Cryopyrin-associated periodic syndrome causes: Difference between revisions
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==Overview== | ==Overview== | ||
Cryopyrin-associated periodic syndrome is caused by a mutation in the NLRP3, also known as CIAS1, gene. | Cryopyrin-associated periodic syndrome is [[Cause|caused]] by a [[mutation]] in the NLRP3, also known as [[CIAS1]], [[gene]]. | ||
==Causes== | ==Causes== | ||
===Genetic Causes=== | ===Genetic Causes=== | ||
*Cryopyrin-associated periodic syndrome is caused by a mutation in the NLRP3, also known as CIAS1, gene.<ref name="HoffmanMueller2001">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Mueller|first2=James L.|last3=Broide|first3=David H.|last4=Wanderer|first4=Alan A.|last5=Kolodner|first5=Richard D.|title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome|journal=Nature Genetics|volume=29|issue=3|year=2001|pages=301–305|issn=1061-4036|doi=10.1038/ng756}}</ref><ref name="DodéLe Dû2002">{{cite journal|last1=Dodé|first1=Catherine|last2=Le Dû|first2=Nathalie|last3=Cuisset|first3=Laurence|last4=Letourneur|first4=Frank|last5=Berthelot|first5=Jean-Marie|last6=Vaudour|first6=Gérard|last7=Meyrier|first7=Alain|last8=Watts|first8=Richard A|last9=David Scott|first9=G.I.|last10=Nicholls|first10=Anne|last11=Granel|first11=Brigitte|last12=Frances|first12=Camille|last13=Garcier|first13=François|last14=Edery|first14=Patrick|last15=Boulinguez|first15=Serge|last16=Domergues|first16=Jean-Paul|last17=Delpech|first17=Marc|last18=Grateau|first18=Gilles|title=New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes|journal=The American Journal of Human Genetics|volume=70|issue=6|year=2002|pages=1498–1506|issn=00029297|doi=10.1086/340786}}</ref><ref name="FeldmannPrieur2002">{{cite journal|last1=Feldmann|first1=Jérôme|last2=Prieur|first2=Anne-Marie|last3=Quartier|first3=Pierre|last4=Berquin|first4=Patrick|last5=Certain|first5=Stéphanie|last6=Cortis|first6=Elisabetta|last7=Teillac-Hamel|first7=Dominique|last8=Fischer|first8=Alain|last9=Basile|first9=Geneviève de Saint|title=Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes|journal=The American Journal of Human Genetics|volume=71|issue=1|year=2002|pages=198–203|issn=00029297|doi=10.1086/341357}}</ref> | *Cryopyrin-associated periodic syndrome is [[Cause|caused]] by a [[mutation]] in the NLRP3, also known as [[CIAS1]], [[gene]].<ref name="HoffmanMueller2001">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Mueller|first2=James L.|last3=Broide|first3=David H.|last4=Wanderer|first4=Alan A.|last5=Kolodner|first5=Richard D.|title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome|journal=Nature Genetics|volume=29|issue=3|year=2001|pages=301–305|issn=1061-4036|doi=10.1038/ng756}}</ref><ref name="DodéLe Dû2002">{{cite journal|last1=Dodé|first1=Catherine|last2=Le Dû|first2=Nathalie|last3=Cuisset|first3=Laurence|last4=Letourneur|first4=Frank|last5=Berthelot|first5=Jean-Marie|last6=Vaudour|first6=Gérard|last7=Meyrier|first7=Alain|last8=Watts|first8=Richard A|last9=David Scott|first9=G.I.|last10=Nicholls|first10=Anne|last11=Granel|first11=Brigitte|last12=Frances|first12=Camille|last13=Garcier|first13=François|last14=Edery|first14=Patrick|last15=Boulinguez|first15=Serge|last16=Domergues|first16=Jean-Paul|last17=Delpech|first17=Marc|last18=Grateau|first18=Gilles|title=New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes|journal=The American Journal of Human Genetics|volume=70|issue=6|year=2002|pages=1498–1506|issn=00029297|doi=10.1086/340786}}</ref><ref name="FeldmannPrieur2002">{{cite journal|last1=Feldmann|first1=Jérôme|last2=Prieur|first2=Anne-Marie|last3=Quartier|first3=Pierre|last4=Berquin|first4=Patrick|last5=Certain|first5=Stéphanie|last6=Cortis|first6=Elisabetta|last7=Teillac-Hamel|first7=Dominique|last8=Fischer|first8=Alain|last9=Basile|first9=Geneviève de Saint|title=Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes|journal=The American Journal of Human Genetics|volume=71|issue=1|year=2002|pages=198–203|issn=00029297|doi=10.1086/341357}}</ref> | ||
Revision as of 20:00, 16 July 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];
Overview
Cryopyrin-associated periodic syndrome is caused by a mutation in the NLRP3, also known as CIAS1, gene.
Causes
Genetic Causes
- Cryopyrin-associated periodic syndrome is caused by a mutation in the NLRP3, also known as CIAS1, gene.[1][2][3]
References
- ↑ 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.
- ↑ Dodé, Catherine; Le Dû, Nathalie; Cuisset, Laurence; Letourneur, Frank; Berthelot, Jean-Marie; Vaudour, Gérard; Meyrier, Alain; Watts, Richard A; David Scott, G.I.; Nicholls, Anne; Granel, Brigitte; Frances, Camille; Garcier, François; Edery, Patrick; Boulinguez, Serge; Domergues, Jean-Paul; Delpech, Marc; Grateau, Gilles (2002). "New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes". The American Journal of Human Genetics. 70 (6): 1498–1506. doi:10.1086/340786. ISSN 0002-9297.
- ↑ 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.