Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome.
Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome.
复制标题
DOI：
10.1002/art.23701
复制
发表时间：
2008-08
影响因子：
--
通讯作者：
Harley, John B.
中科院分区：
文献类型：
--
作者：
Scofield, R. Hal;Bruner, Gail R.;Namjou, Bahram;Kimberly, Robert P.;Ramsey-Goldman, Rosalind;Petri, Michelle;Reveille, John D.;Alarcon, Graciela S.;Vila, Luis A.;Reid, Jeff;Harris, Bryan;Li, Shibo;Kelly, Jennifer A.;Harley, John B.
系统性红斑狼疮（SLE）是一种全身性自身免疫性疾病，主要影响妇女。尽管Klinefelter综合征（47，XXY）和SLE在孤立病例中共存，但尚未确定与SLE或任何其他自身免疫性疾病相关。方法：对981例SLE患者（其中男性213例）进行性染色体分型。第一组843例SLE患者来自378个多重家庭和第二组138名男性非家族性SLE进行了评估。荧光原位杂交（FISH）和核型分析在转化B细胞系计数染色体的选定情况下。在213例SLE患者中，5例有Klinefelter综合征（或1/43）。其中4例为X标记杂合子。第5例FISH和核型分析证实为Klinefelter综合征。结果发现，SLE男性患者的总患病率为235 47，XXY/10，000（95%CI：77 - 539），比已知的Klinefelter综合征在SLE人群中的患病率（17/10，000活产男婴）显著增加。询问SLE患者的生育能力对Klinefelter综合征高度敏感（100%）。768例SLE患者X染色体均为杂合子。47，XXY Klinefelter综合征，通常是亚临床的，在患有SLE的男性中比其在没有SLE的男性中的患病率增加约14倍。对47，XXY男性SLE患者的诊断警惕是必要的。这些数据首次将克氏综合征与一种主要见于女性的自身免疫性疾病联系起来。预计Klinefelter综合征患者发生SLE的风险与正常46，XX女性相似，比46，XY男性高约14倍，这与SLE易感性部分由X染色体基因剂量效应解释一致。
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that predominantly affects women. Despite Klinefelter's syndrome (47,XXY) and SLE coexisting in isolated cases, no association has been established with SLE or any other autoimmune disease. Methods: Sex chromosome genotyping was performed in 981 SLE patients (213 were men). A first group of 843 SLE patients from 378 multiplex families and a second group of 138 men with non-familial SLE were evaluated. Fluorescent in situ hybridization (FISH) and karyotyping in transformed B cell lines enumerated chromosomes for selected cases. Of 213 men with SLE, five had Klinefelter's syndrome (or 1 in 43). Four of them were heterozygous at X markers. FISH and karyotyping confirmed Klinefelter’s syndrome in the fifth. An overall rate of 235 47,XXY per 10,000 male SLE patients (95%CI: 77 to 539) was found, a dramatic increase over the known prevalence of Klinefelter's syndrome in an unselected population (17 per 10,000 live male births). Asking men with SLE about fertility was highly sensitive (100%) for Klinefelter’s syndrome. All 768 SLE women were heterozygous at X. 47,XXY Klinefelter's syndrome, often subclinical, is increased in men with SLE by ~14-fold, compared to its prevalence in men without SLE. Diagnostic vigilance for 47,XXY males in SLE is warranted. These data are the first to associate Klinefelter's syndrome with an autoimmune disease found predominantly in women. The risk of SLE in Klinefelter's syndrome is predicted to be similar to the risk in normal 46,XX women and ~14-fold higher than in 46,XY men, consistent with SLE susceptibility being partly explained by a X chromosome gene dose effect.
登录
查看更多内容
DOI：
10.1016/0090-1229(92)90086-4
发表时间：
1992-04-01
期刊：
CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY
影响因子：
--
作者：
LAHITA, RG
通讯作者：
LAHITA, RG
影响因子：
5.8
作者：
BIZZARRO, A;VALENTINI, G;IACONO, G
通讯作者：
IACONO, G
影响因子：
3.2
作者：
Elsheikh, M;Wass, JAH;Conway, GS
通讯作者：
Conway, GS
DOI：
10.1073/pnas.95.25.14869
发表时间：
1998-12-08
影响因子：
11.1
作者：
Moser, KL;Neas, BR;Harley, JB
通讯作者：
Harley, JB
影响因子：
--
作者：
JOHNSON, AE;GORDON, C;BACON, PA
通讯作者：
BACON, PA