Title:Molecular Diagnosis in Autoimmune Skin Blistering Conditions
Volume: 14
Issue: 1
Author(s): J.V. Otten, T. Hashimoto, M. Hertl, A.S. Payne and C. Sitaru
Affiliation:
Keywords:
Autoantibodies, autoantigens, basement membrane, desmosome, ELISA, extracellular matrix,
hemidesmosome, immunoassay, immunoblotting, immunofluorescence microscopy.
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.
