自身免疫性水疱性疾病(AIBDs)是一组大约十几种实体的异质组,包括天疱疮和类天疱疮疾病和疱疹样皮炎。AIBDs的准确诊断对于预后和治疗都至关重要,并且基于临床表现以及组织结合和循环自身抗体的检测。虽然皮肤和/或可检查的粘膜表面上的水疱和糜烂是典型的,病变可能是高度可变的红斑,荨麻疹,Prurigo-like,或湿疹表现。虽然病灶周围活检的直接免疫荧光显微镜(IFM)仍然是诊断的金标准,主要靶抗原的分子鉴定开辟了新的治疗途径。目前,大多数AIBDs可以通过酶联免疫吸附测定(ELISA)或间接IFM检测自身抗原特异性血清抗体来诊断。这是通过使用主要靶抗原的重组免疫显性片段的容易获得且高度特异性和敏感性的测定来实现的。即,desmoglein1(用于天疱疮),桥粒蛋白3(用于寻常型天疱疮),envoplakin(用于副肿瘤性天疱疮),BP180/XVII型胶原蛋白(用于大疱性类天疱疮,类天疱疮妊娠,和粘膜类天疱疮),层粘连蛋白332(用于粘膜类天疱疮),层粘连蛋白β4(用于抗p200类天疱疮),VII型胶原蛋白(用于表皮松解性大疱性和粘膜类天疱疮),和转谷氨酰胺酶3(用于疱疹样皮炎)。需要在组织基质上进行间接IFM,并进行内部ELISA和免疫印迹测试,以检测一些AIBD患者(包括线性IgA疾病患者)的自身抗体。这里,提出了一种简单的现代诊断AIBDs的方法,包括根据国家和国际指南制定的诊断标准,并辅以长期的内部专业知识.
Autoimmune blistering disorders (AIBDs) are a heterogeneous group of approximately a dozen entities comprising pemphigus and
pemphigoid disorders and dermatitis herpetiformis. The exact diagnosis of AIBDs is critical for both prognosis and treatment and is based on the clinical appearance combined with the detection of tissue-bound and circulating autoantibodies. While blisters and erosions on the skin and/or inspectable mucosal surfaces are typical, lesions may be highly variable with erythematous, urticarial, prurigo-like, or eczematous manifestations. While direct immunofluorescence microscopy (IFM) of a perilesional biopsy is still the diagnostic gold standard, the molecular identification of the major target antigens opened novel therapeutic avenues. At present, most AIBDs can be diagnosed by the detection of autoantigen-specific serum antibodies by enzyme-linked immunosorbent assay (ELISA) or indirect IFM when the clinical picture is known. This is achieved by easily available and highly specific and sensitive assays employing recombinant immunodominant fragments of the major target antigens, i.e., desmoglein 1 (for pemphigus foliaceus), desmoglein 3 (for pemphigus vulgaris), envoplakin (for paraneoplastic pemphigus), BP180/type XVII collagen (for bullous
pemphigoid,
pemphigoid gestationis, and mucous membrane
pemphigoid), laminin 332 (for mucous membrane
pemphigoid), laminin β4 (for anti-p200
pemphigoid), type VII collagen (for epidermolysis bullosa acquisita and mucous membrane
pemphigoid), and transglutaminase 3 (for dermatitis herpetiformis). Indirect IFM on tissue substrates and in-house ELISA and immunoblot tests are required to detect autoantibodies in some AIBD patients including those with linear IgA disease. Here, a straightforward modern approach to diagnosing AIBDs is presented including diagnostic criteria according to national and international guidelines supplemented by long-term in-house expertise.