Chilblain lupus erythematosus

Skin Manifestations in Rheumatic Disease

Volumn , Issue , 2014, Pages 13-19

  Lee Kirsch, Min Ae ^a   Aringer, Martin ^a   Kuhn, Annegret ^b  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84956669478     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4614-7849-2_2     Document Type: Chapter

References (21)

1. Kuhn A, et al. Clinical manifestations of cutaneous lupus erythematosus. In: Kuhn A, Lehmann P, Ruzicka T, editors. Cutaneous lupus erythematosus. Heidelberg: Springer 2004. pp. 59-92
2. Lee-Kirsch MA, et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet. 2006;79:731-7.
3. Lee-Kirsch MA, et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med. 2007;85:531-7.
4. Rice G, et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant aicardi-goutières syndrome. Am J Hum Genet. 2007;80:811-5.
5. Franceschini F, et al. Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. Lupus. 1999;8:215-9.
6. Millard LG, et al. Chilblain lupus erythematosus (Hutchinson). A clinical and laboratory study of 17 patients. Br J Dermatol. 1978;98:497-506.
7. Gunther C, et al. Familial chilblain lupus-a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. Dermatology. 2009;219:162-6.
8. Rustin MH, et al. The treatment of chilblains with nifedipine: the results of a pilot study, a double-blind placebo-controlled randomized study and a long-term open trial. Br J Dermatol. 1989;120:267-75.
9. Goette DK. Chilblains (perniosis). J Am Acad Dermatol. 1990;23:257-62.
10. Kuhn A, et al. Clinical manifestations in cutaneous lupus erythematosus. J Dtsch Dermatol Ges. 2007;5:1124-37.
11. Viguier M, et al. Clinical and histopathologic features and immunologic variables in patients with severe chilblains. A study of the relationship to lupus erythematosus. Medicine (Baltimore). 2001;80:180-8.
12. Lee-Kirsch MA, et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007;39:1065-7.
13. Lee-Kirsch MA. Nucleic acid metabolism and systemic autoimmunity revisited. Arthritis Rheum. 2010;62:1208-12.
14. Crow YJ, et al. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet. 2000;67:213-21.
15. Ramantani G, et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi- Goutières syndrome. Arthritis Rheum. 2010;62:1469-77.
16. Stetson DB, et al. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell. 2008;134:587-98.
17. Yang YG, et al. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell. 2007;131:873-86.
18. Deininger PL, et al. Mobile elements and mammalian genome evolution. Curr Opin Genet Dev. 2003;13:651-8.
19. Yanai H, et al. Regulation of the cytosolic DNA-sensing system in innate immunity: a current view. Curr Opin Immunol. 2009;21:17-22.
20. Ronnblom L, et al. Type I interferon and lupus. Curr Opin Rheumatol. 2009;21:471-7.
21. Richards A, et al. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39:1068-70.