| Familial systemic lupus erythematosus in two Korean male siblings |
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Hyun Sik Kang1, Hyun Ju Oh1, Young Ree Kim2, Jae-Wang Kim3, Kyung-Sue Shin1 |
1Department of Pediatrics, Cheju National University School of Medicine, Jeju, Korea
2Department of Laboratory Medicine, Cheju National University School of Medicine, Jeju, Korea
3Department of Dermatology, Cheju National University School of Medicine, Jeju, Korea |
| 형제에서 발병한 가족성 전신 홍반 루푸스 |
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강현식1, 오현주1, 김영리2, 김재왕3, 신경수1 |
1제주대학교 의학전문대학원 소아과학교실
2제주대학교 의학전문대학원 진단검사의학교실
3제주대학교 의학전문대학원 피부과학교실 |
Correspondence:
Kyung-Sue Shin, Email: kyungsue@jeju.ac.kr
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| Abstract |
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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. |
| Key Words:
Familial systemic lupus erythematosus, Children, Male, Sibling, Human leukocyte antigen |
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