Fig. 10

NF-κB activation pathway in patients with Blau syndrome (BS)/early-onset sarcoidosis (EOS). NOD2 recognizes muramyl dipeptide (MDP), a minimum component of peptidoglycan, leading to activation of NF-κB. Gain-of-function mutations in NOD2 (e.g., R334W) increase signaling via NOD2-RIPK2-associated activation of NF-κB