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Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome.
Soares, Diogo C; Dantas, Anelisa G; Matta, Marina C; Pastorino, Antonio C; Melaragno, Maria Isabel; Kulikowski, Leslie; Montenegro, Marilia; Kim, Chong A; Carneiro-Sampaio, Magda; Torres, Leuridan C.
  • Soares DC; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address: dsoares@usp.br.
  • Dantas AG; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
  • Matta MC; Translational Research Laboratory, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, PE, Brazil.
  • Pastorino AC; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
  • Kulikowski L; Department of Pathology, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Montenegro M; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Kim CA; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Carneiro-Sampaio M; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Torres LC; Translational Research Laboratory, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, PE, Brazil.
Clin Immunol ; 220: 108590, 2020 11.
Article en En | MEDLINE | ID: mdl-32920211
ABSTRACT
22q11.2 deletion syndrome (22q11.2DS) has a heterogeneous presentation that includes multiple congenital anomalies and immunodeficiency, one of the most striking features. Usually, it is characterized by T cell lymphopenia, B cell dysfunction and autoimmunity. Here, we describe an unusual case of 22q11.2DS in a patient with lymphoproliferative disorder, polyautoimmunity and hypogammaglobulinemia.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Agammaglobulinemia / Síndrome de Deleción 22q11 / Trastornos Linfoproliferativos Límite: Adolescent / Female / Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Agammaglobulinemia / Síndrome de Deleción 22q11 / Trastornos Linfoproliferativos Límite: Adolescent / Female / Humans Idioma: En Año: 2020 Tipo del documento: Article