Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in <i>DUOX2</i>.

Finocchi, Andrea; Pacillo, Lucia; Chiriaco, Maria; Di Matteo, Gigliola; Francalanci, Paola; Angelino, Giulia; Caldaro, Tamara; Rivalta, Beatrice; O'Mara, Maurice; Zhang, Suisheng; Lepri, Francesca Romana; Novelli, Antonio; De Angelis, Paola; Knaus, Ulla G; Rea, Francesca

Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.

Finocchi, Andrea; Pacillo, Lucia; Chiriaco, Maria; Di Matteo, Gigliola; Francalanci, Paola; Angelino, Giulia; Caldaro, Tamara; Rivalta, Beatrice; O'Mara, Maurice; Zhang, Suisheng; Lepri, Francesca Romana; Novelli, Antonio; De Angelis, Paola; Knaus, Ulla G; Rea, Francesca.

Afiliação

Finocchi A; Research Unit of Primary Immunodeficiencies, Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Pacillo L; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Chiriaco M; Research Unit of Primary Immunodeficiencies, Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Di Matteo G; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Francalanci P; Research Unit of Primary Immunodeficiencies, Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Angelino G; Research Unit of Primary Immunodeficiencies, Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Caldaro T; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Rivalta B; IRCCS Bambino Gesù Children's Hospital, Unit of Pathology, Rome, Italy.
O'Mara M; IRCCS Bambino Gesù Children's Hospital, Digestive Endoscopy and Surgery Unit, Rome, Italy.
Zhang S; IRCCS Bambino Gesù Children's Hospital, Digestive Endoscopy and Surgery Unit, Rome, Italy.
Lepri FR; Research Unit of Primary Immunodeficiencies, Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Novelli A; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
De Angelis P; School of Medicine, Conway Institute, University College Dublin, Dublin, Ireland.
Knaus UG; School of Medicine, Conway Institute, University College Dublin, Dublin, Ireland.
Rea F; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Translational Cytogenomics Research Unit, Rome, Italy.