Transcriptome analysis of the whole thymus revealed contrasting data, showing down regulation of genes involved in antigen processing and presentation and in thymic T-cell differentiation/selection, as well as downregulation of TRAs (18), while another study performed on thymocyte-depleted thymic specimens showed elevated expression of AIRE mRNA and a trend toward increased expression of some AIRE-dependent TRA genes in DS patients (19). The gene discussed is AIRE; the disease is Dravet syndrome.