The first observation of AIH dates back to the 1940s, when a chronic hepatitis with high serum proteins and female preponderance was noted [4]. The disease was better characterized a few years later by the Swedish physician Waldenström, who presented at the meeting of the German Society for...
gastrointestinal disorders: dysphagia (1%) immune system disorders: hemophagocytic lymphohistiocytosis (1%),hypersensitivity reaction (5%) infections and infestations: urinary tract infection c (4.1%) injury, poisoning and procedural complications: fall (3.1%) metabolism and nutrition disorders: tumor lysis ...
The rash is usually the first to appear in Blau; however, by the time the patients present to the rheumatologist all one may find is either a residual pigmented, mildly scaly rash on examination or simply a history of a “strange” rash during infancy. Clinically the most frequent appearance...
Introduction: Monogenic autoinflammatory disorders are characterised by dysregulation of the innate immune system. A significant number of this broadening group of disorders are caused by gain-of-function mutations in inflammasome forming proteins, such as NLRC4. A number of mutations in NLRC4 have ...
Mutation R92QSuperfamille 1A des récepteurs au TNFMutation TNFRSF1ASystemic autoinflammatory diseases are genetic disorders characterized by seemingly unprovoked inflammation, without major involvement of the adaptive immune system. Among them it is recognized the TNF receptor associated periodic syndrome ...