Maladie auto-inflammatoire avec hyper-IgD de révélation tardive

Three cases with identical clinical and laboratory profiles have been reported in the literature and diagnosed as late-onset hyper-IgD syndrome. Our case is the only one involving indirect screening for mutation of the mevalonate kinase gene, which proved negative. This finding rules out the diagnosis of classic hyper-IgD syndrome in our case and raises the possibility of auto-inflammatory disease with reactional hyper-IgD of a different cause, either acquired or secondary to an as yet unidentified mutation.