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导致儿童关节炎的免疫缺陷和遗传疾病。

Immunodeficiency and genetic conditions that cause arthritis in childhood.

作者信息

Quartier Pierre, Prieur Anne-Marie

机构信息

Unité d'Immunologie-Hématologie et Rhumatologie Pédiatrique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France.

出版信息

Curr Rheumatol Rep. 2002 Dec;4(6):483-93. doi: 10.1007/s11926-002-0054-5.

DOI:10.1007/s11926-002-0054-5
PMID:12427362
Abstract

Many conditions can cause or be associated with arthritis in childhood. The authors of this paper will review the situations in which underlying immunodeficiency or defective regulation of lymphocyte homeostasis must be suspected, and discuss, for some of these diseases, the genetic bases and pathogenesis. In the second part of this article, the authors will focus on other diseases that can cause arthritis in childhood, often with other symptoms, and for which evidence of an association with genetic abnormalities has been recently discovered. Finally, the authors will discuss the implications of recent findings regarding the role of some genes as causing or modulating factors in juvenile idiopathic arthritis and related disorders, as well as observations made in adults and in animal models of inflammation and autoimmunity.

摘要

许多病症可导致儿童患关节炎或与儿童关节炎相关。本文作者将回顾那些必须怀疑存在潜在免疫缺陷或淋巴细胞稳态调节缺陷的情况,并针对其中一些疾病讨论其遗传基础和发病机制。在本文的第二部分,作者将重点关注其他可导致儿童患关节炎的疾病,这些疾病通常伴有其他症状,且最近已发现其与基因异常有关的证据。最后,作者将讨论最近关于某些基因在幼年特发性关节炎及相关疾病中作为致病或调节因素所起作用的研究结果,以及在成人和炎症与自身免疫动物模型中的观察结果。

相似文献

1
Immunodeficiency and genetic conditions that cause arthritis in childhood.导致儿童关节炎的免疫缺陷和遗传疾病。
Curr Rheumatol Rep. 2002 Dec;4(6):483-93. doi: 10.1007/s11926-002-0054-5.
2
Genes on the X chromosome affect development of collagen-induced arthritis in mice.X染色体上的基因影响小鼠胶原诱导性关节炎的发展。
Clin Exp Immunol. 1993 Dec;94(3):459-65. doi: 10.1111/j.1365-2249.1993.tb08218.x.
3
Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.科帕综合征:一种新型常染色体显性免疫调节异常疾病。
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Autoimmunity and primary immunodeficiency: two sides of the same coin?自身免疫与原发性免疫缺陷:同一枚硬币的两面?
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The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects.自身免疫与免疫缺陷的交叉点:多基因性状和单基因缺陷的启示。
J Allergy Clin Immunol. 2016 Jan;137(1):3-17. doi: 10.1016/j.jaci.2015.11.004.
6
Arthritis and immunodeficiency.
J Pediatr. 1972 Oct;81(4):801-3. doi: 10.1016/s0022-3476(72)80110-0.
7
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Curr Opin Rheumatol. 1993 Jul;5(4):475-82. doi: 10.1097/00002281-199305040-00012.
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[Inflammatory rheumatism in immunologic deficiencies].
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本文引用的文献

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Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.慢性婴儿神经皮肤和关节综合征由CIAS1基因突变引起,CIAS1基因在多形核细胞和软骨细胞中高度表达。
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分枝杆菌免疫的遗传学剖析:人类模型
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C1q deficiency and autoimmunity: the effects of genetic background on disease expression.C1q缺乏与自身免疫:遗传背景对疾病表现的影响。
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Hereditary periodic fever.遗传性周期性发热
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Reactive haemophagocytic syndrome in children with inflammatory disorders. A retrospective study of 24 patients.炎症性疾病患儿的反应性噬血细胞综合征。24例患者的回顾性研究。
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The role of cytotoxicity in lymphocyte homeostasis.细胞毒性在淋巴细胞稳态中的作用。
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