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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

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Author(s):
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Jesus, Adriana A. [1] ; Fujihira, Erika [2, 3] ; Watase, Mariana [2] ; Terreri, Maria T. [4] ; Hilario, Maria O. [4] ; Carneiro-Sampaio, Magda [1] ; Len, Claudio A. [4] ; Oliveira, Sheila K. [5] ; Rodrigues, Marta C. [5] ; Pereira, Rosa M. [6] ; Bica, Blanca [7] ; Silva, Nilzio A. [8] ; Cavalcanti, Andre [9] ; Marini, Roberto [10] ; Sztajnbok, Flavio [11] ; Quintero, Maria V. [12] ; Ferriani, Virginia P. [13] ; Moraes-Vasconcelos, Dewton [2] ; Silva, Clovis A. [14] ; Oliveira, Joao B. [15]
Total Authors: 20
Affiliation:
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[1] FMUSP, Inst Crianca, Sao Paulo - Brazil
[2] FMUSP, LIM 56, Sao Paulo - Brazil
[3] FMUSP, LIM 53, Sao Paulo - Brazil
[4] Univ Fed Sao Paulo, Sao Paulo - Brazil
[5] Univ Fed Rio de Janeiro, IPPMG, Rio de Janeiro, RJ - Brazil
[6] FMUSP, Disciplina Reumatol, Sao Paulo - Brazil
[7] Univ Fed Rio de Janeiro, Disciplina Reumatol, Rio de Janeiro, RJ - Brazil
[8] Univ Fed Goias, Fac Med, Serv Reumatol, Goiania, Go - Brazil
[9] Univ Fed Pernambuco, Recife, PE - Brazil
[10] Univ Estadual Campinas, Campinas, SP - Brazil
[11] Univ Estado Rio De Janeiro, Rio De Janeiro, RJ - Brazil
[12] Santa Casa de Misericordia Belo Horizonte, Belo Horizonte, MG - Brazil
[13] FMUSP Ribeirao Preto, Ribeirao Preto, SP - Brazil
[14] Univ Sao Paulo, Inst Crianca, Fac Med, HC, BR-05403000 Sao Paulo - Brazil
[15] NIH, Dept Lab Med, Ctr Clin, Bethesda, MD 20814 - USA
Total Affiliations: 15
Document type: Journal article
Source: JOURNAL OF CLINICAL IMMUNOLOGY; v. 32, n. 5, p. 922-932, OCT 2012.
Web of Science Citations: 12
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. (AU)

FAPESP's process: 08/58866-5 - Clinical and genetic evaluation of autoinflammatory hereditary syndromes: a multicentric Brazilian project
Grantee:Clovis Artur Almeida da Silva
Support type: Regular Research Grants