The genetic basis for most patients with pustular skin disease remains elusive.
Rotraut MössnerD Wilsmann-TheisV OjiP GkogkolouS LöhrP SchulzA KörberJ C PrinzR RennerK SchäkelL VogelsangK-P PetersS PhilippKristian ReichH StänderA JacobiA WeyergrafK KingoS KõksS GerdesK SteinzT SchillK G GriewankM MüllerS FreyL EbertschS UebeM SticherlingH StichtUlrike HüffmeierPublished in: The British journal of dermatology (2018)
The identification of IL36RN mutation carriers harbouring additional rare variants in CARD14 or AP1S3 indicates a more complex mode of inheritance of pustular psoriasis. Our results suggest that, in heterozygous IL36RN mutation carriers, there are additional disease-causing genetic factors outside IL36RN.