Natural occurrence of autoantibodies against basement membrane proteins in epidermolysis bullosa

HIGHLIGHTS

• who: Antoni Gostyu0144ski from the literature, we have investigated skin biopsies and serum of , patients with EB with a wide variety of techniques, including DIF and IIF on SSS to assess the presence of circulating antibodiesOf the , patients, were affected with JEB due to mutations in , and COL, and , were affected with DEB due to mutations in COL , (Table, ). A total of , of the , included patients had revertant mosaicism (, with JEB and , with recessive DEB [RDEB]) (Supplementary Table, ), that is, healthy, natural skin patches due to correcting somatic mutations that occurred during embryo development or later in . . .
  

   

  

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