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Cifaldi, Cristina; Serafinelli, Jessica; Petricone, Davide; Brigida, Immacolata; Di Cesare, Silvia; Di Matteo, Gigliola; Chiriaco, Maria; De Vito, Rita; Palumbo, Giuseppe; Rossi, Paolo; Palma, Paolo; Cancrini, Caterina; Aiuti, Alessandro; Finocchi, Andrea

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

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  • Medientyp: E-Artikel
  • Titel: Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia
  • Beteiligte: Cifaldi, Cristina; Serafinelli, Jessica; Petricone, Davide; Brigida, Immacolata; Di Cesare, Silvia; Di Matteo, Gigliola; Chiriaco, Maria; De Vito, Rita; Palumbo, Giuseppe; Rossi, Paolo; Palma, Paolo; Cancrini, Caterina; Aiuti, Alessandro; Finocchi, Andrea
  • Erschienen: Ovid Technologies (Wolters Kluwer Health), 2019
  • Erschienen in: Journal of Pediatric Hematology/Oncology
  • Sprache: Englisch
  • DOI: 10.1097/mph.0000000000001256
  • ISSN: 1077-4114
  • Schlagwörter: Oncology ; Hematology ; Pediatrics, Perinatology and Child Health
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:sec> <jats:title>Background:</jats:title> <jats:p>Jagunal homolog 1 (JAGN1) gene was identified as a novel responsible for severe congenital neutropenia. The protein encoded by this gene is required for neutrophil differentiation, survival and function in microbial activity. JAGN1-deficient human neutrophils are characterized by alterations in trafficking within the endoplasmic reticulum and golgi compartments because of ultrastructural defects in endoplasmic reticulum and susceptibility to apoptosis.</jats:p> </jats:sec> <jats:sec> <jats:title>Observations:</jats:title> <jats:p>We report a patient exhibiting an intermittent neutropenia, for which a next-generation sequencing revealed a homozygous mutation in the JAGN1 gene.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions:</jats:title> <jats:p>The patient extends the clinical variability associated to JAGN1 mutations, and this case highlights the importance of genetic investigations in patients with suspected neutropenia.</jats:p> </jats:sec>