title: Autoinflammatory Syndromes in Children.
abstract: Systemic autoinflammatory diseases are rare disorders of innate immunity which usually present in childhood with recurrent or continuous attacks of fever and systemic inflammation. The discovery of the genetic defect underlying Familial Mediterranean fever in 1997 has proved exceptionally informative about the innate immune system and the regulation of pro inflammatory cytokines particularly IL-1. Although extremely rare, systemic autoinflammatory diseases are important to recognise as many can now be completely controlled by long term drug therapies. Diagnosis relies on clinical suspicion followed by genetic testing. This review will focus on the main systemic autoinflammatory diseases.
authors.affiliation: Centre For Nephrology, and Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, University College London, London, UK.
authors.forename: Ruth J
authors.initials: RJ
authors.lastname: Pepper
authors.affiliation: Centre For Nephrology, and Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, University College London, London, UK. h.lachmann@ucl.ac.uk.
authors.forename: Helen J
authors.initials: HJ
authors.lastname: Lachmann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D007223:Infant; D008297:Male; D055815:Young Adult
keywords: Autoinflammation; Cryopyrin associated periodic syndrome (CAPS); Familial Mediterranean Fever (FMF); Interleukin 1 (IL-1); Mevalonate kinase deficiency (MKD); Systemic autoinflammatory syndromes; Tumour necrosis factor receptor associated periodic syndrome (TRAPS)
references.citation: Hum Mutat. 2000 Apr;15(4):385-6
references.pmid: 10737995
references.citation: N Engl J Med. 2009 Jun 4;360(23 ):2416-25
references.pmid: 19494217
references.citation: N Engl J Med. 1986 Apr 17;314(16):1001-5
references.pmid: 3515182
references.citation: Cell. 1997 Aug 22;90(4):797-807
references.pmid: 9288758
references.citation: Eur J Hum Genet. 2010 Jul;18(7):844-7
references.pmid: 20179743
references.citation: Arthritis Rheum. 2003 Apr;48(4):1149-55
references.pmid: 12687559
references.citation: Ann Rheum Dis. 2014 Dec;73(12):2160-7
references.pmid: 23965844
references.citation: Medicine (Baltimore). 2002 Sep;81(5):349-68
references.pmid: 12352631
references.citation: PLoS One. 2013 Jul 03;8(7):e68431
references.pmid: 23844200
references.citation: Orphanet J Rare Dis. 2013 Dec 20;8:196
references.pmid: 24360083
references.citation: Ann Rheum Dis. 2013 May;72(5):678-85
references.pmid: 22753383
references.citation: Am J Med. 1967 Aug;43(2):227-53
references.pmid: 5340644
references.citation: Arthritis Rheum. 1997 Oct;40(10):1879-85
references.pmid: 9336425
references.citation: Clin Immunol. 2013 Jun;147(3):197-206
references.pmid: 23110805
references.citation: Am J Hum Genet. 2000 May;66(5):1693-8
references.pmid: 10741953
references.citation: Pathol Microbiol (Basel). 1961;24:718-23
references.pmid: 13906231
references.citation: Cell. 1999 Apr 2;97(1):133-44
references.pmid: 10199409
references.citation: Arthritis Rheumatol. 2014 Jan;66(1):197-202
references.pmid: 24431285
references.citation: J Rheumatol. 1994 Sep;21(9):1708-9
references.pmid: 7799354
references.citation: Lancet. 1984 May 19;1(8386):1087-90
references.pmid: 6144826
references.citation: Nat Genet. 1999 Jun;22(2):178-81
references.pmid: 10369262
references.citation: Nephrol Dial Transplant. 2002 Nov;17 (11):1921-3
references.pmid: 12401847
references.citation: N Engl J Med. 2003 Jun 19;348(25):2583-4
references.pmid: 12815153
references.citation: Arthritis Rheum. 2004 Feb;50(2):607-12
references.pmid: 14872505
references.citation: N Engl J Med. 1998 Apr 2;338(14):993-4
references.pmid: 9527614
references.citation: QJM. 1997 Oct;90(10):643-7
references.pmid: 9415347
references.citation: Rheumatology (Oxford). 2007 Oct;46(10):1597-600
references.pmid: 17804452
references.citation: Rheumatology (Oxford). 2014 Apr;53(4):665-70
references.pmid: 24352339
references.citation: Am J Hum Genet. 2002 Jul;71(1):198-203
references.pmid: 12032915
references.citation: Ann Rheum Dis. 2015 Nov;74(11):2043-9
references.pmid: 25038238
references.citation: J Rheumatol. 1998 Dec;25(12):2445-9
references.pmid: 9858443
references.citation: Nat Rev Rheumatol. 2014 Mar;10(3):135-47
references.pmid: 24247370
references.citation: J Biol Chem. 2014 Feb 21;289(8):5000-12
references.pmid: 24356959
references.citation: Medicine (Baltimore). 1994 May;73(3):133-44
references.pmid: 8190036
references.citation: Pediatrics. 1993 May;91(5):915-21
references.pmid: 8386351
references.citation: Rheum Dis Clin North Am. 2007 Aug;33(3):585-623
references.pmid: 17936178
references.citation: Hum Mutat. 2003 Oct;22(4):339-40
references.pmid: 12955725
references.citation: Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):9982-7
references.pmid: 16785446
references.citation: Lancet. 1998 Feb 28;351(9103):659-64
references.pmid: 9500348
references.citation: Ann Rheum Dis. 2006 Sep;65(9):1158-62
references.pmid: 16569687
references.citation: Am J Med Genet. 1995 Jan 30;55(3):311-4
references.pmid: 7726228
references.citation: Scand J Rheumatol Suppl. 1987;66:57-68
references.pmid: 3482735
references.citation: Ann Rheum Dis. 2003 Oct;62(10):916-9
references.pmid: 12972465
references.citation: J Pediatr. 2010 Jun;156(6):985-9
references.pmid: 20227729
references.citation: Nat Genet. 1997 Sep;17 (1):25-31
references.pmid: 9288094
references.citation: Nat Rev Immunol. 2012 Jul 25;12(8):570-80
references.pmid: 22828911
references.citation: J Exp Med. 2011 Mar 14;208(3):519-33
references.pmid: 21282379