Article
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.
Gastroenterology - 1 Jun 2018
Denson Lee A, Jurickova Ingrid, Karns Rebekah, Shaw Kelly A, Cutler David J, Okou David T, Dodd Anne, Quinn Kathryn, Mondal Kajari, Aronow Bruce J, Haberman Yael, Linn Aaron, Price Adam, Bezold Ramona, Lake Kathleen, Jackson Kimberly, Walters Thomas D, Griffiths Anne, Baldassano Robert N, Noe Joshua D, Hyams Jeffrey S, Crandall Wallace V, Kirschner Barbara S, Heyman Melvin B, Snapper Scott, Guthery Stephen L, Dubinsky Marla C, Leleiko Neal S, Otley Anthony R, Xavier Ramnik J, Stevens Christine, Daly Mark J, Zwick Michael E, Kugathasan Subra
Abstract excerpt
BACKGROUND & AIMS: Individuals with monogenic disorders of phagocyte function develop chronic colitis that resembles Crohn's disease (CD). We tested for associations between mutations in genes encoding reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidases, neutrophil function, and phenotypes of CD in pediatric patients. METHODS: We performed whole-exome sequence analysis to identify mutations in...
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