Review of Biologics in Children With Rheumatic Diseases

Shabina Habibi; Athimalaipet V Ramanan


Int J Clin Rheumatol. 2012;7(1):81-93. 

In This Article

Hereditary Periodic Fever Syndromes

The hereditary periodic fever syndromes consist of a spectrum of rare, inherited, chronic, multisystem, auto-inflammatory syndromes. They include familial Mediterranean fever, hyperimmunoglobulin D syndrome (HIDS), TNF receptor associated periodic fever syndrome (TRAPS) and the cryopyrin associated periodic fever syndrome (CAPS), which is comprised of three entities: familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disorder (NOMID; also called chronic infantile neurological cutaneous articular syndrome [CINCA]). These disorders are characterized by recurrent episodes of fever, rash, arthralgias and arthritis, serositis and in some instances conjunctivitis, sensorineural deafness, chronic meningitis and intellectual impairment. Systemic amyloid associated amyloidosis can develop due to chronic ongoing inflammation with significant morbidity and mortality.

TRAPS is associated with missense mutations in the p55 subunit of the TNF receptor, leading to aberrant signaling of the TNF-α receptor. The age of onset, frequency and severity of attacks and response to corticosteroids are highly variable. HIDS is caused by mutations in the mevalonate kinase gene, which encodes an enzyme involved in cholesterol biosynthesis. Polyclonal IgD levels are elevated. TNF-α levels are elevated in the serum in both of the above disorders and are potential targets for therapy.[59] CAPS are characterized by mutations in NLRP3, the gene encoding cryopyrin, a component of the IL-1 inflammasome, leading to the overproduction of IL-1β. Therapies targeting this cytokine have shown promising results.


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