The combination of complement deficiency and cigarette smoking as risk factor for cutaneous lupus erythematosus in men; a focus on combined C2/C4 deficiency

British Journal of Dermatology

Volumn 152, Issue 2, 2005, Pages 265-270

  Boeckler, P ^a   Milea, M ^a   Meyer, A ^a   Uring Lambert, B ^a   Heid, E ^a   Hauptmann, G ^a   Cribier, B ^a   Lipsker, D ^a  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

C2; C4; Cigarette smoking; Combined complement deficiency; Complement deficiency; Lupus erythematosus

Indexed keywords

COMPLEMENT COMPONENT C2; COMPLEMENT COMPONENT C4;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; CHILD; CIGARETTE SMOKING; CLINICAL FEATURE; COMORBIDITY; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; DISCOID LUPUS ERYTHEMATOSUS; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; MEDICAL RECORD; PRIORITY JOURNAL; RISK FACTOR; SCREENING TEST; SEX DIFFERENCE; SEX RATIO; UNIVERSITY HOSPITAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; COMPLEMENT C2; COMPLEMENT C4; FEMALE; HUMANS; LUPUS ERYTHEMATOSUS, CUTANEOUS; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES; RISK FACTORS; SMOKING;

EID: 14844282733     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2004.06308.x     Document Type: Article

References (42)

