Autoinflammatory diseases are defined as recurrent attacks of systemic inflammation that are often unprovoked (or triggered by a minor event) related to a lack of adequate regulation of the innate immune system. Within the past decade, the list of autoinflammatory diseases has included cryopyrin-associated periodic syndromes, familial Mediterranean fever, mevalonate kinase deficiency, tumor nec...

Familial Mediterranean fever, an autosomal recessive disorder, is a member of the periodic fever syndromes, and considered to be the most common cause of recurrent febrile episodes in children. It is important to understand the disorder as familial Mediterranean fever falls on a spectrum of various presentations; the recurrent episodes of familial Mediterranean fever may be so severe that the q...

The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was proposed ten years ago with the identification of the genes underlying hereditary periodic fever syndromes. NLRP3 inflammasome activation and IL-1β secretion have recently emerged as a central mechanism in the pathogenes...

Human autoinflammatory diseases (HAIDs) are a heterogeneous group of genetically determined affections characterized by seemingly unprovoked inflammation, in the absence of autoimmune or infective causes. The hereditary periodic fever syndromes (HPFSs) are a HAID subset consisting of three main nosologic entities: familial Mediterranean fever (FMF), hyperimmunoglobulinemia D and periodic fever ...

Hereditary periodic fever syndromes are characterized by incapacitating attacks of fever and generalized inflammation. While the mutated genes for the major syndromes in this group are known, the pathogenesis remains unclear. The aim of this study was to investigate apoptosis in patients with periodic fever as a possible pathogenic factor. We measured anisomycin-induced apoptosis with annexin-V...

Introduction PFAPA syndrome (acronym for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common cause of periodic fever in childhood. It is considered part of the wide family of the autoinflammatory diseases, but a genetic or molecular marker hasn’t been identified yet, therefore, its etiology is still unknown. Diagnosis is essentially based on clinical crite...