Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.
Arthritis
/ complications
Cryopyrin-Associated Periodic Syndromes
/ complications
Familial Mediterranean Fever
/ complications
Hereditary Autoinflammatory Diseases
/ complications
Humans
Immunologic Deficiency Syndromes
/ genetics
Interferons
/ genetics
Interleukin 1 Receptor Antagonist Protein
/ genetics
Interleukin-1
/ genetics
Interleukin-18
/ genetics
Phospholipase C gamma
/ genetics
Sarcoidosis
/ complications
Skin Diseases, Genetic
/ genetics
Synovitis
/ complications
Uveitis
/ complications
genetics
interferon
interleukin-1
autoinflammatory
Journal
Acta dermato-venereologica
ISSN: 1651-2057
Titre abrégé: Acta Derm Venereol
Pays: Sweden
ID NLM: 0370310
Informations de publication
Date de publication:
25 Mar 2020
25 Mar 2020
Historique:
pubmed:
10
3
2020
medline:
13
1
2021
entrez:
10
3
2020
Statut:
ppublish
Résumé
Autoinflammatory diseases comprise a group of chronic disabling entities characterized by inflammation without the presence of infectious agents, auto-antibodies or antigen-specific T-cells. Many autoinflammatory diseases are caused by monogenic defects, which lead to disturbed immune signalling with release of proinflammatory mediators. In addition to interleukin-1β and interleukin-18, interferons play a key role in the pathophysiology of these disorders. Patients with autoinflammatory diseases show a broad variety of clinical symptoms, including skin involvement. Wheals, pustules and ulcerative lesions are the most common cutaneous findings observed. Knowledge of the clinical presentation of autoinflammatory diseases is crucial for establishing the diagnosis and guiding appropriate treatment. This review focuses on the dermatological findings in selected autoinflammatory disorders based on their distinct pathomechanisms.
Identifiants
pubmed: 32147748
doi: 10.2340/00015555-3427
pmc: PMC9128980
doi:
Substances chimiques
Interleukin 1 Receptor Antagonist Protein
0
Interleukin-1
0
Interleukin-18
0
Interferons
9008-11-1
PLCG2 protein, human
EC 3.1.4.3
Phospholipase C gamma
EC 3.1.4.3
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
adv00091Références
J Invest Dermatol. 2015 Dec;135(12):2964-2970
pubmed: 26203641
Clin Immunol. 2012 Oct;145(1):77-81
pubmed: 22940634
Am J Hum Genet. 2012 Oct 5;91(4):713-20
pubmed: 23000145
N Engl J Med. 2009 Jun 4;360(23):2438-44
pubmed: 19494219
JAMA Dermatol. 2015 Jun;151(6):627-34
pubmed: 25760457
Arthritis Rheum. 2007 Nov;56(11):3805-13
pubmed: 17968944
Nat Immunol. 2008 Oct;9(10):1171-8
pubmed: 18724372
Nat Immunol. 2010 Oct;11(10):897-904
pubmed: 20835230
Arthritis Rheum. 2011 Dec;63(12):4018-22
pubmed: 21792839
Ann Rheum Dis. 2018 Aug;77(8):1241-1243
pubmed: 28866646
Science. 1997 Jan 10;275(5297):206-9
pubmed: 8999548
J Am Acad Dermatol. 2010 Mar;62(3):489-95
pubmed: 20159315
Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14914-9
pubmed: 21852578
Arthritis Rheum. 2008 Aug;58(8):2443-52
pubmed: 18668535
Pediatr Dermatol. 2011 Sep-Oct;28(5):538-41
pubmed: 20553399
Blood. 2000 May 15;95(10):3223-31
pubmed: 10807793
Pediatr Dermatol. 2016 Nov;33(6):602-614
pubmed: 27699831
Nature. 2011 Sep 14;477(7366):596-600
pubmed: 21918512
Arthritis Rheum. 2007 Apr;56(4):1273-1285
pubmed: 17393462
