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Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype.
Chiriaco, Maria; De Matteis, Arianna; Cifaldi, Cristina; Di Matteo, Gigliola; Rivalta, Beatrice; Passarelli, Chiara; Perrone, Chiara; Novelli, Antonio; De Benedetti, Fabrizio; Insalaco, Antonella; Palma, Paolo; Finocchi, Andrea.
Afiliación
  • Chiriaco M; Department of Systems Medicine, University of Rome Tor Verata, Italy.
  • De Matteis A; s, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cifaldi C; Academic Department of Pediatrics, Unit of Immune and Infectious Diseases Research Unit of Primary Immunodeficiencies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Di Matteo G; Department of Systems Medicine, University of Rome Tor Verata, Italy; Academic Department of Pediatrics, Unit of Immune and Infectious Diseases Research Unit of Primary Immunodeficiencies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Rivalta B; Department of Systems Medicine, University of Rome Tor Verata, Italy; Academic Department of Pediatrics, Unit of Immune and Infectious Diseases Research Unit of Primary Immunodeficiencies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Passarelli C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Perrone C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • De Benedetti F; s, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Insalaco A; s, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Palma P; Department of Systems Medicine, University of Rome Tor Verata, Italy; Academic Department of Pediatrics, Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Finocchi A; Department of Systems Medicine, University of Rome Tor Verata, Italy; Academic Department of Pediatrics, Unit of Immune and Infectious Diseases Research Unit of Primary Immunodeficiencies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: andrea.finocchi@uniroma2.it.
Clin Immunol ; 251: 109316, 2023 06.
Article en En | MEDLINE | ID: mdl-37055004

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad Granulomatosa Crónica Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad Granulomatosa Crónica Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Italia