Cryopyrin-associated periodic syndrome
- Cryopyrin-associated periodic syndrome
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| Cryopyrin-associated periodic syndrome |
| Classification and external resources |
| MeSH |
D056587 |
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.
References
Categories:
- Rare diseases
- Autoinflammatory syndromes
- Disease stubs
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2010.
Look at other dictionaries:
cryopyrin-associated periodic syndrome — any in a group of autoinflammatory diseases caused by mutations in the gene that codes for cryopyrin, resulting in fever, arthralgia, urticaria, and inflammation. Called also cryopyrinopathy … Medical dictionary
cryopyrin — cryo·py·rin (kri″o piґrin) a complex protein containing a pyrin domain, a nucleotide binding site, and a leucine rich repeat domain, found in inflammasomes. See also cryopyrin associated periodic syndrome … Medical dictionary
Muckle-Wells syndrome — Infobox Disease Name = Muckle Wells syndrome Caption = DiseasesDB = 30159 ICD10 = ICD10|E|85|0|e|75, ICD10|L|50|8|l|50 ICD9 = ICD9|xxx ICDO = OMIM = 191900 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Muckle Wells syndrome (MWS), also… … Wikipedia
Muckle–Wells syndrome — Classification and external resources ICD 10 Template:ICD10E, L50.8 OMIM 191900 … Wikipedia
familial cold autoinflammatory syndrome — an autosomal dominant autoinflammatory disease (q.v.) in the cryopyrin associated periodic syndromes subgroup, characterized by fever, polyarthralgia, myalgia, urticarial rash, leukocytosis, headache, and conjunctivitis … Medical dictionary
Muckle-Wells syndrome — 1. an autosomal dominant autoinflammatory disease in the cryopyrin associated periodic syndromes subgroup, characterized by amyloidosis involving the kidneys and causing nephritis, recurrent urticaria, deafness, and pain in the extremities … Medical dictionary
NALP3 — NLR family, pyrin domain containing 3 Identifiers Symbols NLRP3; AGTAVPRL; AII; AII/AVP; AVP; C1orf7; CIAS1; CLR1.1; FCAS; FCU; FLJ95925; MWS; NALP3; PYPAF1 External IDs … Wikipedia
Синдром Макла — Уэльса МКБ 10 E85.085.0 L50.850.8 OMIM 191900 191900 … Википедия
Chronic recurrent multifocal osteomyelitis — is also known as Chronic recurring multifocal osteomyelitis. Contents 1 CRMO 2 See also: Majeed syndrome 3 Notes 4 References … Wikipedia
cryopyrinopathy — cryo·py·rin·op·a·thy (kri″o pi″rĭ nopґə the) cryopyrin associated periodic syndrome … Medical dictionary