Immunity. 2013 Dec 12;39(6):1003-18
pubmed: 24332029
Medicine (Baltimore). 2009 Jan;88(1):23-31
pubmed: 19352297
Nat Genet. 2014 Oct;46(10):1140-6
pubmed: 25217959
Arthritis Rheum. 2009 Jan;60(1):242-50
pubmed: 19116920
J Clin Invest. 2014 Dec;124(12):5516-20
pubmed: 25401470
J Allergy Clin Immunol. 2016 Oct;138(4):984-1010
pubmed: 27577879
Infect Immun. 2005 Apr;73(4):1907-16
pubmed: 15784530
N Engl J Med. 2006 Aug 10;355(6):581-92
pubmed: 16899778
Nat Genet. 1997 Sep;17(1):25-31
pubmed: 9288094
Nature. 2006 Mar 9;440(7081):237-41
pubmed: 16407889
Arthritis Rheum. 2006 Oct;54(10):3337-44
pubmed: 17009307
Biochem J. 2007 Jun 1;404(2):179-90
pubmed: 17348859
J Eur Acad Dermatol Venereol. 2020 Feb;34(2):340-348
pubmed: 31541486
J Invest Dermatol. 2016 Nov;136(11):2251-2259
pubmed: 27388993
J Invest Dermatol. 2013 Nov;133(11):2514-2521
pubmed: 23698098
Rheumatology (Oxford). 2009 Apr;48(4):395-8
pubmed: 19193696
Pediatr Rheumatol Online J. 2019 Jul 8;17(1):37
pubmed: 31286990
J Am Acad Dermatol. 2000 May;42(5 Pt 1):791-5
pubmed: 10775856
Br J Dermatol. 2004 Jul;151(1):99-104
pubmed: 15270877
Front Immunol. 2016 Sep 20;7:367
pubmed: 27703457
Cell Host Microbe. 2015 Aug 12;18(2):157-68
pubmed: 26235147
Nature. 2013 Jan 31;493(7434):674-8
pubmed: 23254930
Arthritis Rheumatol. 2017 Feb;69(2):447-459
pubmed: 27788288
J Exp Med. 1987 Nov 1;166(5):1229-44
pubmed: 2960769
Discov Med. 2013 Sep;16(87):123-31
pubmed: 23998448
N Engl J Med. 2014 Aug 7;371(6):507-518
pubmed: 25029335
Am J Med Genet. 1995 Jan 30;55(3):311-4
pubmed: 7726228
Nat Med. 2015 Mar;21(3):248-55
pubmed: 25686105
Blood. 2004 Apr 1;103(7):2809-15
pubmed: 14630794
J Inflamm (Lond). 2015 Jul 02;12:41
pubmed: 26136643
N Engl J Med. 2019 Mar 7;380(10):981-983
pubmed: 30855749
Semin Arthritis Rheum. 1991 Feb;20(4):241-6
pubmed: 2042056
J Eur Acad Dermatol Venereol. 2015 Oct;29(10):2054-6
pubmed: 24910924
Cell Death Differ. 2007 Sep;14(9):1590-604
pubmed: 17599095
Arthritis Rheum. 2013 Feb;65(2):513-8
pubmed: 23124805
J Med Case Rep. 2015 Jun 23;9:145
pubmed: 26100510
Proc Natl Acad Sci U S A. 1984 Dec;81(24):7907-11
pubmed: 6083565
J Dermatol. 2018 Oct;45(10):e280-e281
pubmed: 29665114
N Engl J Med. 2011 Aug 18;365(7):620-8
pubmed: 21848462
J Exp Med. 2009 May 11;206(5):1037-46
pubmed: 19364881
N Engl J Med. 2009 Jun 4;360(23):2416-25
pubmed: 19494217
J Clin Invest. 2018 Jul 2;128(7):3041-3052
pubmed: 29649002
Genes Immun. 2013 Jun;14(4):212-6
pubmed: 23466494
Neth J Med. 2007 Oct;65(9):318-24
pubmed: 17954950
Arthritis Rheum. 2002 Nov;46(11):3041-5
pubmed: 12428248
Semin Immunopathol. 2007 Sep;29(3):303-13
pubmed: 17805542
J Rheumatol. 1998 Dec;25(12):2445-9
pubmed: 9858443
Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3076-80
pubmed: 20133635
J Clin Invest. 2015 Nov 2;125(11):4196-211
pubmed: 26524591
FEBS Lett. 1989 Apr 24;247(2):386-90
pubmed: 2653864
J Inflamm Res. 2015 Jan 16;8:15-27
pubmed: 25653548
Nat Genet. 2001 Sep;29(1):19-20
pubmed: 11528384
Nat Genet. 2001 Nov;29(3):301-5
pubmed: 11687797
RMD Open. 2015 Jul 20;1(1):e000097
pubmed: 26509073
Nat Genet. 2014 Oct;46(10):1135-1139
pubmed: 25217960
Eur J Rheumatol. 2014 Mar;1(1):21-33
pubmed: 27708867
J Rheumatol. 2005 Feb;32(2):373-5
pubmed: 15693102
