Cryopyrin-associated periodic syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
Historical Perspective
Discovery
- In 1940, Dr. Kile first described Familial cold autoinflammatory syndrome (FCAS).[1]
- In 1962, Muckle-Wells syndrome (MWS) was first described by Muckle and Wells.[2]
- The association between NLRP3 gene and MWs was made in 1999 by Dr. Cuisset.[3]
- neonatal-onset multisystem inflammatory disease (NOMID), the most severe phenotype of Cryopyrin-associated periodic syndrome, first discovered by Dr. Lorber in 1973.[4]
- Cryopyrin-associated periodic syndrome was first described by Dr. Hoffman, in 2001, following the identification of the NLRP3 gene as the causative mutant gene in families with Familial cold autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS).[5]
Landmark Events in the Development of Treatment Strategies
Impact on Cultural History
Famous Cases
The following are a few famous cases of [disease name]:
References
- ↑ Kile, Roy L.; Rusk, Howard A. (1940). "A CASE OF COLD URTICARIA WITH AN UNUSUAL FAMILY HISTORY". Journal of the American Medical Association. 114 (12). doi:10.1001/jama.1940.62810120003010b. ISSN 0002-9955.
- ↑ "URTICARIA, DEAFNESS, AND AMYLOIDOSIS: A NEW HEREDO-FAMILIAL SYNDROME". QJM: An International Journal of Medicine. 1962. doi:10.1093/oxfordjournals.qjmed.a066967. ISSN 1460-2393.
- ↑ Cuisset, Laurence; Drenth, Joost P.H.; Berthelot, Jean-Marie; Meyrier, Alain; Vaudour, Gérard; Watts, Richard A.; Scott, David G.I.; Nicholls, Anne; Pavek, Sylvana; Vasseur, Christian; Beckmann, Jacques S.; Delpech, Marc; Grateau, Gilles (1999). "Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44". The American Journal of Human Genetics. 65 (4): 1054–1059. doi:10.1086/302589. ISSN 0002-9297.
- ↑ J. Lorber (1973). "Syndrome for diagnosis: dwarfing, persistently open fontanelle; recurrent meningitis; recurrent subdural effusions with temporary alternate-sided hemiplegia; high-tone deafness; visual defect with pseudopapilloedema; slowing intellectual development; recurrent acute polyarthritis; erythema marginatum, splenomegaly and iron-resistant hypochromic anaemia". Proceedings of the Royal Society of Medicine. 66 (11): 1070–1071. PMID 4777015. Unknown parameter
|month=ignored (help) - ↑ Hoffman, Hal M.; Mueller, James L.; Broide, David H.; Wanderer, Alan A.; Kolodner, Richard D. (2001). "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome". Nature Genetics. 29 (3): 301–305. doi:10.1038/ng756. ISSN 1061-4036.