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Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.
Saettini, F; Fazio, G; Corti, P; Quadri, M; Bugarin, C; Gaipa, G; Penco, F; Moratto, D; Chiarini, M; Baronio, M; Gazzurelli, L; Imberti, L; Paghera, S; Giliani, S; Cazzaniga, G; Plebani, A; Badolato, R; Lougaris, V; Gattorno, M; Biondi, A.
Afiliación
  • Saettini F; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy. Electronic address: f.saettini@gmail.com.
  • Fazio G; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
  • Corti P; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
  • Quadri M; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
  • Bugarin C; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
  • Gaipa G; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
  • Penco F; Center for Autoinflammatory disease and Immunodeficiencies, IRCCS G. Gaslini, Genova, Italy.
  • Moratto D; Flow cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Chiarini M; Flow cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Baronio M; Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, 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. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Imberti L; Centro di Ricerca Emato-oncologica AIL (CREA), ASST Spedali Civili, Brescia, Italy.
  • Paghera S; Centro di Ricerca Emato-oncologica AIL (CREA), ASST Spedali Civili, Brescia, Italy.
  • Giliani S; Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Cazzaniga G; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy; Department of Medicine and Surgery, University of Milan Bicocca, Monza, Italy.
  • Plebani A; Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Badolato R; Pediatrics Clinic and Institute of Molecular Medicine A. Novicelli, 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. Novicelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Gattorno M; Center for Autoinflammatory disease and Immunodeficiencies, IRCCS G. Gaslini, Genova, Italy.
  • Biondi A; Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy; Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
Clin Immunol ; 218: 108525, 2020 09.
Article en En | MEDLINE | ID: mdl-32659374
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Texto completo: 1 Colección: 01-internacional Asunto principal: Linfocitos / Adenosina Desaminasa / Péptidos y Proteínas de Señalización Intercelular / Síndromes de Inmunodeficiencia Límite: Child / Humans / Male Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Linfocitos / Adenosina Desaminasa / Péptidos y Proteínas de Señalización Intercelular / Síndromes de Inmunodeficiencia Límite: Child / Humans / Male Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2020 Tipo del documento: Article