Deregulated type I IFN response in TREX1-associated familial chilblain lupus

Journal of Investigative Dermatology

Volumn 134, Issue 5, 2014, Pages 1456-1459

  Peschke, Katrin ^a   Friebe, Franziska ^a   Zimmermann, Nick ^a   Wahlicht, Tom ^a   Schumann, Tina ^a   Achleitner, Martin ^a   Berndt, Nicole ^a   Luksch, Hella ^a   Behrendt, Rayk ^a   Lee Kirsch, Min Ae ^a   Roers, Axel ^a   Günther, Claudia ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

3' REPAIR EXONUCLEASE; EXONUCLEASE; GAMMA INTERFERON INDUCIBLE PROTEIN 10; INTERFERON; UNCLASSIFIED DRUG; DNA; MYXOVIRUS RESISTANCE PROTEIN A; TREX1 PROTEIN;

CELL INFILTRATION; CHILBLAIN; CYTOKINE RESPONSE; DISEASE ASSOCIATION; DNA REPAIR; ENZYME ACTIVITY; FAMILIAL CHILBLAIN LUPUS; FAMILIAL DISEASE; HUMAN; INNATE IMMUNITY; LETTER; LUPUS ERYTHEMATOSUS; NONHUMAN; PATHOGENESIS; PROTEIN EXPRESSION; UPREGULATION; AICARDI GOUTIERES SYNDROME; AUTOIMMUNITY; DERMATITIS; GENE EXPRESSION; GENE MUTATION; LUPUS VULGARIS; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS;

ANIMALS; AUTOIMMUNITY; CHILBLAINS; CHILD; EXODEOXYRIBONUCLEASES; HETEROZYGOTE; HUMANS; INTERFERON TYPE I; LUPUS ERYTHEMATOSUS, CUTANEOUS; MICE; MICE, KNOCKOUT; PHOSPHOPROTEINS;

EID: 84900856439     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.496     Document Type: Letter

References (15)

1. Aicardi J, Goutieres F (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49-54
2. Gall A, Treuting P, Elkon KB et al. (2012) Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity 36:120-31
3. Gunther C, Meurer M, Stein A et al. (2009) Familial chilblain lupus-A monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. Dermatology 219:162-6
4. Lee-Kirsch MA, Chowdhury D, Harvey S et al. (2007a) A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med 85:531-7
5. Lee-Kirsch MA, Gong M, Chowdhury D et al. (2007b) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 39:1065-7
6. Lee-Kirsch MA, Gong M, Schulz H et al. (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet 79:731-7
7. Lee-Kirsch MA, Wolf C, Gunther C (2013) Aicardi-Goutieres syndrome: A model disease for systemic autoimmunity. Clin Exp Immunol. e-pub ahead of print 21 June 2013; doi: 10.1111/cei.12160
8. Mazur DJ, Perrino FW (2001) Excision of 3' termini by the Trex1 and TREX2 3'-45' exonucleases. Characterization of the recombinant proteins. J Biol Chem 276:17022-9
9. Morita M, Stamp G, Robins P et al. (2004) Genetargeted mice lacking the Trex1 (DNase III) 3'-45' DNA exonuclease develop inflammatory myocarditis. Mol Cell Biol 24:6719-27
10. Ramantani G, Kohlhase J, Hertzberg C et al. (2010) Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome. Arthritis Rheum 62:1469-77
11. Ravenscroft JC, Suri M, Rice GI et al. (2011) Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A 155A: 235-7
12. Rice G, Newman WG, Dean J et al. (2007) Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet 80:811-5
13. Stetson DB, Ko JS, Heidmann T et al. (2008) Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 134:587-98
14. Wenzel J, Worenkamper E, Freutel S et al. (2005) Enhanced type I interferon signalling promotes Th1-biased inflammation in cutaneous lupus erythematosus. J Pathol 205: 435-42
15. Yang YG, Lindahl T, Barnes DE (2007) Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 131:873-86