Browse > Article
http://dx.doi.org/10.3345/kjp.2009.52.5.611

Familial systemic lupus erythematosus in two Korean male siblings  

Kang, Hyun Sik (Department of Pediatrics, Cheju National University School of Medicine)
Oh, Hyun Ju (Department of Pediatrics, Cheju National University School of Medicine)
Kim, Young Ree (Department of Laboratory Medicine, Cheju National University School of Medicine)
Kim, Jae-Wang (Department of Dermatology, Cheju National University School of Medicine)
Shin, Kyung-Sue (Institute of Medical Science, Cheju National University)
Publication Information
Clinical and Experimental Pediatrics / v.52, no.5, 2009 , pp. 611-614 More about this Journal
Abstract
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease characterized by the production of a wide range of autoantibodies, resulting in tissue damage. Although the susceptibility to SLE has been attributed to complex interactions between genetic and environmental factors, the influence of a genetic predisposition to SLE is supported by observations of familial aggregations. Family studies have found that siblings with an SLE-affected relative have a 20-fold higher risk of developing SLE compared with the general population. Here, we present a rare case of two male siblings with SLE. The clinical, laboratory, and histopathological findings of these individuals showed the characteristic features of SLE. Human leukocyte antigen (HLA) typing revealed that the brothers and their mother shared the common HLA haplotype of DRB1*1501 and DQB1*0602, which is significantly associated with disease susceptibility in both family-based and casecontrol studies. This report provides an opportunity to reveal the role of genetic factors in the development of SLE.
Keywords
Familial systemic lupus erythematosus; Children; Male; Sibling; Human leukocyte antigen;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Brunner HI, Freedman M, Silverman ED. Close relationship between systemic lupus erythematosus and thrombotic thrombocytopenic purpura in childhood. Arthritis Rheum 1999;42:2346-55   DOI   ScienceOn
2 Lee SG, Cha HS, Yang YS. The association of HLA-DRB1 and DQB1 alleles and a study of anticardiolipin antibody and Anti-β2 glycoprotein I antibody in Korean SLE patients. Immune Network 2002;2:227-32
3 Stevens AM, Tsao BP, Hahn BH, Guthrie K, Lambert NC, Porter AJ, et al. Maternal HLA class II compatibility in men with systemic lupus erythematosus. Arthritis Rheum 2005;52: 2768-73   DOI   ScienceOn
4 Scofield RH, Bruner GR, Kelly JA, Kilpatrick J, Bacino D, Nath SK, Harley JB. Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13. Blood 2003;101: 992-7   DOI   ScienceOn
5 Lawrence JS, Martins L, Drake G. A family survey of lupus erythematosus. J Rheumatol 1987;2:913-7
6 Petty RE, Laxer RM. Systemic lupus erythematosus. In: Cassidy JT, Petty RE, Laxer RM, Lindsley CB, editors, Textbook of Pediatric Rheumatology. 5th ed. Philadelphia: Elsevier Saunders, 2005;342-91
7 Miller MH, Urowitz MB, Gladman DD. The significance of thrombocytopenia in systemic lupus erythematosus. Arthritis Rheum 1983; 26:1181-6   DOI   ScienceOn
8 Kwak TH, Lee MW, Choi JS, Kim KH. Familial lupus erythematosus occurred in mother and son. Korean J Dermatol 1995;33:950-5
9 Deapen D, Escalante A. Weinrib L, Horwitz D, Bachman B, Roy-Burman P, et al. A revised estimate of twin concordance in systemic erythematosus. Arthritis Rheum 1992;35: 311-8   DOI   ScienceOn
10 Vyse TJ, Kotzin BL. Genetic basis of systemic lupus erythematosus. Curr Opin Immunol 1996;8:843-51   DOI   ScienceOn
11 Lee Hs, Chung YH, Kim TG, Kim TH, Jun JB, Jung S, et al. Independent association of HLA-DR and FC receptor polymorphisms in Korean patients with systemic lupus erythematosus. Rheumatology 2003;42:1501-7   DOI   ScienceOn
12 Michel M, Johanet C, Meyer O, Frances C, Wittke F, Michel C, et al. Familial lupus erythematosus; Clinical and immunologic features of 125 multiplex families. Medicine 2001;80: 153-8   DOI   ScienceOn
13 Graham RR, Ortmann WA, Langefeld CD, Jawaheer D, Selby SA, Rodine PR, et al. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet 2002;71:543-53   DOI   ScienceOn
14 Kawasaki Y, Suzuki J, Sike T, Nozawa R, Suzuki S, Suzuki H. A boy with systemic lupus erythematosus (SLE) suggesting a familial predisposition for SLE. Pediatr Int 2001; 43:417-9   DOI   ScienceOn
15 Hochberg MC. The application of genetic epidemiology to systemic lupus erythematosus. J Rheumatol 1987;14:867-9   PUBMED
16 Graham RR, Ortmann W, Rodine P, Espe K, Langefeld C, Lange E, et al. Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE. Eur J Hum Genet 2007;15:823-30   DOI   ScienceOn
17 Park JH, Cho DY, Kim SJ, Lee SC, Won YH, Chun IK. Familial systemic lupus erythematosus developed in two sisters. Korean J Dermatol 1997;35:1220-4