NFKB1 and Menkes disease: Furthermore, TWEAK released from intermediate cells and bound to its receptor (TNFRSF12A) in the marginal cells may upregulate NF-κB inflammatory response in MD patients.<h4>Conclusion</h4>We hypothesize that some SV genes may contribute to the audiovestibular phenotype in MD, but most of them play a role in the altered immune response found in Sporadic MD.