Georgia Dermatopathology Associates, Atlanta, GA, USA.
Programa de Estudio y Control de Enfermedades Tropicales (PECET), Medical Research Institute, School of Medicine, University of Antioquia, Medellin, Colombia.
J Appl Lab Med. 2022 Oct 29;7(6):1366-1378. doi: 10.1093/jalm/jfac050.
A new variant of endemic pemphigus foliaceus (EPF) has been documented, El Bagre-EPF. We aimed to study antinuclear antibodies (ANAs) in these patients.
We performed a case-control study, testing 57 patients affected by this disease and 57 controls from the endemic area matched by work activity and demographics. The participants were evaluated clinically as well as by detection of ANAs utilizing HEp-2 cells. We utilized Triton-induced partial permeabilization of the cell membranes, allowing for the visualization of intracellular and intranuclear antigens. We also immunoadsorbed the ANAs using synthetic peptides to elucidate the nature of the ANA.
We detected the presence of a new pattern of ANAs. The new pattern of ANAs was seen in 24% of the El Bagre-EPF patients, compared to our controls (P < 0.001). The new ANA pattern consisted of a thin nuclear and nucleolar rim, finely speckled nucleolar, nuclear membrane pores stains, and a positive intranuclear stain directed against small nuclear components, as well as cytoplasmic deposits of autoantibodies were also observed. The new ANAs pattern perfectly colocalized with commercial antibodies to miocardium-enriched zonula occlusans-1 associated protein (MIZAP), armadillo repeat gene deleted in velo-cardio-facial syndrome (ARVCF), p0071 and desmoplakins I-II (all from Progen Biotechnik). Additionally in 14% of patients with El Bagre-EPF forme fruste and hyperpigmented clinical presentations, a classic homogeneous ANA pattern was observed with autoantibodies specific for Ro, La, Sm, and double-stranded DNA antigens. Immunoadsorption with peptide-based sequences from MIZAP, ARVCF, p0071 and desmoplakins I-II removed the new ANA pattern.
We describe a new pattern of ANAs in El Bagre-EPF, colocalizing with autoantibodies directed against MIZAP, ARVCF, p0071, and desmoplakins I-II.
一种新的地方性落叶型天疱疮（EPF）变异体，即埃尔巴格雷 EPF，已被记录在案。我们旨在研究这些患者的抗核抗体（ANA）。
我们进行了一项病例对照研究，检测了 57 名患有这种疾病的患者和 57 名来自疫区的对照者，这些对照者按工作活动和人口统计学进行匹配。对参与者进行临床评估，以及利用 HEp-2 细胞检测 ANA。我们利用 Triton 诱导细胞膜部分通透，以显示细胞内和核内抗原。我们还使用合成肽免疫吸附 ANA，以阐明 ANA 的性质。
我们检测到存在一种新的 ANA 模式。与我们的对照组相比，埃尔巴格雷 EPF 患者中有 24%存在新的 ANA 模式（P < 0.001）。新的 ANA 模式由薄的核和核仁边缘、细点状核仁、核膜孔染色以及针对小核成分的阳性核内染色组成，同时还观察到细胞质中自身抗体的沉积。新的 ANA 模式与商业抗体心肌富含的闭合蛋白-1 相关蛋白（MIZAP）、唐氏综合征相关的角蛋白重复基因缺失（ARVCF）、p0071 和桥粒芯蛋白 I-II（均来自 Progen Biotechnik）完美共定位。此外，在 14%的埃尔巴格雷 EPF 顿挫型和色素沉着过度的临床表现患者中，观察到一种经典的均质 ANA 模式，其自身抗体特异性针对 Ro、La、Sm 和双链 DNA 抗原。使用基于肽的 MIZAP、ARVCF、p0071 和桥粒芯蛋白 I-II 序列进行免疫吸附去除了新的 ANA 模式。
我们描述了埃尔巴格雷 EPF 中一种新的 ANA 模式，与针对 MIZAP、ARVCF、p0071 和桥粒芯蛋白 I-II 的自身抗体共定位。
