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Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.
Lougaris, Vassilios; Baronio, Manuela; Castagna, Andrea; Tessarin, Giulio; Rossi, Stefano; Gazzurelli, Luisa; Benvenuto, Alessio; Moratto, Daniele; Chiarini, Marcho; Cattalini, Marco; Facchetti, Mattia; Palumbo, Laura; Giliani, Silvia; Girelli, Maria Federica; Badolato, Raffaele; Bondioni, Maria Pia; Facchetti, Fabio; Meini, Antonella; Plebani, Alessandro.
Afiliação
  • Lougaris V; Paediatrics Clinic and Institute for 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.
  • Baronio M; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Castagna A; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Tessarin G; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Rossi S; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Gazzurelli L; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Benvenuto A; Paediatrics Clinic and Institute for 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.
  • Chiarini M; Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Cattalini M; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Facchetti M; Department of Molecular and Translational Medicine, Section of Pathology, University of Brescia, Brescia, Italy.
  • Palumbo L; Pediatrics Clinic, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Giliani S; Institute for Molecular Medicine A. Nocivelli, and Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Girelli MF; Pediatrics Clinic, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Badolato R; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Bondioni MP; Pediatric Radiology, University of Brescia, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Facchetti F; Department of Molecular and Translational Medicine, Section of Pathology, University of Brescia, Brescia, Italy.
  • Meini A; Pediatrics Clinic, ASST- Spedali Civili of Brescia, Brescia, Italy.
  • Plebani A; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Clin Immunol ; 219: 108543, 2020 10.
Article em En | MEDLINE | ID: mdl-32681977
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Linfo-Histiocitose Hemofagocítica / Síndrome de Ativação Macrofágica / Classe I de Fosfatidilinositol 3-Quinases / Doenças da Imunodeficiência Primária Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Linfo-Histiocitose Hemofagocítica / Síndrome de Ativação Macrofágica / Classe I de Fosfatidilinositol 3-Quinases / Doenças da Imunodeficiência Primária Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2020 Tipo de documento: Article