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与血管性水肿、重症肌无力和系统性红斑狼疮相关的杂合子C2缺乏症。

Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus.

作者信息

Efthimiou J, D'Cruz D, Kaplan P, Isenberg D

出版信息

Ann Rheum Dis. 1986 May;45(5):428-30. doi: 10.1136/ard.45.5.428.

DOI:10.1136/ard.45.5.428
PMID:3718019
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1001905/
Abstract

We describe a patient with myasthenia gravis, systemic lupus erythematosus, and angioedema associated with heterozygous complement factor 2 (C2) deficiency. The significance of this association is controversial, though the association of C2 deficiency with certain histocompatibility antigens suggests possible linkage to immune response genes. To our knowledge this is the first report of heterozygous C2 deficiency in association with this combination of 'autoimmune' disorders, and we discuss the aetiological implications.

摘要

我们描述了一名患有重症肌无力、系统性红斑狼疮以及与杂合性补体因子2(C2)缺乏相关的血管性水肿的患者。尽管C2缺乏与某些组织相容性抗原的关联提示可能与免疫反应基因存在联系,但其这种关联的意义仍存在争议。据我们所知,这是首例关于杂合性C2缺乏与这种“自身免疫性”疾病组合相关的报告,我们将讨论其病因学意义。

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Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus.与血管性水肿、重症肌无力和系统性红斑狼疮相关的杂合子C2缺乏症。
Ann Rheum Dis. 1986 May;45(5):428-30. doi: 10.1136/ard.45.5.428.
2
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Arthritis Rheum. 1978 Jun;21(5 Suppl):S146-52.
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[Systemic lupus erythematosus associated with homozygous C2 deficiency. Apropos of a case report and literature review].[纯合子C2缺乏相关的系统性红斑狼疮。附病例报告及文献复习]
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本文引用的文献

1
MYASTHENIA GRAVIS AND SYSTEMIC LUPUS ERYTHEMATOSUS.重症肌无力与系统性红斑狼疮。
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2
Serologic studies in a family with heterozygous C2 deficiency.对一个患有杂合子C2缺乏症的家族进行的血清学研究。
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Development of systemic lupus erythematosus after thymectomy for myasthenia gravis. Studies of suppressor cell function.重症肌无力胸腺切除术后系统性红斑狼疮的发生。抑制细胞功能研究。
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C2 deficiency. Development of lupus erythematosus.C2缺乏。红斑狼疮的发展。
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5
Hereditary angioedema and "familial" lupus erythematosus in identical twin boys.同卵双胞胎男孩中的遗传性血管性水肿和“家族性”红斑狼疮。
Am J Med. 1974 Mar;56(3):406-11. doi: 10.1016/0002-9343(74)90623-8.
6
Thymoma, myasthenia gravis, erythroblastopenic anemia and systemic lupus erythematosus in one patient.一名患者同时患有胸腺瘤、重症肌无力、红细胞生成减少性贫血和系统性红斑狼疮。
Can Med Assoc J. 1973 Oct 20;109(8):733-8.
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Hereditary C2 deficiency with some manifestations of systemic lupus erythematosus.伴有系统性红斑狼疮某些表现的遗传性C2缺乏症。
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Immunologic injury of cultured cells infected with measles virus. I. role of IfG antibody and the alternative complement pathway.感染麻疹病毒的培养细胞的免疫损伤。I. 干扰素γ抗体和替代补体途径的作用。
J Exp Med. 1975 Apr 1;141(4):761-74.
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Hereditary C2 deficiency: diagnosis and HLA gene complex associations.遗传性C2缺乏症:诊断与HLA基因复合体关联
J Immunol. 1976 Apr;116(4):1065-70.
10
Inherited deficiency of the second component of complement. Rheumatic disease associations.补体第二成分的遗传性缺陷。与风湿性疾病的关联。
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