Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

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.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Federico FoundationUniv São Paulo, Inst Crianca, Fac Med, HC, BR-05403000 São Paulo, BrazilNIH, Dept Lab Med, Ctr Clin, Bethesda, MD 20814 USAFMUSP Ribeirao Preto, Ribeirao Preto, SP, BrazilUniv Estado Rio de Janeiro, Rio de Janeiro, RJ, BrazilUniv Estadual Campinas, Campinas, SP, BrazilUniv Fed Pernambuco, Recife, PE, BrazilUniv Fed Goias, Fac Med, Serv Reumatol, Goiania, Go, BrazilUniv Fed Rio de Janeiro, Disciplina Reumatol, Rio de Janeiro, RJ, BrazilFMUSP, Disciplina Reumatol, São Paulo, BrazilFMUSP, Inst Crianca, São Paulo, BrazilFMUSP, LIM 56, São Paulo, BrazilFMUSP, LIM 53, São Paulo, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilUniv Fed Rio de Janeiro, IPPMG, Rio de Janeiro, RJ, BrazilSanta Casa de Misericordia Belo Horizonte, Belo Horizonte, MG, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilFAPESP: 2008/58866-5FAPESP: 2009/12334-5CNPq: 300248/2008-3Web of Scienc