First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease

Affiliations

¹ INSERM, UMR1163, Laboratory of Intestinal Immunity and Institut Imagine, Paris, France and GENIUS group from ESPGHAN and Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
² INSERM, UMR1163, Laboratory of Intestinal Immunity and Institut Imagine, Paris, France and GENIUS group from ESPGHAN and Université Paris Descartes-Sorbonne Paris Cité and Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Department of Pediatric Gastroenterology, Paris, France.
³ Conway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
⁴ Pediatric Gastroenterology, Hepatology and Digestive Endoscopy Unit, University Hospital Umberto I, Rome, Italy.
⁵ GENIUS group from ESPGHAN and Pediatric Gastroenterology, Hepatology and Digestive Endoscopy Unit, University Hospital Umberto I, Rome, Italy.
⁶ Bioinformatics Platform, Université Paris-Descartes-Paris Sorbonne Centre and Institut Imagine, Paris, France.
⁷ Genomic Platform, Institut Imagine, Paris, France.
⁸ INSERM, UMR1163, Laboratory of Intestinal Immunity and Institut Imagine, Paris, France and GENIUS group from ESPGHAN and Université Paris Descartes-Sorbonne Paris Cité, Paris, France and Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Department of Pediatric Gastroenterology, Paris, France.

Case Reports

Marianna Parlato et al. Gastroenterology. 2017 Aug.

. 2017 Aug;153(2):609-611.e3.

doi: 10.1053/j.gastro.2016.12.053. Epub 2017 Jul 3.

¹ INSERM, UMR1163, Laboratory of Intestinal Immunity and Institut Imagine, Paris, France and GENIUS group from ESPGHAN and Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
² INSERM, UMR1163, Laboratory of Intestinal Immunity and Institut Imagine, Paris, France and GENIUS group from ESPGHAN and Université Paris Descartes-Sorbonne Paris Cité and Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Department of Pediatric Gastroenterology, Paris, France.
³ Conway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
⁴ Pediatric Gastroenterology, Hepatology and Digestive Endoscopy Unit, University Hospital Umberto I, Rome, Italy.
⁵ GENIUS group from ESPGHAN and Pediatric Gastroenterology, Hepatology and Digestive Endoscopy Unit, University Hospital Umberto I, Rome, Italy.
⁶ Bioinformatics Platform, Université Paris-Descartes-Paris Sorbonne Centre and Institut Imagine, Paris, France.
⁷ Genomic Platform, Institut Imagine, Paris, France.
⁸ INSERM, UMR1163, Laboratory of Intestinal Immunity and Institut Imagine, Paris, France and GENIUS group from ESPGHAN and Université Paris Descartes-Sorbonne Paris Cité, Paris, France and Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Department of Pediatric Gastroenterology, Paris, France.

No abstract available

Publication types