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Complete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS).
Tessarin, Giulio; Mazza, Cinzia; Baronio, Manuela; Gazzurelli, Luisa; Rossi, Stefano; Moratto, Daniele; Badolato, Raffaele; Rensing-Ehl, Anne; Ehl, Stephan; Warnatz, Klaus; Rosanelli, Carlo; Morello, Enrico; Plebani, Alessandro; Lougaris, Vassilios.
Afiliação
  • Tessarin G; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Mazza C; Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy.
  • Baronio M; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Gazzurelli L; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Rossi S; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Moratto D; Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Badolato R; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Rensing-Ehl A; Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Freiburg, Germany.
  • Ehl S; Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Freiburg, Germany.
  • Warnatz K; Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Freiburg, Germany.
  • Rosanelli C; Hematology and Bone Marrow Transplantation Unit, Alto Adige Hospital, Bolzano, Italy.
  • Morello E; Bone Marrow Transplant Unit, ASST-Spedali Civili Brescia, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
  • Plebani A; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Lougaris V; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy. Electronic address: vlougarisbs@yahoo.com.
Clin Immunol ; 228: 108757, 2021 07.
Article em En | MEDLINE | ID: mdl-33992756
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Receptor fas / Síndrome Linfoproliferativa Autoimune / Homozigoto Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Receptor fas / Síndrome Linfoproliferativa Autoimune / Homozigoto Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália