The autoinflammatory diseases are characterized by seemingly unprovoked episodes of
inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was …

This review describes the key discoveries over the last 15 years that have led to a clearer
understanding of the molecular mechanisms by which bisphosphonate drugs inhibit bone …

Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

The immune system protects the body against harm by inducing inflammation. During the
immune response, cells of the immune system get activated, divided and differentiated in …

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

Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with
an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical …

Disseminated superficial actinic porokeratosis (DSAP) is an autosomal dominantly inherited
epidermal keratinization disorder whose etiology remains unclear. We performed exome …

Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder
characterized by life-long recurring episodes of fever and inflammation, often without clear …

Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory
syndromes, are inherited disorders characterized by recurrent episodes of fever and …

The term autoinflammation was initially coined to distinguish disorders characterized by
recurrent episodes of inflammation in the absence of high-titer autoantibodies and antigen …