N Engl J Med. 2009 Jun 4;360(23):2426-37
pubmed: 19494218
Allergy. 2012 Dec;67(12):1465-74
pubmed: 22978406
Ann Rheum Dis. 2013 May;72(5):678-85
pubmed: 22753383
Immunity. 2004 Mar;20(3):319-25
pubmed: 15030775
Cell Host Microbe. 2014 Jun 11;15(6):792-8
pubmed: 24882705
J Biol Chem. 2003 Mar 14;278(11):8869-72
pubmed: 12527755
J Rheumatol. 2003 Sep;30(9):2011-3
pubmed: 12966607
Z Rheumatol. 2017 May;76(4):303-312
pubmed: 28154935
J Allergy Clin Immunol. 2017 May;139(5):1698-1701
pubmed: 27876626
JAMA Dermatol. 2017 May 1;153(5):473-475
pubmed: 28241175
Immunol Rev. 2018 Mar;282(1):265-275
pubmed: 29431217
Lancet. 1998 Feb 28;351(9103):659-64
pubmed: 9500348
Semin Immunopathol. 2015 Jul;37(4):377-85
pubmed: 25963520
J Clin Immunol. 2015 Aug;35(6):527-30
pubmed: 26206677
J Clin Invest. 2011 Oct;121(10):4150-60
pubmed: 21881205
Cell. 1999 Apr 2;97(1):133-44
pubmed: 10199409
Dermatology. 2013;226(1):28-31
pubmed: 23428889
Q J Med. 1990 Jun;75(278):607-16
pubmed: 2217666
Am J Hum Genet. 2002 Jul;71(1):198-203
pubmed: 12032915
Nature. 2012 Oct 25;490(7421):539-42
pubmed: 22885697
Nat Immunol. 2006 Jun;7(6):569-75
pubmed: 16648853
Immunol Cell Biol. 2012 May;90(5):474-82
pubmed: 22450802
Arthritis Rheum. 2012 Mar;64(3):895-907
pubmed: 21953331
Arch Med Sci. 2016 Oct 1;12(5):950-958
pubmed: 27695484
Dev Comp Immunol. 2004 May 3;28(5):415-28
pubmed: 15062641
J Invest Dermatol. 2004 Mar;122(3):851-2
pubmed: 15086578
Am J Hum Genet. 2010 Dec 10;87(6):866-72
pubmed: 21129723
PLoS One. 2012;7(11):e49408
pubmed: 23226210
Br J Dermatol. 2017 Jan;176(1):244-248
pubmed: 27203668
Arthritis Rheumatol. 2015 Feb;67(2):563-7
pubmed: 25418813
Lancet. 2004 Nov 13-19;364(9447):1779-85
pubmed: 15541451
Am J Dermatopathol. 2015 Jul;37(7):517-22
pubmed: 26091509
Rheumatol Int. 2018 Jan;38(1):13-24
pubmed: 29032440
Rheumatol Int. 2016 Apr;36(4):483-7
pubmed: 26712372
APMIS. 2006 Dec;114(12):912-9
pubmed: 17207093
Rheumatology (Oxford). 2015 Jun;54(6):1008-16
pubmed: 25416713
Br J Dermatol. 2010 Dec;163(6):1351-3
pubmed: 20716212
Nat Immunol. 2006 Jun;7(6):576-82
pubmed: 16648852
JAAD Case Rep. 2018 Feb 02;4(2):192-195
pubmed: 29892664
Front Immunol. 2019 Apr 12;10:763
pubmed: 31031761
Immunity. 2011 May 27;34(5):755-68
pubmed: 21600797
Am J Hum Genet. 2014 May 1;94(5):790-7
pubmed: 24791904
Nature. 2008 Oct 2;455(7213):674-8
pubmed: 18724357
Arthritis Rheum. 2007 May;56(5):1706-12
pubmed: 17469185
N Engl J Med. 2012 Jan 26;366(4):330-8
pubmed: 22236196
Am J Med. 1967 Aug;43(2):227-53
pubmed: 5340644
Arthritis Rheum. 2004 Nov;50(11):3679-89
pubmed: 15529356
Ann Rheum Dis. 2018 Dec;77(12):e88
pubmed: 29259046
J Allergy Clin Immunol. 2017 Apr;139(4):1396-1399.e12
pubmed: 28041677
J Allergy Clin Immunol. 2001 Oct;108(4):615-20
pubmed: 11590390
Arthritis Rheum. 2011 Dec;63(12):4007-17
pubmed: 22127713
Nature. 1990 Jan 25;343(6256):336-40
pubmed: 2137200
Curr Opin Struct Biol. 2014 Dec;29:17-25
pubmed: 25201319
Ann Rheum Dis. 2016 Apr;75(4):644-51
pubmed: 26802180
J Clin Immunol. 2017 Jul;37(5):445-451
pubmed: 28503715
J Rheumatol. 2007 Sep;34(9):1945-7
pubmed: 17787056
Trends Biochem Sci. 1997 May;22(5):155-6
pubmed: 9175472
Cell. 1997 Aug 22;90(4):797-807
pubmed: 9288758
Proc Natl Acad Sci U S A. 2010 May 25;107(21):9789-94
pubmed: 20445104