title: Hereditary immunologic disorders caused by pyrin and cryopyrin.
abstract: A new family of hereditary immunologic disorders known as the autoinflammatory diseases involves dysregulation of the innate immune system. Elucidation of the genetic basis of these disorders has resulted in improved understanding of the disease pathophysiology of systemic and tissue inflammation, and has also revealed novel nonpathologic innate immune mechanisms. These advances have also resulted in direct improvement in diagnosis and therapy for autoinflammatory disorders such as the cryopyrinopathies and familial Mediterranean fever and have implications for more common inflammatory diseases.
authors: Division of Rheumatology, Allergy, and Immunology, University of California at San Diego Medical School, 9500 Gilman Drive, La Jolla, CA 92093-0635, USA. hahoffman@ucsd.edu
authors: Hal M
authors: HM
authors: Hoffman
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002352:Carrier Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D000071198:Pyrin
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D000071198:Pyrin
references: Hum Genet. 2003 Feb;112(2):209-16
references: 12522564
references: Cell. 1997 Aug 22;90(4):797-807
references: 9288758
references: Cell. 2002 Apr;109 Suppl:S21-33
references: 11983150
references: Curr Opin Rheumatol. 2005 Sep;17(5):586-99
references: 16093838
references: Johns Hopkins Med J. 1971 Feb;128(2):57-74
references: 4928107
references: Cell Death Differ. 2007 Aug;14 (8):1457-66
references: 17431422
references: J Immunol. 2002 Oct 15;169(8):4088-93
references: 12370334
references: Nat Genet. 2001 Mar;27(3):318-21
references: 11242116
references: Lancet. 2004 Nov 13-19;364(9447):1779-85
references: 15541451
references: Nat Rev Immunol. 2007 Jan;7(1):31-40
references: 17186029
references: Nat Rev Mol Cell Biol. 2003 Feb;4(2):95-104
references: 12563287
references: Immunogenetics. 2005 Jul;57(6):385-92
references: 16001129
references: Arthritis Rheum. 2007 Apr;56(4):1273-1285
references: 17393462
references: N Engl J Med. 2006 Aug 10;355(6):581-92
references: 16899778
references: Nat Rev Immunol. 2003 May;3(5):371-82
references: 12766759
references: Nat Immunol. 2005 Oct;6(10):973-9
references: 16177805
references: J Biol Chem. 2002 Mar 29;277(13):11570-5
references: 11786556
references: J Rheumatol. 2005 Apr;32(4):747-51
references: 15801036
references: Immunol Today. 1995 Jul;16(7):313-5
references: 7576061
references: Blood. 2007 Apr 1;109 (7):2903-11
references: 17164343
references: Nat Genet. 2001 Nov;29(3):301-5
references: 11687797
references: Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6764-9
references: 17420470
references: N Engl J Med. 2007 Mar 22;356(12):1216-25
references: 17377159
references: Gene. 2004 Aug 18;338(1):25-34
references: 15302403
references: Nature. 1997 Jul 24;388(6640):394-7
references: 9237759
references: N Engl J Med. 2003 Jun 19;348(25):2583-4
references: 12815153
references: J Immunol. 2005 Aug 15;175(4):2630-4
references: 16081838
references: Arthritis Rheum. 2004 Feb;50(2):607-12
references: 14872505
references: J Histochem Cytochem. 2007 May;55(5):443-52
references: 17164409
references: Am J Hum Genet. 2002 Jul;71(1):198-203
references: 12032915
references: Br J Pharmacol. 1999 Aug;127(8):1915-21
references: 10482924
references: Curr Opin Rheumatol. 2006 Jan;18(1):108-17
references: 16344627
references: Microbes Infect. 2007 Apr;9(5):648-57
references: 17376727
references: Br J Dermatol. 1979 Jan;100(1):87-92
references: 427013
references: Immunity. 2004 Mar;20(3):319-25
references: 15030775
references: Adv Hum Genet. 1987;16:229-97
references: 3031956
references: J Allergy Clin Immunol. 2001 Oct;108(4):615-20
references: 11590390
references: Curr Opin Plant Biol. 2004 Aug;7(4):391-9
references: 15231261
references: Trends Immunol. 2005 Aug;26(8):447-54
references: 15967716
references: Joint Bone Spine. 2006 Dec;73(6):672-8
references: 17067838
references: Mol Cell. 2002 Aug;10(2):417-26
references: 12191486
references: Arthritis Rheum. 2002 Dec;46(12 ):3340-8
references: 12483741
references: Curr Biol. 2004 Nov 9;14 (21):1929-34
references: 15530394
references: Ann Rheum Dis. 2005 May;64(5):708-14
references: 15498798
references: Cell Death Differ. 2000 Dec;7(12 ):1273-4
references: 11270363
references: Hosp Pract (1995). 1998 Apr 15;33(4):131-4, 139-40, 143-6 passim
references: 9562837
references: Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):9982-7
references: 16785446
references: Scand J Rheumatol Suppl. 1987;66:57-68
references: 3482735
references: Nat Rev Immunol. 2006 Mar;6(3):183-95
references: 16498449
references: Curr Top Microbiol Immunol. 2006;305:127-60
references: 16724804
references: Nat Genet. 2005 May;37(5):486-94
references: 15821736
references: Biochem Biophys Res Commun. 2003 Mar 14;302(3):575-80
references: 12615073
references: J Leukoc Biol. 2007 Jul;82(1):177-83
references: 17403772
references: Nat Genet. 1997 Sep;17 (1):25-31
references: 9288094
references: J Allergy Clin Immunol. 2006 Feb;117(2 Suppl Mini-Primer):S435-41
references: 16455342