Development of NC1 and NC2 domains of Type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients

Saleh, Marwah Adly; Ishii, Ken; Kim, Yool Ja; Murakami, Akihiro; Ishii, Norito; Hashimoto, Takashi; Schmidt, Enno; Zillikens, Detlef; Shirakata, Yuji; Hashimoto, Koji; Kitajima, Yasuo; Amagai, Masayuki

doi:10.1016/j.jdermsci.2011.03.003

Cited by 95 publications

(96 citation statements)

References 19 publications

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“…ELISA development or HLA-associations, are excluded from this analysis, a total of 519 data sets in 194 publications remain. The green arrow indicates the time point when IG deposits were first noticed in EBA patients [3], while the red arrow corresponds to the description of the first [47] and the first commercialized [72] ELISA system detecting autoantibodies directed against COL7…”

Section: Resultsmentioning

confidence: 99%

Meta-analysis of the clinical and immunopathological characteristics and treatment outcomes in epidermolysis bullosa acquisita patients

Iwata

Vorobyev

Koga

et al. 2018

Orphanet J Rare Dis

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BackgroundEpidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Several clinical phenotypes have been described, but subepidermal blistering is characteristic of all variants. Limited data on clinical and immunopathological characteristics and treatment outcomes in EBA are available. To fill this gap, we collected this information from EBA cases, meeting current diagnostic criteria, published between 1971 and 2016.ResultsWe identified 1159 EBA cases. This number must be, however, interpreted with caution, as it is not possible to check for multiple reporting. The analysis of all cases indicated that EBA affects all age groups (median: 50 years, range: 1 to 94 years) at an equal gender distribution. Non-mechanobullous (non-MB) forms of EBA were observed in 55% of patients, whereas the mechanobullous variant (MB-EBA) or a combination of both variants was described in 38 or 7% of patients, respectively. Type VII collagen (COL7)-specific autoantibodies were primarily of the IgG isotype, but anti-COL7 IgA, IgM and IgE were also documented. Comparison of the 2 clinical EBA types showed a higher frequency of IgA deposits in non-MB EBA as opposed to MB EBA. Mucous membrane involvement was observed in 23% of patients, and 4.4% of cases were associated with other chronic inflammatory diseases. Of note, IgA deposits were more frequently observed in cases with mucous membrane involvement. Our analysis indicated that EBA is difficult to treat and that the choice of treatment varies widely. Chi square was applied to identify medications associated with complete remission (CR). Considering all EBA cases, intravenous immunoglobulin (IVIG, p = 0.0047) and rituximab (p = 0.0114) were associated with CR. Subgroup analysis demonstrated that no treatment was associated with CR for non-MB EBA, while IVIG (p = 0.003) was associated with CR in MB EBA.ConclusionsWithin the limitations of the study, we here document the clinical and immunopathological characteristics and treatment outcomes in a large cohort of EBA patients. The observed associations of single drugs with treatment outcome may serve as a guide to develop clinical trials.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0896-1) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Meta-analysis of the clinical and immunopathological characteristics and treatment outcomes in epidermolysis bullosa acquisita patients

Iwata

Vorobyev

Koga

et al. 2018

Orphanet J Rare Dis

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“…Several ELISA systems using recombinant fragments of BP180, BP230, desmoglein1, desmoglein3, have become commercially available and are highly valuable diagnostic tools [19]. ELISAs were also developed to detect autoantibodies in EBA using different recombinant proteins of the NC-1 domain of type VII collagen [20,21]. Previous reports demonstrate that these tests showed high sensitivity and specificity, and in some clinical studies serial titres of anti-type collagen VII from each patient with EBA reflected the disease activity [22-24].…”

Section: Introductionmentioning

confidence: 99%

Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa

Tampoia

Bonamonte

Filoni

et al. 2013

Orphanet J Rare Dis

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BackgroundInherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant component of the anchoring fibrils at the dermal-epidermal junction.For the first time in literature, we have evaluated the presence of anti-skin autoantibodies in a wider cohort of patients suffering from inherited EB and ascertained whether they may be a marker of disease activity.MethodsSera from patients with inherited EB, 17 with recessive dystrophic EB (RDEB), 10 with EB simplex (EBS) were analysed. As much as 20 patients with pemphigus vulgaris, 21 patients with bullous pemphigoid and 20 healthy subjects were used as controls.Anti-skin autoantibodies were tested in all samples with the Indirect Immunofluorescence (IIF) method and the currently available ELISA method in order to detect anti-type VII collagen, anti-BP180 and anti-BP230 autoantibodies.ResultsThe mean concentrations of anti-type VII collagen autoantibodies titres, anti-BP180 and anti-BP230 autoantibodies were statistically higher in RDEB patients than in EBS patients.The sensitivity and specificity of the anti-type VII collagen ELISA test were 88.2% and 96.7%. The Birmingham Epidermolysis Bullosa Severity score, which is used to evaluate the severity of the disease, correlated with anti-skin autoantibodies titres.ConclusionsThe precise pathogenic role of circulating anti-skin autoantibodies in RDEB is unclear. There is a higher prevalence of both anti-type VII collagen and other autoantibodies in patients with RDEB, but their presence can be interpreted as an epiphenomenon.

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“…When an ELISA combined NC1 and NC2 domains of type VII collagen was used to detect anti-type VII collagen antibodies of EBA, its sensitivity and specificity could be improved to 93.8% and 98.1%, respectively. [28] In addition, an ELISA for the detection of autoantibodies in anti-p200 pemphigoid is also available recently. [29] The limitation of this study is that ELISA was not used for the differential diagnosis of EBA and BP.…”

Section: Discussionmentioning

confidence: 99%

Accuracy of indirect immunofluorescence on sodium chloride-split skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita

Yang¹,

Wang²,

Chen³

et al. 2011

Indian J Dermatol Venereol Leprol

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Epidermal reaction using the IIF-SSS assay highly correlated with the diagnosis of BP. However, dermal reactions correlated poorly with EBA, with some serum samples from BP patients binding to dermal-side antigens. In both epidermal and dermal stained sera using IIF-SSS, there was a possibility of BP and EBA. Differential diagnosis should be confirmed using IB, especially in cases of dermal and double staining patterns assayed using IIF-SSS.

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Development of NC1 and NC2 domains of Type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients

Cited by 95 publications

References 19 publications

Meta-analysis of the clinical and immunopathological characteristics and treatment outcomes in epidermolysis bullosa acquisita patients

Meta-analysis of the clinical and immunopathological characteristics and treatment outcomes in epidermolysis bullosa acquisita patients

Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa

Accuracy of indirect immunofluorescence on sodium chloride-split skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita

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