Cryopyrin-associated periodic syndrome
Encyclopedia
Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome (FCAS, formerly termed familial cold-induced urticaria), the Muckle-Wells syndrome
(MWS), and neonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and articular syndrome or CINCA). They share many clinical features.
These syndromes are associated with mutations in NLRP3, the gene encoding cryopyrin. This is a component of the interleukin 1 inflammasome
, and mutations lead to unregulated production of interleukin 1β. Monoclonal antibodies against interleukin 1β (such as canakinumab
), other interleukin 1 binding proteins (such as rilonacept
), or interleukin 1 receptor antagonist (for example anakinra
) can be used to treat these disorders.
Muckle-Wells syndrome
Muckle–Wells syndrome , also known as , is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and painful joints. As a result, MWS is considered a type of periodic fever syndrome...
(MWS), and neonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and articular syndrome or CINCA). They share many clinical features.
These syndromes are associated with mutations in NLRP3, the gene encoding cryopyrin. This is a component of the interleukin 1 inflammasome
Inflammasome
The inflammasome is a multiprotein oligomer consisting of caspase 1, PYCARD, NALP and sometimes caspase 5 . It is expressed in myeloid cells and is a component of the innate immune system. The exact composition of an inflammasome depends on the activator which initiates inflammasome assembly i.e...
, and mutations lead to unregulated production of interleukin 1β. Monoclonal antibodies against interleukin 1β (such as canakinumab
Canakinumab
Canakinumab is a human monoclonal antibody targeted at interleukin-1 beta. It has no cross-reactivity with other members of the interleukin-1 family, including interleukin-1 alpha....
), other interleukin 1 binding proteins (such as rilonacept
Rilonacept
Rilonacept also known as IL-1 Trap , is a dimeric fusion protein consisting of the extracellular domain of human interleukin-1 receptor and the FC domain of human IgG1 that binds and neutralizes IL-1.Rilonacept is used for the treatment of cryopyrin-associated periodic syndromes , including familial...
), or interleukin 1 receptor antagonist (for example anakinra
Anakinra
Anakinra is a drug used to treat rheumatoid arthritis.-Mechanism:Anakinra is an interleukin-1 receptor antagonist...
) can be used to treat these disorders.