First identification of biallelic inherited DUOX2 inactivating mutations as a cause of very early onset inflammatory bowel disease
M Parlato, F Charbit-Henrion, P Hayes, A Tiberti… - …, 2017 - gastrojournal.org
Dear Editors: By catalyzing generation of hydrogen peroxide (H202) in enterocytes, DUOX2
participates in innate defense against intestinal microbes. 1, 2 One monoallelic exonic
variant of DUOX2 was recently found in 15 out of 19 Crohn disease-affected patients in a
large Ashkenazi family. 3 Herein, we report the first identification of biallelic, inherited
mutations of DUOX2 as a Mendelian cause of very early onset inflammatory bowel disease
(VEO-IBD) in a boy born from unrelated parents of Italian origin. The patient developed …
participates in innate defense against intestinal microbes. 1, 2 One monoallelic exonic
variant of DUOX2 was recently found in 15 out of 19 Crohn disease-affected patients in a
large Ashkenazi family. 3 Herein, we report the first identification of biallelic, inherited
mutations of DUOX2 as a Mendelian cause of very early onset inflammatory bowel disease
(VEO-IBD) in a boy born from unrelated parents of Italian origin. The patient developed …