Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

Author Jesus, Adriana A. Google Scholar
Fujihira, Erika Google Scholar
Watase, Mariana Google Scholar
Terreri, Maria T. Autor UNIFESP Google Scholar
Hilário, Maria Odete Esteves Autor UNIFESP Google Scholar
Carneiro-Sampaio, Magda Google Scholar
Len, Claudio Arnaldo Autor UNIFESP Google Scholar
Oliveira, Sheila K. Google Scholar
Rodrigues, Marta C. Google Scholar
Pereira, Rosa M. Google Scholar
Bica, Blanca Google Scholar
Silva, Nilzio A. Google Scholar
Cavalcanti, Andre Google Scholar
Marini, Roberto Google Scholar
Sztajnbok, Flavio Google Scholar
Quintero, Maria V. Google Scholar
Ferriani, Virginia P. Google Scholar
Moraes-Vasconcelos, Dewton Google Scholar
Silva, Clovis A. Google Scholar
Oliveira, Joao B. Google Scholar
Institution Universidade de São Paulo (USP)
NIH
Universidade do Estado do Rio de Janeiro (UERJ)
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de Pernambuco (UFPE)
Universidade Federal de Goiás (UFG)
Universidade Federal do Rio de Janeiro (UFRJ)
Universidade Federal de São Paulo (UNIFESP)
Santa Casa de Misericordia Belo Horizonte
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.
Keywords Autoinflammatory syndromes
genetics
familial mediterranean fever
mevalonate kinase deficiency
TRAPS
NLRP3
cryopyrin
MVK
MEFV
TNFRSF1A
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Federico Foundation
Grant number FAPESP: 2008/58866-5
FAPESP: 2009/12334-5
CNPq: 300248/2008-3
Date 2012-10-01
Published in Journal of Clinical Immunology. New York: Springer/plenum Publishers, v. 32, n. 5, p. 922-932, 2012.
ISSN 0271-9142 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 922-932
Origin http://dx.doi.org/10.1007/s10875-012-9688-x
Access rights Closed access
Type Article
Web of Science ID WOS:000308828500003
URI http://repositorio.unifesp.br/handle/11600/35350

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