Autoinflammatory syndromes: report on three cases

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dc.contributor.author Matos, Thais Cunha [UNIFESP]
dc.contributor.author Terreri, Maria Teresa Ramos Ascensão [UNIFESP]
dc.contributor.author Piotto, Daniela Gerent Petry [UNIFESP]
dc.contributor.author Barbosa, Cassia Maria Passarelli Lupoli [UNIFESP]
dc.contributor.author Len, Claudio Arnaldo [UNIFESP]
dc.contributor.author Hilário, Maria Odete Esteves [UNIFESP]
dc.date.accessioned 2015-06-14T13:41:08Z
dc.date.available 2015-06-14T13:41:08Z
dc.date.issued 2009-09-01
dc.identifier http://dx.doi.org/10.1590/S1516-31802009000500012
dc.identifier.citation MATOS, Thais Cunha et al . Autoinflammatory syndromes: report on three cases. Sao Paulo Med. J., São Paulo , v. 127, n. 5, p. 314-316, set. 2009
dc.identifier.issn 1516-3180
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/5230
dc.description.abstract CONTEXT: Autoinflammatory syndromes are diseases manifested by recurrent episodes of fever and inflammation in multiple organs. There is no production of autoantibodies, but interleukins play an important role and acute-phase reactants show abnormalities. Our aim was to report on three cases of autoinflammatory syndromes that are considered to be rare entities. CASE REPORTS: The authors describe the clinical features of three patients whose diagnosis were the following: tumor necrosis factor receptor-associated periodic syndrome (TRAPS), chronic infantile neurological cutaneous articular (CINCA) syndrome and familial Mediterranean fever (FMF). All of the patients presented fever, joint or bone involvement and increased acute phase reactants. The genetic analysis confirmed the diagnoses of two patients. The great diversity of manifestations and the difficulties in genetic analyses make the diagnosing of these diseases a challenge. en
dc.description.abstract CONTEXTO: As síndromes auto-inflamatórias são doenças que se manifestam por surtos recorrentes de febre e inflamação em diversos órgãos. Não ocorre a formação de auto-anticorpos, as interleucinas representam um papel importante e as provas de fase aguda estão alteradas. O nosso objetivo foi relatar três casos de síndromes auto-inflamatórias consideradas como entidades raras. RELATO DE CASOS: Os autores descrevem as características clínicas de três pacientes que tiveram os seguintes diagnósticos: síndrome periódica associada ao receptor do fator de necrose tumoral α (TRAPS), síndrome articular cutânea neurológica e infantil crônica (CINCA) e febre familiar do Mediterrâneo (FFM). Todos os pacientes tiveram em comum a febre, o comprometimento articular ou ósseo e o aumento de provas de fase aguda. O estudo genético confirmou o diagnóstico em dois pacientes. A grande variedade de manifestações e a dificuldade nos estudos genéticos tornam o diagnóstico destas doenças um desafio. pt
dc.format.extent 314-316
dc.language.iso eng
dc.publisher Associação Paulista de Medicina - APM
dc.relation.ispartof São Paulo Medical Journal
dc.rights Acesso aberto
dc.subject Relapsing fever en
dc.subject Familial mediterranean fever en
dc.subject Tumor necrosis factor-alpha en
dc.subject Child en
dc.subject NLRP3 protein, human [substance name] en
dc.subject Inflammation en
dc.subject Febre recorrente pt
dc.subject Febre familiar do mediterrâneo pt
dc.subject Fator de necrose tumoral alfa pt
dc.subject Criança pt
dc.subject Inflamação pt
dc.title Autoinflammatory syndromes: report on three cases en
dc.title.alternative Síndromes auto-inflamatórias: relato de três casos pt
dc.type Artigo
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Universidade Federal de São Paulo (UNIFESP) Department of Pediatrics Division of Pediatric Rheumatology
dc.description.affiliationUnifesp UNIFESP, Department of Pediatrics Division of Pediatric Rheumatology
dc.identifier.file S1516-31802009000500012.pdf
dc.identifier.scielo S1516-31802009000500012
dc.identifier.doi 10.1590/S1516-31802009000500012
dc.description.source SciELO
dc.identifier.wos WOS:000274726900012



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