Clinical and genetic evaluation of autoinflammatory hereditary syndromes: a multicentric Brazilian project

Abstract

The autoinflammatory syndromes are monogenic diseases caused by a dysregulation in the innate immune system and characterized by recurrent fever and systemic inflammatory symptoms. The following project will focus on the most prevalent autoinflammatory syndromes, which are: Familial Mediterranean Fever; Tumoral Necrosis Factor Receptor Associated Periodic Syndrome; Hyperimmunoglobulinemia D with periodic fever (Mevalonate Kinase Deficiency) (MKD); Cryopyrin Associated Periodic Syndromes (cryopyrinopathies) and Pediatric Granulomatous Arthritis (Blau syndrome/Early-onset sarcoidosis). Justificative and objectives: The virtual absence of Brazilian data regarding the prevalence of autoinflammatory syndromes and the urgent need to develop and establish local diagnostic tools are the main reasons driving this study. The objectives of this study are to evaluate the clinical, laboratory and genetic findings in patients with autoinflammatory syndromes referred to two Brazilian pediatric rheumatology services (Federal University of São Paulo and University of São Paulo). Patients and methods: Clinical and laboratorial evaluation will be performed in all patients who fulfill inclusion criteria and those who have an autoinflammatory syndrome diagnosis suspected will have genetic evaluation done. MEFV, TNFRSF1A, MVK, CIAS1 and NOD2 will be the genes evaluated through genomic DNA purification, allelic amplification by PCR (Polymerise Chain Reaction) and direct dideoxy sequencing. (AU)