Fever of undetermined origin may be familial and have a periodic course. This article discusses
three syndromes of hereditary periodic fever: familial Mediterranean fever, the hyper-IgD …

In 1984, Van der Meer and colleagues (53) de scribed 6 patients with periodic fever and a
con stantly elevated polyclonal IgD and labeled the syndrome the hyperimmunoglobulinemia …

The voltage-gated sodium-channel type IX α subunit, known as Na v 1.7 and encoded by
the gene SCN9A, is located in peripheral neurons and plays an important role in action …

Background Primary biliary cholangitis (formerly called primary biliary cirrhosis) can progress
to cirrhosis and death despite ursodiol therapy. Alkaline phosphatase and bilirubin levels …

Objective: Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no
systematic genetic studies have been performed in patients with idiopathic SFN (I‐SFN). We …

Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare,
apparently monogenic, autosomal recessive disorder characterized by recurrent episodes of …

Background Plasmacytoid dendritic cells have been implicated in the pathogenesis of
systemic sclerosis through mechanisms beyond the previously suggested production of type I …

Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive
protease trypsin has a fundamental pathogenetic role. Here we have analyzed the gene …

The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the autoinflammatory
syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK). …

The gene SCN9A is responsible for three human pain disorders. Nonsense mutations cause
a complete absence of pain, whereas activating mutations cause severe episodic pain in …