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ePaper created 2014-09-15, 12:31:02 | version 1.32.01
References 1. Jonkman MF, Scheffer H, Stulp R, et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997; 88: 543-51. 2. Pasmooij AMG, Pas HH, Deviaene FC, et al. Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am J Hum Genet. 2005; 77: 727-40. 3. Jonkman MF, Pasmooij AMG. Revertant mosaicism--patchwork in the skin. N Engl J Med. 2009; 360: 1680-2. 4. Gostynski A, Deviaene FC, Pasmooij AMG, et al. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy. Br J Dermatol. 2009; 161: 444-7. 5. Gostynski A, Llames S, García M, et al. Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy. J Invest Dermatol. 2013 Jul 24. doi: 10. 1038/jid.2013.308. [Epub ahead of print] PubMed PMID: 23884316. 6. Pasmooij AMG, Jonkman MF. First symposium on natural gene therapy of the skin. Exp Dermatol. 2012; 21: 236-9. Enhancements in immunofluorescence microscopy The breakthrough in the diagnostic classification of pemphigoid diseases came with the use of immunofluorescence microscopy in 1965 by Beutner and Jordan. In the following years several pemphigoid diseases were further unravelled and specified by using direct and indirect immuno- fluorescence microscopy (IF). In the Center for Blistering Diseases in Groningen new techniques were developed that increased the yield of IF diagnosis, and helped the clinician to solve the most complicated diagnostic cases. Fluorescent overlay antigen mapping, a new transport medium for IF skin biopsies, and the serration pattern analysis to differentiate epidermolysis bullosa acquisita from other pemphigoid diseases are three of the important improvements made by our immuno- fluorescence laboratory, and in which the immunologist-biologist De Jong played a pivotal role. By mapping immunodeposits along the basement membrane zone it is possible to differentiate pemphigoids with high deposition (bullous pemphigoid) from those with low deposition (epidermolysis bullosa acquisita). The technique for mapping was called Fluorescent Overlay Antigen Mapping (FOAM).[1] This IF technique was developed by Siert Bruins and Marcelus De Jong in our laboratory. For instance, FOAM could differentiate between immunoreactivity to bullous pemphigoid antigens from that to type VII collagen, the epidermolysis bullosa acquisita antigen. Robert Vodegel et al extended this technique and reported the possibility of discerning immunoreactivity between intermediate depositions against laminin-332 from low depositions against type VII collagen.[2] The work with epidermolysis bullosa provided skin tissue samples in which autoantigens in the basement membrane zone were absent. These samples could be used as knockout substrates to test the presence of specific autoantibodies by indirect IF in sera of patients with subepidermal autoimmune bullous diseases.[3] For preservation of tissue-bound immunoreactants, biopsies were usually fresh-frozen in liquid nitrogen or transported in Michel’s fixative. These transport mediums can give false negative results due to the 58 ´ ´ BWEADVSMGFINCORR:Opmaak 1 21-07-2014 17:40 Pagina 58