Article: Spectrum of inflammatory manifestations in patients with nucleotide-binding oligomerization domain containing 2 high-risk alleles

Authors: Michell M Lozano-Chinga, Madalyn Walsh, Brooke Harrison, Zuhair K Ballas

Journal: Ann Allergy Asthma Immunol. 2024 Aug 22:S1081-1206(24)00530-1

Excerpt:
Nucleotide-binding oligomerization domain containing 2 (NOD2) is a member of the N-terminal caspase recruitment domains that functions as an intracellular pathogen recognition receptor. NOD2 is localized in chromosome 16q12-21 and has 12 exons that translate to a protein of 1040 amino acids. The NOD2 protein contains 2 N-terminal caspase recruitment domains, a central NOD-like receptor or nucleotide-binding domain, and 6 leucine-rich repeat regions. NOD2 is involved in inflammatory responses through the activation of the nuclear factor-kappa B, mitogen-activated protein kinases, type I interferons, and autophagy.1 NOD2 has been classically described as a risk factor for the development of Crohn’s disease (CD), but it has also been associated with extraintestinal inflammatory manifestations (EIMs) including Blau and Yao syndromes. The EIMs are seen in 21% to 71% of patients with inflammatory bowel syndrome, and up to 35% of patients may present with EIM before the development of intestinal symptoms. The EIMs are mostly seen in the pediatric population with inflammatory bowel disease (IBD) and patients of any age with CD in comparison with ulcerative colitis (UC).

Link to journal online: https://www.sciencedirect.com/science/article/pii/S1081120624005301