Faculté de Médecine, Université de Strasbourg, Clinique Dermatologique, France.
Lupus. 2010 Aug;19(9):1096-106. doi: 10.1177/0961203310373370.
In this review we address the main cutaneous manifestations and diseases associated with deficiencies in components of the complement system. The first part is devoted to hereditary angioedema, in which acute, sometimes life-threatening recurrent attacks of acute swelling, usually associated with gastrointestinal symptoms, occur. It is related to a structural or functional deficiency of C1 esterase inhibitor. Patients usually have lowered C4 levels, and diagnosis relies on determination of antigenic and/or functional C1 inhibitor level. The second part focuses on lupus erythematosus, as deficiencies in early components of the complement system, such as C1q, C1r, C1s, C2 or C4, are the strongest known disease susceptibility genes for the development of human systemic lupus erythematosus. Severe infections early in life and marked photosensitivity in a patient with lupus erythematosus are clues to an underlying complement deficiency. The genetic background and the clinical associations of the different components of the complement system will be detailed.
在这篇综述中，我们将讨论与补体系统成分缺陷相关的主要皮肤表现和疾病。第一部分专门介绍遗传性血管性水肿，其特征为急性、反复发作的肿胀，有时伴有危及生命的胃肠道症状。它与 C1 酯酶抑制剂的结构或功能缺陷有关。患者通常 C4 水平降低，诊断依赖于抗原和/或功能性 C1 抑制剂水平的测定。第二部分重点介绍红斑狼疮，因为补体系统早期成分（如 C1q、C1r、C1s、C2 或 C4）的缺陷是已知的人类系统性红斑狼疮发展的最强疾病易感基因。在生命早期的严重感染和红斑狼疮患者的明显光敏感性是潜在补体缺陷的线索。补体系统不同成分的遗传背景和临床关联将详细介绍。
