SAMAR FRESCHI DE BARROS

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Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina
LIM/19 - Laboratório de Histocompatibilidade e Imunidade Celular, Hospital das Clínicas, Faculdade de Medicina

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Assunto: Autoinflammatory diseases ×

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Agora exibindo 1 - 2 de 2
  • article 0 Citação(ões) na Scopus
    A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)
    (2023) MELO, Adriana; CARVALHO, Luciana Martins de; FERRIANI, Virginia Paes Leme; CAVALCANTI, Andre; APPENZELLER, Simone; OLIVEIRA, Valeria Rossato; NETO, Herberto Chong; ROSARIO, Nelson Augusto; POSWAR, Fabiano de Oliveira; GUIMARAES, Matheus Xavier; KOKRON, Cristina Maria; MAIA, Rayana Elias; SILVA, Guilherme Diogo; KELLER, Gabriel; FERREIRA, Mauricio Domingues; VASCONCELOS, Dewton Moraes; TOLEDO-BARROS, Myrthes Anna Maragna; BARROS, Samar Freschi; NETO, Nilton Salles Rosa; KRIEGER, Marta Helena; KALIL, Jorge; MENDONCA, Leonardo Oliveira
    IntroductionThe deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive fashion. Up to this moment there is no consensus for the treatment of DADA2 and anti-TNF is the therapy of choice for chronic management whereas bone marrow transplantation is considered for refractory or severe phenotypes. Data from Brazil is scarce and this multicentric study reports 18 patients with DADA2 from Brazil.Patients and methodsThis is a multicentric study proposed by the Center for Rare and Immunological Disorders of the Hospital 9 de Julho - DASA, Sao Paulo - Brazil. Patients of any age with a confirmed diagnosis of DADA2 were eligible for this project and data on clinical, laboratory, genetics and treatment were collected.ResultsEighteen patients from 10 different centers are reported here. All patients had disease onset at the pediatric age (median of 5 years) and most of them from the state of Sao Paulo. Vasculopathy with recurrent stroke was the most common phenotype but atypical phenotypes compatible with ALPS-like and Common Variable Immunodeficiency (CVID) was also found. All patients carried pathogenic mutations in the ADA2 gene. Acute management of vasculitis was not satisfactory with steroids in many patients and all those who used anti-TNF had favorable responses.ConclusionThe low number of patients diagnosed with DADA2 in Brazil reinforces the need for disease awareness for this condition. Moreover, the absence of guidelines for diagnosis and management is also necessary (t).
  • article 3 Citação(ões) na Scopus
    In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation
    (2022) MENDONCA, Leonardo Oliveira; TOLEDO-BARROS, Myrthes Anna Maragna; LEAL, Vinicius Nunes Cordeiro; ROA, Mariela Estefany Gislene Vera; CAMBUI, Raylane Adrielle Goncalves; TOLEDO, Eliana; BARROS, Samar Freschi; OLIVEIRA, Amanda Melato de; RIVITTI-MACHADO, Maria Cecilia; FRANCESCANTONIO, Isadora Carvalho Medeiros; GRUMACH, Anete Sevciovic; PENIDO, Norma de Oliveira; CASTRO, Fabio Fernandes Morato; KALIL, Jorge; PONTILLO, Alessandra
    Objective: To report our five-years experience on the use of NLRP3 inflammasome functional assays in the differential diagnosis of Brazilian patients with a clinical suspicion of CAPS. Patients and methods: The study included 9 patients belonging to 2 families (I, II) and 7 unrelated patients with a clinical suspicion of AID according to Eurofever/PRINTO classification, recruited between 2017 and 2022. The control group for the NLRP3 functional assay consisted of 10 healthy donors and for the CBA cytokines measurement of 19 healthy controls. Patients underwent clinical evaluation, genetic and functional analysis. Results: All members of the family I received the diagnosis of Muckle-Wells Syndrome (MWS), carried the NLRP3 Thr348Met variant and resulted positive for the functional assay. The 2 patients of the family II resulted negative for the mutational screening but positive for the functional assay compatible with a MWS clinical phenotype. In 2 unrelated patients with NLRP3 mutations, including a novel mutation (Gly309Val, Asp303His), a positive functional test confirmed the clinical diagnosis of NOMID. 3 unrelated MWS and 1 FCAS patients resulted negative to the genetic screening and positive for the functional test. One patient with a FCAS-like phenotype harbored the NLRP12 His304Tyr variant confirming the diagnosis of FCAS2. Conclusion: The NLRP3 inflammasome functional assay can assist the clinical diagnosis of CAPS even in patients with unknown genetic defects.