R esearchers have identified a genetic cause of a rare, potentially fatal autoinflammatory disorder that can cause symptoms in infancy. The mutation in the proteasome subunit beta type-8 gene (PSMB8) is one cause of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, according to a report in the September issue of Arthritis and Rheumatism [Liu et al., 2011].
Recent reports identify PSMB8 mutations as the cause of symptoms very similar to those of CANDLE. Authors of these reports have called these syndromes joint contractures, muscle atrophy, microcytic anemia, and panniculitisinduced lipodystrophy (JMP) [Torello et al., 2010]; Japanese autoinflammatory syndrome with lipodystrophy [Kitamura et al., 2011]; and Nakajo-Nishimura syndrome (NNS) [Arima et al., 2011]. One paper proposed CANDLE as the new name, while two other groups identified a PSMB8 founder mutation in Japanese patients [Torrelo et al., 2010, Kitamura et al., 2011and Arima et al., 2011].
In the current paper, researchers led by rheumatologist Raphaela Goldbach-Mansky, MD, and dermatologist Abraham Zlotogorski, MD, unify these disorders in one spectrum of proteasome-associated autoinflammatory diseases and describe severely ill patients with early phenotypic signs of CANDLE [Liu et al., 2011].