The objective of this review is to describe the clinical manifestations of the growing spectrum
of monogenic autoinflammatory diseases including recently described syndromes. The …

Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system
dysregulation leading to aberrant inflammasome activation and episodes of fever and …

Objective. To describe the efficacy and safety of IL-1-targeting drugs, anakinra and
canakinumab, in patients with mevalonate kinase deficiency (MKD). Methods. A …

Autoinflammatory disorders are characterized by usually unprovoked recurrent episodes of
features of inflammation caused by activation of the innate immune system. Many …

Treatment of monogenic autoinflammatory disorders, an expanding group of hereditary
diseases characterized by apparently unprovoked recurrent episodes of inflammation …

PURPOSE OF THE REVIEW: Inherited autoinflammatory syndromes are conditions caused
by mutations of proteins playing a pivotal role in the regulation of the innate immunity …

The genetic characterization of a growing number of monogenic autoinflammatory diseases
has provided important insights into the phenotypic expression of single gene disorders and …

Hyperimmunoglobulinemia D syndrome (HIDS) is an autoinflammatory disorder that is
caused by mevalonate kinase deficiency (MKD). Recent advances in the pathogenesis of …

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive inborn error of
metabolism with an autoinflammatory phenotype that may be expressed as a spectrum of …

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, autoinflammatory
condition caused by mutations in the mevalonate kinase gene. There is no standard …