JPediatrGastroenterolNutr. 2023Dec1;77(6):748752. doi:10.1097/MPG.0000000000003846.Epub 2023 May 25.

Ashleigh Watson ¹, Lisa Forbes Satter ², Ashley Reiland Sauceda ², Richard Kellermayer ^1 3, Lina B Karam ¹

Author information

¹From the Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Baylor College of Medicine, Texas Children's Hospital, Houston, TX.

²the Department of Pediatric Allergy and Immunology, Baylor College of Medicine, Texas Children's Hospital, William T. Shearer Center for Human Immunobiology, Houston, TX.

³the USDA ARS Children's Nutrition and Research Center, Houston, TX.

Abstract

NOD2/CARD15 was the first susceptibility gene recognized for adult-onset Crohn's (or Crohn) disease (CD). Recessive inheritance of NOD2 polymorphisms has been implicated as a mechanistic driver of pediatric-onset CD. In patients with very early-onset inflammatory bowel disease (VEO-IBD), however, the clinical relevance of NOD2 polymorphisms has not been fully established. Ten VEO-IBD patients with NOD2 polymorphisms ( NOD2 +) were compared to 16 VEO-IBD patients without genetic variants in NOD2 or any other VEO-IBD susceptibility genes ( NOD2 -). The majority of NOD2 + patients exhibited a CD-like phenotype (90%), linear growth impairment (90%), and arthropathy (60%), all of which were significantly more common than in the NOD2 - group ( P = 0.037, P = 0.004, P = 0.026, respectively). We propose that the presence of NOD2 polymorphisms in patients with VEO-IBD might confer a CD-like phenotype, linear growth impairment, and arthropathy. These findings should be validated in larger cohorts and may guide precision medicine for patients with VEO-IBD in the future.