Clinical Disease States Related to Mutations of the NOD2 Gene: A Case Report and Literature Review

Abstract

Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) is a protein encoded by the NOD2 gene and plays an important role in the immune system. NOD2 is an intracellular pattern recognition receptor (PRR) responsible for the recognition of pathogens as well as the activation of many biochemical processes within cells of the host immune system. Mutations of the NOD2 gene can significantly impact the host's immune response against a variety of pathogens. In addition to immunodeficiency, mutations of the NOD2 gene have also been linked with several atopic diseases and autoimmune conditions such as rheumatoid arthritis and Crohn's disease (CD). There is also a distinct set of autoinflammatory conditions that are now classified as NOD2-associated autoinflammatory diseases (NAID). We present a case of a 63-year-old female with common variable immunodeficiency, eosinophilic asthma, and rheumatoid arthritis who was found to have a NOD2 mutation on genetic testing. As genetic testing continues to gain popularity, several disease states that were previously thought to be unrelated are now being recognized as originating from a common genetic defect.

Triadic Dynamics of Gastric Bacterial Microbiome, Phageome, and Host Genotype, with Implications for Disease Associations

“…Variations in the NOD2 gene have been associated with several inflammatory disorders including Crohn’s disease and Blau syndrome. It is involved in the recognition of bacterial compounds and initiation of an immune response (Al Nabhani et al, 2017; Bauer et al, 2023; Ripoll et al, 2023; Walia & Mujahid, 2023). The rs115198942 (C/T) variant located within the intron region of the IL23R gene is correlated with both Lederbergvirus and Escherichia hosts.…”