Introduction Cryopyrin-associated periodic syndromes (CAPS) are a group of dominantly inherited disorders caused by gainof-function NLRP3 mutations. These disorders represent different degrees of severity of a same disease being familial cold autoinflammatory syndrome the milder form, Muckle-Wells syndrome an intermediate form and chronic infantile neurologic cutaneous and articular syndrome th...

Introduction Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent, inflammatory, self-limited episodes of fever and serositis. Neutrophils are one of the key players in the pathophysiology of FMF. Macrophage migration inhibitory factor (MIF) is a pleiotropic cytokine involved in several inflammatory processes including innate and adaptive immune response...

Hsp90 is a molecular chaperone responsible for the assembly and regulation of many cellular client proteins. In particular, Trap1, a mitochondrial Hsp90 homologue, plays a pivotal role in maintaining mitochondrial integrity, protecting against apoptosis in cancer cells. The N (N-terminal)-M (middle) domain of human Trap1 was crystallized in complex with Hsp90 inhibitors (PU-H71 and BIIB-021) by...

Results A total of 19 patients (11 M:8 F) had been found to carry the Del M694 variant. Clinical details were available on 16 patients who had been assessed at our centre. 13 were of white British ancestry, the other 3 were of Irish ancestry. 2 patients gave no relevant family history, 1 was adopted and unaware of any family details, 10 patients (from 5 kindreds) gave a history of similar sympt...

Introduction Autosomal Recessive Osteopetrosis (ARO) is a severe bone disease characterized by increased bone density due to impairment in osteoclast bone resorptive function (osteoclast-rich forms) or differentiation (osteoclast-poor forms). The latter form carries mutations in Tnfsf11 gene, which codifies for the receptor activator of NFB ligand (RANKL), an essential cytokine expressed in str...