Clinical Disease States Related to Mutations of the NOD2 Gene: A Case Report and Literature Review 2023, Walia

[Sly Saint]

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.

https://www.cureus.com/articles/154...2-gene-a-case-report-and-literature-review#!/

Case Presentation
A 63-year-old woman was referred to our Allergy and Immunology clinic for evaluation of chronic rhinosinusitis and eosinophilic asthma. At age 13, she was diagnosed with mosaic Turner syndrome through karyotype testing, and although her adolescence and early adulthood were uneventful, she began experiencing polyarthralgia and chronic fatigue at age 40. Initially diagnosed with an undifferentiated connective tissue disorder, her condition was later re-diagnosed as seronegative rheumatoid arthritis and chronic fatigue syndrome.