Inflammatory Bowel Disease · Pathology

What is the primary genetic association found in many patients with Crohn disease, involving intracellular bacteria sensing?

  1. NOD2 (CARD15) mutations
  2. HLA-B27 positivity
  3. APC gene mutations
  4. CFTR gene deletions
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Correct answer: NOD2 (CARD15) mutations

NOD2 encodes a protein that recognizes bacterial peptidoglycans. Mutations in NOD2 are strongly linked to Crohn disease, particularly ileal involvement, by impairing the host's ability to regulate the mucosal immune response to gut microbes.

Difficulty: Medium Question 15 of 20

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