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Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.
Scarselli, Alessia; Di Cesare, Silvia; Di Matteo, Gigliola; De Matteis, Arianna; Ariganello, Paola; Romiti, Maria Luisa; Cascioli, Simona; De Vito, Rita; Bertaina, Alice; Locatelli, Franco; Gaspar, H Bobby; Aiuti, Alessandro; Rossi, Paolo; Gilmour, Kimberly; Cancrini, Caterina.
Afiliación
  • Scarselli A; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: alessia.scarselli@gmail.com.
  • Di Cesare S; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
  • Di Matteo G; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
  • De Matteis A; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
  • Ariganello P; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
  • Romiti ML; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
  • Cascioli S; Immunology and Pharmacotherapy Area, Bambino Gesù Children's Hospital, Rome, Italy.
  • De Vito R; Department of Pathology, Bambino Gesù Children's Hospital, Rome, Italy.
  • Bertaina A; Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, Rome, Italy.
  • Locatelli F; Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, Rome, Italy.
  • Gaspar HB; Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, London, United Kingdom.
  • Aiuti A; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy; San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Scientific Institute HS Raffaele, Milan, Italy.
  • Rossi P; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.
  • Gilmour K; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Cancrini C; University Department of Pediatrics, DPUO, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: cancrini@med.uniroma2.it.
J Allergy Clin Immunol ; 137(3): 948-51.e5, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26545580
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Inmunodeficiencia Combinada Grave / Janus Quinasa 3 / Granuloma / Mutación Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: J Allergy Clin Immunol Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Inmunodeficiencia Combinada Grave / Janus Quinasa 3 / Granuloma / Mutación Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: J Allergy Clin Immunol Año: 2016 Tipo del documento: Article