PW02-024-B - First report of AA amyloidosis in Blau syndrome

Systemic AA amyloidosis is a life-threatening complication of different chronic infectious and inflammatory diseases. The deposition of amyloid fibrils derived from the serum amyloid A (SAA) protein represents its pathological hallmark. A long lasting and increased serum level of SAA is a prerequisite to its development. The group of inherited autoinflammatory diseases includes different disorders consequence of a genetically-determined dysregulation of innate immune system. All these diseases are associated with a marked acute phase response. The incidence of AA amyloidosis varies widely among them, with the higher incidence in Muckle-Wells syndrome and in TNF receptor-associated periodic syndrome. Inversely, no cases of AA amyloidosis have been reported in some few inherited autoinflammatory diseases, including Blau syndrome, a dominantly-inherited disease caused by NOD2 mutations.