Although several factors encoded by genes in the redefined Aec2 region may be involved in secondary manifestations of SjS, OX40L is the one factor that clearly stands out as a primary candidate gene underlying not only the recognized immune dysregulation, as presented above, but also the pathophysiological aberrations associated with chromosome 1 of the C57BL/6.NOD-Aec1Aec2 SjS model. Here, TNFSF4 is linked to Schwartz-Jampel syndrome.