Monogenic lupus

International Journal of Clinical Rheumatology

Volumn 9, Issue 6, 2014, Pages 543-546

  Lo, Mindy S ^a   Tsokos, George C ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

chilblain; complement; DNASE1L3; immunodeficiency; lupus; Mendelian; monogenic; PRKCD; systemic lupus erythematosus; TREX1

Indexed keywords

ALPHA INTERFERON; COMPLEMENT COMPONENT C1Q;

AICARDI GOUTIERES SYNDROME; APOPTOSIS; COMPLEMENT DEFICIENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MONOGENIC DISORDER; PATHOGENESIS; PHENOTYPE; RECURRENCE RISK; REVIEW; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

EID: 84919796350     PISSN: 17584272     EISSN: 17584280     Source Type: Journal    
DOI: 10.2217/ijr.14.50     Document Type: Review

References (27)

1. Tsokos GC. Systemic lupus erythematosus. N. Engl. J. Med. 365(22), 2110-2121 (2011).
2. Taylor KE, Chung SA, Graham RR et al. Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes. PLoS Genet. 7(2), e1001311 (2011).
3. Harley JB, Alarcon-Riquelme ME, Criswell LA et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat. Genet. 40(2), 204-210 (2008).
4. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 461(7265), 747-753 (2009).
5. Moncada B, Day NK, Good RA, Windhorst DB. Lupus erythematosus-like syndrome with a familial defect of complement. N. Engl. J. Med. 286(13), 689-693 (1972).
6. Barilla-Labarca ML, Atkinson JP. Rheumatic syndromes associated with complement deficiency. Curr. Opin. Rheumatol. 15(1), 55-60 (2003).
7. Kallel-Sellami M, Baili-Klila L, Zerzeri Y et al. Pediatric systemic lupus erythematosus with C1q deficiency. Ann. NY Acad. Sci. 1108, 193-196 (2007).
8. Wahl R, Meo T, Shreffler D et al. C2 deficiency and a lupus erythematosus-like illness: family re-evaluation. Ann. Intern. Med. 90(4), 717-718 (1979).
9. Kemp ME, Atkinson JP, Skanes VM, Levine RP, Chaplin DD. Deletion of C4A genes in patients with systemic lupus erythematosus. Arthritis Rheum. 30(9), 1015-1022 (1987).
10. Lee-Kirsch MA, Gong M, Chowdhury D et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat. Genet. 39(9), 1065-1067 (2007).
11. Rieux-Laucat F, Le Deist F, Hivroz C et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268(5215), 1347-1349 (1995).
12. Xiang N, Li XM, Wang GS, Tao JH, Li XP. Association of Fas gene polymorphisms with systemic lupus erythematosus: a meta-analysis. Mol. Biol. Rep. 40(1), 407-415 (2013).
13. Wu J, Wilson J, He J, Xiang L, Schur PH, Mountz JD. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J. Clin. Invest. 98(5), 1107-1113 (1996).
14. Yasutomo K, Horiuchi T, Kagami S et al. Mutation of DNASE1 in people with systemic lupus erythematosus. Nat. Genet. 28(4), 313-314 (2001).
15. Al-Mayouf SM, Sunker A, Abdwani R et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat. Genet. 43(12), 1186-1188 (2011).
16. Ramantani G, Hausler M, Niggemann P et al. Aicardi-Goutieres syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations. J. Child Neurol. 26(11), 1425-1428 (2011).
17. Liu Y, Jesus AA, Marrero B et al. Activated STING in a vascular and pulmonary syndrome. N. Engl. J. Med. 371(6), 507-518 (2014).
18. Belot A, Kasher PR, Trotter EW et al. Protein kinase cdelta deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum. 65(8), 2161-2171 (2013).
19. Briggs TA, Rice GI, Daly S et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat. Genet. 43(2), 127-131 (2011).
20. Walter JE, Lo MS, Kis-Toth K et al. Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis. J. Allergy Clin. Immunol. pii:S0091-6749(14)01201-9 (2014).
21. Crow YJ, Hayward BE, Parmar R et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat. Genet. 38(8), 917-920 (2006).
22. Lee-Kirsch MA, Chowdhury D, Harvey S et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J. Mol. Med. (Berl.) 85(5), 531-537 (2007).
23. Namjou B, Kothari PH, Kelly JA et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun. 12(4), 270-279 (2011).
24. Gall A, Treuting P, Elkon KB et al. Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity 36(1), 120-131 (2012).
25. Okada Y, Plenge RM. Editorial: entering the age of wholeexome sequencing in rheumatic diseases: novel insights into disease pathogenicity. Arthritis Rheum. 65(8), 1975-1979 (2013).
26. Ellyard JI, Jerjen R, Martin JL et al. Whole exome sequencing in early-onset cerebral SLE identifies a pathogenic variant in TREX1. Arthritis Rheumatol. doi:10.1002/art.38824 (2014) (Epub ahead of print).
27. Yamashiro K, Tanaka R, Li Y, Mikasa M, Hattori N. A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. J. Neurol. 260(10), 2653-2655 (2013).