1. Schur PH. Genetics of complement deficiencies associated with lupus-like syndromes. Arthritis Rheum 1978; 21 (5 Suppl.):S153-60.
2. Hauptmann G. Frequencies of complement deficiences in man, disease associations and chromosome assignment of complement genes and linkage groups. A summary of the data from the literature. Complement Inflamm 1989; 6:74-80.
3. Sullivan KE, Winkelstein JA. Genetically determined deficiencies of the complement system. In: Primary immunodeficiences Diseases. A Molecular and Genetic Approach (Ochs HD, Smith CIE, Puck JM, eds). New York: Oxford University Press, 1999; 397-416.
4. Sullivan KE. Complement deficiency and autoimmunity. Curr Opin Pediatr 1998; 10:600-6.
5. Naves M, Hajeer AH, Teh LS et al. Complement C4B null allele status confers risk for systemic lupus erythematosus in a Spanish population. Eur J Immunogenet 1998; 25:317-20.
6. Fielder AHL, Walport MJ, Batchelor JR et al. Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of nul alleles C4A and C4B in determining disease susceptibility. BMJ 1983; 286:425-8.
7. Howard PF, Hochberg MC, Bias WB et al. Relationship between C4 null genes, HLA-D region antigens, and genetic susceptibility to lupus erythematosus in Caucasians and black Americans. Am J Med 1986; 81:187-93.
8. Petri M, McLean RH, Watson R, Winckelstein JA. Clinical expression of systemic lupus erythematosus in patients with C4A deficiency. Medicine 1993; 72:236-44.
9. Ratnoff WD. Inherited C2 deficiency of complement in rheumatic diseases. Rheum Clin North Am 1996; 22:75-94.
10. Volanakis JE, Yamauchi Y, Ishii Y. Structure, polymorphism, and regulation of expression of the C2 gene. Complement Today 1993; 1:5-15.
11. Glass G, Raum D, Gibson D et al. Inherited deficiency of the second component of complement. Rheumatic disease association. J Clin Invest 1976; 58:853-61.
12. Johnson CA, Densen P, Hurford RK et al. Type I human complement C2 deficiency. A 28-base-pair gene deletion causes skipping of exon 6 during RNA splicing. J Biol Chem 1992; 13:9347-53.
13. Truedsson L, Sturfelt G, Nived O. Prevalence of type I complement C2 deficiency gene in Swedish systemic lupus erythematosus patients. Lupus 1993; 2:325-7.
14. Sullivan KE, Petri MA, Schmeckpeper J et al. Prevalence of a mutation causing C2 deficiency in systemic lupus erythematosus. J Rheumatol 1994; 21:1128-33.
15. Yang Y, Chung EK, Zhou B et al. The intricate role of complement component C4 in human systemic lupus erythematous. Curr Dir Autoimmun 2004; 7:98-132.
16. Ghaussy NO, Sibbitt W Jr, Bankhurst AD, Quails CR. Cigarette smoking and disease activity in systemic lupus erythematosus. J Rheumatol 2003; 30:1215-21.
17. Taieb A, Hehunstre JP, Goetz J et al. Lupus erythematosus panniculitis with partial genetic deficiency of C2 and C4 in a child. Arch Dermatol 1986; 122:576-82.
18. Tan EM, Cohen AS, Fries JF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25:1271-7.
19. Sontheimer RD, Thomas JR, Gilliam JN. Subacute cutaneous lupus erythematosus. Arch Dermatol 1979; 115:1409-15.
20. Sim E, Cross SJ. Phenotyping of human complement component C4, a class III HLA antigen. Biochem J 1986; 239:763-7.
21. Alper CA, Boentsch T, Watson L. Genetic polymorphism in human glycine-rich beta-glycoprotein. J Exp Med 1972; 135:68-80.
22. Welsh K, Bunce M. Molecular typing for the MHC with PCR-SSP. Rev Immunogenet 1999; 1:157-76.
23. Fan Q, Uring-Lambert B, Weill B et al. Complement component C4 deficiences and gene alterations in patients with systemic lupus erythematosus. Eur J Immunogenet 1993; 20:11-21.
24. Cornillet P, Pennaforte JL, Philbert F et al. Complement C4 gene deletion in patients with systemic lupus erythematosus in France. J Rheumatol 1993; 20:1633-4.
25. Hartmann D, Fremeaux-Bacchi V, Weiss L et al. Combined heterozygous deficiency of the classical complement pathway proteins C2 and C4. J Immunol 1997; 17:176-84.
26. Venneker GT, Van Meegen M, de Kok-Nazaruk M et al. Incomplete functional deficiencies of the fourth (C4) and the second (C2) components of the complement in a patient with linear frontoparietal scleroderma and his family. Deficiences determined by a gene not linked to human leukocyte antigen system. Exp Clin Immunogenet 1996; 13:104-11.
27. Truedsson L, Alper CA, Awdeh ZL et al. Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complotype/HLA-B-region and absence of disease association due to linked class II genes. J Immunol 1993; 151:5856-63.
28. Dawkins R, Leelayuvat Ch, Gaudieri S et al. Genomics of the major histocompatibility complex: haplotypes, duplication, retroviruses and disease. Immunol Rev 1999; 167:275-304.
29. Graham RR, Ortmann WA, Langefeld CD et al. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet 2002; 71:543-53.
30. Kemp ME, Atkinson JP, Skanes VM et al. Deletion of C4A genes in patients with systemic lupus erythematosus. Arthritis Rheum 1987; 30:1015-22.
31. Manderson AP, Botto M, Walport MJ. The role of complement in the development of systemic lupus erythematosus. Annu Rev Immunol 2004; 22:431-56.
32. Arnaiz-Villena A, Lopez-Larrea C, Leyva-Cobian F, Gil AB. Genetic independence between HLA and the first component (C1q) of complement. Transplantation 1981; 31:139-40.
33. Racila DM, Sontheimer CJ, Sheffield A et al. Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus. Lupus 2003; 12:124-32.
34. Carroll MC. The role of complement in B cell activation and tolerance. Adv Immunol 2000; 74:61-88.
35. Gommerman JL, Carroll MC. Negative selection of B lymphocytes: a novel role for innate immunity. Immunol Rev 2000; 173: 120-30.
36. Rosen A, Casciola-Rosen L, Ahearn J. Novel packages of viral and self-antigens are generated during apoptosis. J Exp Med 1995; 181:1557-61.
37. Mevorach D, Zhou JL, Song X, Elkon KB. Systemic exposure to irradiated apoptotic cells induces autoantibody production. J Exp Med 1998; 188:387-92.
38. Mevorach D, Mascarenhas JO, Gershov D, Elkon KB. Complement-dependent clearance of apoptotic cells by human macrophages. J Exp Med 1998; 188:2313-20.
39. Carroll MC. The lupus paradox. Nature Gen 1998; 19:3-4.
40. Fornica MK, Palmer JR, Rosenberg L, McAlindon TE. Smoking, alcohol consumption, and risk for systemic lupus erythematosus in Black Women's Health Study. J Rheumatol 2003; 30:1222-6.
41. Jewell ML, McCauliffe DP. Patients with cutaneous lupus erythematosus who smoke are less responsive to antimalarial treatment. J Acad Dermatol 2000; 42:983-7.
42. Josseran L, Raffin J, Dautzenberg B, Brücker G. Connaissances, opinions et consommation de tabac au sein d'une faculté de médecine française. Presse Med 2003; 32:1883-6.