Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation

Marianna Parlato; Fabienne Charbit-Henrion; Elie Abi Nader; Bernadette Begue; Nicolas Guegan; Julie Bruneau; Shérine Khater; Elizabeth Macintyre; Capucine Picard; Rieux-Laucat Frédéric; Lionel Le Bourhis; Matthieu Allez; Olivier Goulet; Christophe Cellier; Olivier Hermine; Nadine Cerf-Bensussan; Georgia Malamut

doi:10.1053/j.gastro.2018.11.065

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation

Gastroenterology. 2019 Mar;156(4):1206-1210.e1. doi: 10.1053/j.gastro.2018.11.065. Epub 2018 Dec 15.

Authors

Marianna Parlato¹, Fabienne Charbit-Henrion², Elie Abi Nader³, Bernadette Begue⁴, Nicolas Guegan⁴, Julie Bruneau⁵, Shérine Khater⁶, Elizabeth Macintyre⁷, Capucine Picard⁸, Rieux-Laucat Frédéric⁹, Lionel Le Bourhis¹⁰, Matthieu Allez¹¹, Olivier Goulet¹², Christophe Cellier¹³, Olivier Hermine¹⁴, Nadine Cerf-Bensussan¹⁵, Georgia Malamut¹⁶

Affiliations

¹ Inserm UMR1163, Intestinal Immunity, Institut Imagine, Paris, France.
² Inserm UMR1163, Intestinal Immunity, Institut Imagine, Paris, France; Université Paris Descartes Sorbonne Paris Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Pediatric Gastroenterology, Hôpital Necker-Enfants Malades, Paris, France.
³ Inserm UMR1163, Intestinal Immunity, Institut Imagine, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Pediatric Gastroenterology, Hôpital Necker-Enfants Malades, Paris, France.
⁴ Inserm UMR1163, Intestinal Immunity, Institut Imagine, Paris, France; Université Paris Descartes Sorbonne Paris Cité, Paris, France.
⁵ Université Paris Descartes Sorbonne Paris Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Pediatric Gastroenterology, Hôpital Necker-Enfants Malades, Paris, France; AP-HP, Pathology, Hôpital Necker-Enfants Malades, Paris, France.
⁶ AP-HP, Gastroenterology Hôpital Européen Georges Pompidou, Paris, France.
⁷ Biological Hematology, Hôpital Necker Enfants Malades, Paris, France.
⁸ Université Paris Descartes Sorbonne Paris Cité, Paris, France; AP-HP, Study Center of Primary Immunodeficiency, Hôpital Necker-Enfants Malades, Paris, France.
⁹ Université Paris Descartes Sorbonne Paris Cité, Paris, France; Inserm UMR1163, Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine, Paris, France.
¹⁰ Inserm UMR 1160, Paris, France.
¹¹ Inserm UMR 1160, Paris, France; AP-HP Gastroenterology Hôpital Saint Louis, Université Paris, Diderot, France.
¹² Inserm UMR1163, Intestinal Immunity, Institut Imagine, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Pediatric Gastroenterology, Hôpital Necker-Enfants Malades, Paris, France; AP-HP, Pathology, Hôpital Necker-Enfants Malades, Paris, France.
¹³ Inserm UMR1163, Intestinal Immunity, Institut Imagine, Paris, France; Université Paris Descartes Sorbonne Paris Cité, Paris, France; AP-HP, Gastroenterology Hôpital Européen Georges Pompidou, Paris, France.
¹⁴ Université Paris Descartes Sorbonne Paris Cité, Paris, France; Hematology, Hôpital Necker Enfants Malades, Paris, France.
¹⁵ Inserm UMR1163, Intestinal Immunity, Institut Imagine, Paris, France; Université Paris Descartes Sorbonne Paris Cité, Paris, France. Electronic address: nadine.cerf-bensussan@inserm.fr.
¹⁶ Inserm UMR1163, Intestinal Immunity, Institut Imagine, Paris, France; Université Paris Descartes Sorbonne Paris Cité, Paris, France; AP-HP, Gastroenterology, Hôpital Cochin, Paris, France. Electronic address: georgia.malamut@aphp.fr.

No abstract available

Keywords: Autoimmune Enteropathy; Immune Regulation; JAK1/2 Inhibitor; Monogenic Disorders.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chronic Disease
Diarrhea / etiology
Enterocolitis / complications
Enterocolitis / drug therapy*
Enterocolitis / genetics*
Exome Sequencing
Female
Gain of Function Mutation
Humans
Nitriles
Protein Kinase Inhibitors / therapeutic use*
Pyrazoles / therapeutic use*
Pyrimidines
STAT3 Transcription Factor / genetics*
Young Adult

Substances

Nitriles
Protein Kinase Inhibitors
Pyrazoles
Pyrimidines
STAT3 Transcription Factor
STAT3 protein, human
ruxolitinib