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
In 1940, Dr. Kile first described Familial cold autoinflammatory syndrome (FCAS) in a family presenting with recurrent urticaria, arthralgia, and fever after general exposure to cold. In 1962, Muckle-Wells syndrome (MWS), the intermediate phenotype of cryopyrin-associated periodic syndrome (CAPS), in terms of severity, was first described by Muckle and Wells. The association between NLRP3 gene and MWS was made in 1999 by Dr. Cuisset. Neonatal-onset multi-system inflammatory disease (NOMID), the most severe phenotype of CAPS, first discovered by Dr. Lorber in 1973. CAPS 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).
Historical Perspective
Discovery
- In 1940, Dr. Kile first described Familial cold autoinflammatory syndrome (FCAS) in a family presenting with recurrent urticaria, arthralgia, and fever after general exposure to cold.[1]
- In 1962, Muckle-Wells syndrome (MWS), the intermediate phenotype of cryopyrin-associated periodic syndrome (CAPS), in terms of severity, 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 CAPS, first discovered by Dr. Lorber in 1973.[4]
- CAPS 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]
- Dr. Feldmann first found the genetic association of NLRP3 gene, also known as CIAS1 gene, with phenotype of NOMID in 2002.[6]
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.
- ↑ Feldmann, Jérôme; Prieur, Anne-Marie; Quartier, Pierre; Berquin, Patrick; Certain, Stéphanie; Cortis, Elisabetta; Teillac-Hamel, Dominique; Fischer, Alain; Basile, Geneviève de Saint (2002). "Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes". The American Journal of Human Genetics. 71 (1): 198–203. doi:10.1086/341357. ISSN 0002-9297.