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Explanation for: Yao Syndrome: A Comprehensive Overview The NOD2 gene's normal function is to sense bacterial components and trigger an immune response to fight infection. Its dysfunction, caused by genetic mutations, can lead to an overactive (gain-of-function) or underactive ( loss-of-function ) immune response. NOD2 and NLRC4 are both intracellular immune receptors that help the host detect bacterial infections and initiate immune responses. While they function through different mechanisms, recent evidence shows they can interact and influence each other , especially during bacterial infections. NOD2 is known for recognizing bacterial peptidoglycan components (specifically muramyl dipeptide, MDP) and plays a key role in maintaining immune balance. Mutations in NOD2 are linked to inflammatory diseases like Crohn’s disease. NLRC4 , on the other hand, forms part of a larger protein complex called the inflammasome , which activates inflammatory responses, including the ...

Yao Syndrome (YAOS) is a rare, systemic autoinflammatory disorder characterized by recurrent episodes of inflammation involving multiple organ systems. It is associated with variants in the NOD2 gene, which plays a key role in the regulation of the innate immune system. The condition was previously referred to as NOD2-associated autoinflammatory disease (NAID) but was renamed in recognition of Dr. Qingping Yao, who first described and studied the syndrome in depth. Due to the broad range of symptoms and overlap with other autoimmune, infectious, and inflammatory disorders, Yao Syndrome is frequently underdiagnosed or misdiagnosed. However, increasing awareness and advances in genetic testing have improved recognition of this complex disease. Etiology and Genetic Basis Yao Syndrome is most closely linked to variants in the NOD2 gene , which encodes a protein involved in detecting bacterial components and triggering inflammatory responses in the innate immune system. While some NO...