Case Report: Diverse pediatric phenotypes of RELA frameshift variants: comparison of two cases

C-terminal truncations in the transcriptional activation domain of <i>RELA</i> lead to haploinsufficiency and an inflammatory phenotype that depends on the cell type and stimulus. <i>RELA</i> screening should be considered in the evaluation of children with unexplained autoinflammatory presentation, even in the absence of mucosal ulceration.