Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/2177
Type: Artigo de periódico
Title: Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study
Author: Jesus, Adriana A.
Fujihira, Erika
Watase, Mariana
Terreri, Maria T.
Hilario, Maria O.
Carneiro-Sampaio, Magda
Len, Claudio A.
Oliveira, Sheila K.
Rodrigues, Marta C.
Pereira, Rosa M.
Bica, Blanca
Silva, Nilzio A.
Cavalcanti, Andre
Marini, Roberto
Sztajnbok, Flavio
Quintero, Maria V.
Ferriani, Virginia P.
Moraes-Vasconcelos, Dewton
Silva, Clovis A.
Oliveira, Joao B.
Abstract: To evaluate the prevalence of genetic defects in clinically suspected autoinflammatory syndromes (AIS) in a Brazilian multicenter study. The study included 102 patients with a clinical diagnosis of Cryopyrin Associated Periodic Syndromes (CAPS), TNF Receptor Associated Periodic Syndrome (TRAPS), Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD) and Pediatric Granulomatous Arthritis (PGA). One of the five AIS-related genes (NLRP3, TNFRSF1A, MEFV, MVK and NOD2) was evaluated in each patient by direct DNA sequencing, based on the most probable clinical suspect. Clinical diagnoses of the 102 patients were: CAPS (n = 28), TRAPS (n = 31), FMF (n = 17), MKD (n = 17) and PGA (n = 9). Of them, 27/102 (26 %) had a confirmed genetic diagnosis: 6/28 (21 %) CAPS patients, 7/31 (23 %) TRAPS, 3/17 (18 %) FMF, 3/17 (18 %) MKD and 8/9 (89 %) PGA. We have found that approximately one third of the Brazilian patients with a clinical suspicion of AIS have a confirmed genetic diagnosis.
Subject: Autoinflammatory syndromes
genetics
familial mediterranean fever
mevalonate kinase deficiency
TRAPS
NLRP3
cryopyrin
MVK
MEFV
TNFRSF1A
Editor: Springer
Rights: fechado
Identifier DOI: 10.1007/s10875-012-9688-x
Date Issue: 2012
Appears in Collections:FCM - Artigos e Outros Documentos

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