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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 5/2012

01-10-2012

Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

Authors: Adriana A. Jesus, Erika Fujihira, Mariana Watase, Maria T. Terreri, Maria O. Hilario, Magda Carneiro-Sampaio, Claudio A. Len, Sheila K. Oliveira, Marta C. Rodrigues, Rosa M. Pereira, Blanca Bica, Nilzio A. Silva, Andre Cavalcanti, Roberto Marini, Flavio Sztajnbok, Maria V. Quintero, Virginia P. Ferriani, Dewton Moraes-Vasconcelos, Clovis A. Silva, Joao B. Oliveira

Published in: Journal of Clinical Immunology | Issue 5/2012

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Abstract

Objective

To evaluate the prevalence of genetic defects in clinically suspected autoinflammatory syndromes (AIS) in a Brazilian multicenter study.

Methods

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.

Results

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.

Conclusion

We have found that approximately one third of the Brazilian patients with a clinical suspicion of AIS have a confirmed genetic diagnosis.
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Metadata
Title
Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study
Authors
Adriana A. Jesus
Erika Fujihira
Mariana Watase
Maria T. Terreri
Maria O. Hilario
Magda Carneiro-Sampaio
Claudio A. Len
Sheila K. Oliveira
Marta C. Rodrigues
Rosa M. Pereira
Blanca Bica
Nilzio A. Silva
Andre Cavalcanti
Roberto Marini
Flavio Sztajnbok
Maria V. Quintero
Virginia P. Ferriani
Dewton Moraes-Vasconcelos
Clovis A. Silva
Joao B. Oliveira
Publication date
01-10-2012
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 5/2012
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-012-9688-x

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