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Hereditary periodic fever syndromes 

Hereditary periodic fever syndromes
Hereditary periodic fever syndromes

Helen J. Lachmann

and Philip N. Hawkins



Description of newly described genetic systemic auto-inflammatory diseases: (1) NLRP12 associated periodic fever syndrome; (2) deficiency of the IL-1 receptor antagonist (DIRA); (3) Majeed Syndrome; (4) deficiency of the IL-36 receptor antagonist (DITRA); and (5) chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.

Description of the autoinflammatory diseases of unknown aetiology: (1) periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) and (2) Schnitzler’s syndrome.

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date: 27 September 2021

The hereditary periodic fever syndromes are autoinflammatory diseases that mostly present in childhood and are characterized by recurrent, self-limiting, seemingly unprovoked episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection.

Disorders include (1) familial Mediterranean fever (FMF), due to mutation in the gene encoding pyrin; (2) tumour necrosis factor (TNF) receptor associated periodic syndrome (TRAPS), due to mutation in a gene for a TNF receptor; (3) Mevalonate kinase deficiency and period fever (MKD), caused by mutations in the mevalonate kinase gene; and (4) the cryopyrin associated periodic syndromes (CAPS), which include (a) familial cold urticarial syndrome, (b) Muckle–Wells syndrome, and (c) chronic infantile neurological, cutaneous and articular syndrome. Understanding of the molecular pathogenesis of these disorders provides unique insights into the regulation of innate immunity and inflammation....

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