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[Hereditary C2 deficiency with systemic lupus erythematosus: clinical and immunologic studies in a family (author's transl)].

作者信息

Brouet J C, Fridman W H, Clauvel J P, Sasportes M, Danon F, Seligmann M

出版信息

Nouv Presse Med. 1977 Oct 22;6(35):3199-203.

PMID:928048
Abstract

A case of systemic lupus erythematosus associated with an homozygous deficiency in the second fraction of complement is reported and compared to previous reports of the literature. The high incidence of infections in these patients is outlined. The defective gene in this family was associated with the HLA A10B18 haplotype and the propositus was homozygous at the HLA-D locus. Familial study allowed the detection of 3 heterozygous individuals two of them being symptomatic (vascular purpura, high incidence of bacterial infections).

摘要

相似文献

1
[Hereditary C2 deficiency with systemic lupus erythematosus: clinical and immunologic studies in a family (author's transl)].
Nouv Presse Med. 1977 Oct 22;6(35):3199-203.
2
Deficiency of C2, the second complement component, in the family of a patient with SLE-like syndrome: the first case of hereditary C2 deficiency in Czechoslovakia.系统性红斑狼疮样综合征患者家族中第二补体成分C2缺乏:捷克斯洛伐克首例遗传性C2缺乏症。
Haematologia (Budap). 1987;20(4):215-20.
3
Selective deficiencies in complement component : a family with hereditary C2 deficiency.补体成分的选择性缺陷:一个遗传性C2缺陷家族。
Biomedicine. 1978 May-Jun;28(3):185-90.
4
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.
5
Lupus erythematosus-like syndrome with a familial deficiency of C2.伴有C2家族性缺陷的红斑狼疮样综合征
Arch Dermatol. 1976 May;112(5):671-4.
6
[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]
Schweiz Med Wochenschr. 1991 Mar 23;121(12):418-23.
7
[Genetic deficiency of C2 associated with haplotype A25, B18 in familial systemic lupus erythematosus].[家族性系统性红斑狼疮中与单倍型A25、B18相关的C2基因缺陷]
Med Clin (Barc). 1982;79(7):295-8.
8
[Disseminated lupus erythematosus and hereditary C2 deficiency].[播散性红斑狼疮与遗传性C2缺乏症]
J Urol Nephrol (Paris). 1978 Apr-May;84(4-5):347-9.
9
Association of systemic lupus erythematosus and SLE-like syndromes with hereditary and acquired complement deficiency states.系统性红斑狼疮及类系统性红斑狼疮综合征与遗传性和获得性补体缺乏状态的关联。
Arthritis Rheum. 1978 Jun;21(5 Suppl):S146-52.
10
HLA genotypes in a family with a case of homozygous C2 deficiency and discoid lupus erythematosus.一个患有纯合子C2缺乏症和盘状红斑狼疮的家族中的HLA基因型。
Acta Derm Venereol. 1986;66(5):419-22.

引用本文的文献

1
Lupus diseases associated with hereditary and acquired deficiencies of complement.与遗传性和获得性补体缺陷相关的狼疮疾病。
Springer Semin Immunopathol. 1986;9(2-3):161-78. doi: 10.1007/BF02099020.