SAMAR FRESCHI DE BARROS

Índice h a partir de 2011
6
Projetos de Pesquisa
Unidades Organizacionais
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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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 0 Citação(ões) na Scopus
    Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo
    (2022) MENDONCA, Leonardo Oliveira; CHUSTER, Adriana Pitchon dos Reis; DORNA, Mayra Barros; BARROS, Samar Freschi; ALVES, Janaina Baptista; GONCALVES, Victor Lucas; YANG, Ariana Campos; KALIL, Jorge; TOLEDO-BARROS, Myrthes Anna Maragna; KOKRON, Cristina Maria
    Background: IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema. However many other clinical presentations lacking the triad above described have been reported what underpin the need of careful clinical suspicion, immunological evaluation and genetic sequencing. Case presentation: Here we report a case of a Brazilian boy with severe eczema as the first and only presentation requiring cyclosporin therapy. Progressive and cumulative symptoms of arthritis and enteropathy lead to the suspicion of an inborn error of immunity. Peripheral FOXP3 expression was normal (CD127-/CD4+/CD25+/FOXP3+-396 cells-63%) and a pathogenic mutation in FOXP3 gene (c.1150G > A; p.Ala384Thr), confirmed the diagnosis of IPEX syndrome. Conclusions: IPEX syndrome should be suspected in patients presenting with severe eczema associated or not with other autoimmune/hyper inflammatory diseases in life. Our study also reinforces that FOXP3 expression by flowcytometry seems not to be a good screening method, and genetic sequencing is mandatory even in those with high suspicion and normal peripheral FOXP3 expression.