OBJECTIVE: To evaluate an unusual pedigree with 8 members diagnosed with systemic lupus erythematosus (SLE) METHODS: Pedigree members were evaluated through questionnaires, interviews, and medical records. Sixty members contributed serum samples for autoantibody analysis. RESULTS: The 8 affected females shared several disease features, including arthritis (8/8), antinuclear antibodies (ANA) (8/8), pleuritis (6/8), malar rash (6/8), photosensitivity (5/8), and nephritis (4/8). A total of 15 of 51 (29%) blood relatives had autoantibodies; 9 had autoimmune disease, including 7 with SLE, one with psoriasis, and one with Sjögren's syndrome. Five of 11 (45%) nonconsanguineous spouses also had autoantibodies; one spouse had SLE, and 2 others had thyroid disease. Among 68 spouses of patients with SLE in other pedigrees, only 9 (13%) had autoantibodies, and none were symptomatic (p = 0.02). CONCLUSION: The high rate of autoimmunity among both blood relatives and nonconsanguineous mates in this unusual pedigree suggests a complex interaction of genetic and environmental factors contributing to disease.
OBJECTIVE: To evaluate an unusual pedigree with 8 members diagnosed with systemic lupus erythematosus (SLE) METHODS: Pedigree members were evaluated through questionnaires, interviews, and medical records. Sixty members contributed serum samples for autoantibody analysis. RESULTS: The 8 affected females shared several disease features, including arthritis (8/8), antinuclear antibodies (ANA) (8/8), pleuritis (6/8), malar rash (6/8), photosensitivity (5/8), and nephritis (4/8). A total of 15 of 51 (29%) blood relatives had autoantibodies; 9 had autoimmune disease, including 7 with SLE, one with psoriasis, and one with Sjögren's syndrome. Five of 11 (45%) nonconsanguineous spouses also had autoantibodies; one spouse had SLE, and 2 others had thyroid disease. Among 68 spouses of patients with SLE in other pedigrees, only 9 (13%) had autoantibodies, and none were symptomatic (p = 0.02). CONCLUSION: The high rate of autoimmunity among both blood relatives and nonconsanguineous mates in this unusual pedigree suggests a complex interaction of genetic and environmental factors contributing to disease.
Authors: Christopher J Lessard; John A Ice; Indra Adrianto; Graham B Wiley; Jennifer A Kelly; Patrick M Gaffney; Courtney G Montgomery; Kathy L Moser Journal: Autoimmun Rev Date: 2011-10-07 Impact factor: 9.754
Authors: Rachna Aggarwal; Bahram Namjou; Shibo Li; Anil D'Souza; Betty P Tsao; Benjamin F Bruner; Judith A James; R Hal Scofield Journal: J Rheumatol Date: 2010-05-15 Impact factor: 4.666
Authors: Chao Xing; Courtney Gray-McGuire; Jennifer A Kelly; Phillip Garriott; Hulya Bukulmez; John B Harley; Jane M Olson Journal: Hum Genet Date: 2005-09-28 Impact factor: 4.132
Authors: Wanling Yang; Nan Shen; Dong-Qing Ye; Qiji Liu; Yan Zhang; Xiao-Xia Qian; Nattiya Hirankarn; Dingge Ying; Hai-Feng Pan; Chi Chiu Mok; Tak Mao Chan; Raymond Woon Sing Wong; Ka Wing Lee; Mo Yin Mok; Sik Nin Wong; Alexander Moon Ho Leung; Xiang-Pei Li; Yingyos Avihingsanon; Chun-Ming Wong; Tsz Leung Lee; Marco Hok Kung Ho; Pamela Pui Wah Lee; Yuk Kwan Chang; Philip H Li; Ruo-Jie Li; Lu Zhang; Wilfred Hing Sang Wong; Irene Oi Lin Ng; Chak Sing Lau; Pak Chung Sham; Yu Lung Lau Journal: PLoS Genet Date: 2010-02-12 Impact factor: 5.917