Molecular Diagnosis in Autoimmune Skin Blistering Conditions

Abstract

Blister formation in skin and mucous membranes results from a loss of cell-cell or cell-matrix adhesion and is a common outcome of pathological events in a variety of conditions, including autoimmune and genetic diseases, viral and bacterial infections, or injury by physical and chemical factors. Autoantibodies against structural components maintaining cell-cell and cell-matrix adhesion induce tissue damage in autoimmune blistering diseases. Detection of these autoantibodies either tissue-bound or circulating in serum is essential to diagnose the autoimmune nature of disease. Various immunofluorescence methods as well as molecular immunoassays, including enzyme-linked immunosorbent assay and immunoblotting, belong to the modern diagnostic algorithms for these disorders. There is still a considerable need to increase awareness of the rare autoimmune blistering diseases, which often show a severe, chronic-relapsing course, among physicians and the public. This review article describes the immunopathological features of autoimmune bullous diseases and the molecular immunoassays currently available for their diagnosis and monitoring.

Immunoglobulin A: magic bullet or Trojan horse?

“…IgA autoantibodies have been described in several skin blistering diseases [31]. In these chronic diseases, IgA is directed against self-proteins involved in maintaining epidermal cellcell adhesion or against structural proteins of the dermalepidermal junction.…”

IgA Pemphigus in a Child – a Case Report

“…The specificity and sensitivity of Dsc and ELISA is not very high compared with immunofluorescence study using Dsc-transfected COS-7 cells (4,28). Immunoblotting using a desmosome-enriched frac- tion of a bovine snout epidermal extract can be helpful to detect IgA autoantibodies against Dsc, although the sensitivity is similarly low (4).…”

“…Depending on blister location, two variants of the disease have been recognized: 1) subcorneal pustular dermatosis (SPD) and 2) intraepidermal neutrophilic (IEN) IgA dermatosis (3). The incidence and prevalence of IGAP is not known, but it is certainly very low (3,4). The disease is extremely rare in pediatric age group; up to now, only 9 children have been described in the literature, of whom only 3 with SPD type (5).…”

Pemphigus Diagnostikos Ir Gydymo Aktualijos

“…Netiesioginė imunofluorescencija (NIF) parodo autoAk, cirkuliuojančius paciento kraujyje [3]. NIF, atliktoje ant bezdžionės stemplės ar sveiko žmogaus odos, būdingas švelnus tinkliškas epidermio keratinocitų švytėjimas, vadinamas "medaus korio" ar "žuvies tinklo" vaizdas [1,14].…”