of different ethnic background. The possibility that the ACG --> ATG sequence alteration is a mutational hot spot causing TRAPS is discussed. Furthermore, we describe and discuss the symptoms of our patients, possible inducers of febrile attacks, and treatments which the patients had received when their diagnoses were still unknown.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 05:59:27