ADRIANA PITCHON DOS REIS CHUSTER

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Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/60 - Laboratório de Imunologia Clínica e Alergia, Hospital das Clínicas, Faculdade de Medicina

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Agora exibindo 1 - 3 de 3
  • conferenceObject
    Severe Ocular Allergy In Brazilian Children And Adolescents
    (2022) PITCHON, Raquel; PASCOAL, Clara; SOUZA, Jo Ao Pedro; MARTINS, Leandra; CARVALHO, Luciana; LINS, Renata; MELO, Luisa; PITCHON, Adriana
  • conferenceObject
    Description of COVID-19 infection in 92 patients with primary or secondary immunodeficiency followed at the Immunodeficiency Outpatient Clinic of a tertiary hospital
    (2023) FRANCO, Guacira; MENECHINO, Natalia; LOPES, Larissa Nathalia; PITCHON, Adriana; LIMA, Fabiana; MARINHO, Ana Karolina; GRECCO, Octavio; TOLEDO-BARROS, Myrthes; KALIL, Jorge; KOKRON, Cristina
  • 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.