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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Acknowledgments
This study was supported by Fundação de Amparo à Pesquisa do Estado de São Paulo – FAPESP (grants 2008/58866-5 and 2009/12334-5), Conselho Nacional de Desenvolvimento Científico e Tecnológico – CNPQ (grant 300248/2008-3 to CAS) and Federico Foundation Grant to CAS. We thank the following pediatric rheumatologists and pediatricians and their respective services for sample referral: Nadyesda D. Brandão (Universidade Federal de Santa Catarina), Ana Paula Vecchi (Hospital Materno-Infantil de Goiânia), Maria Custodia M. Ribeiro and Fabio Tadeu M. Oliveira (Universidade de Brasília), Erica N. Naka and Izaias P. Costa (Universidade Federal do Mato Grosso do Sul), Katia Lino (Universidade Federal Fluminense), Maria Virginia Andrade (Hospital das Clínicas da Faculdade de Medicina de Marília), Silvana B. Sacchetti (Irmandade da Santa Casa de Misericórdia de São Paulo), Simone Lotufo (Hospital Municipal Menino Jesus), Ana Julia P. Moraes (Universidade Federal do Pará), Tereza C Robazzi (Universidade Federal da Bahia), Claudia Saad-Magalhães (Universidade Estadual de São Paulo-Botucatu) and Mayra B. Dorna (Instituto da Criança da FMUSP). We also thank Paolo Zanotto (Laboratório de Evolução Molecular e Bioinformática, ICBII, USP, José Eduardo Krieger (Laboratório de Genética e Cardiologia Molecular, FMUSP), Claudio Panutti (Laboratório de Virologia, FMUSP), Silvia Figueiredo Costa (Laboatório de Bacteriologia, FMUSP) and Suzane Ono-Nita (Laboratório de Gastroenterologia Clínica e Experimental) for the use of equipments.
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Adriana A. Jesus, and Erika Fujihira, Clovis A. Silva and Joao B. Oliveira contributed equally to this work.
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Jesus, A.A., Fujihira, E., Watase, M. et al. Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study. J Clin Immunol 32, 922–932 (2012). https://doi.org/10.1007/s10875-012-9688-x
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DOI: https://doi.org/10.1007/s10875-012-9688-x