%0 Journal Article
%T Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab
%A A. Grossi
%A A. Martini
%A A. Omenetti
%A A. Orlandi
%A E. Campione
%A G. M. Viglizzo
%A I. Ceccherini
%A L. Bianchi
%A M. Galluzzo
%A M. Gattorno
%A M. Rusmini
%A M. Talamonti
%A R. Caorsi
%A S. Chiesa
%A S. Signa
%J Archive of "Pediatric Rheumatology Online Journal".
%D 2019
%R 10.1186/s12969-019-0336-3
%X a-d Clinical presentation of the two twins presenting a CARD14-mediated severe erythrodermic psoriasis; hand (a) and trunk (b) before treatment and after (c-d) seven months of ustekinumab treatment. e The whole pedigree is depicted with the grey symbols indicating the affected members and an asterisk pointing out members for whom we got a biological sample. Five members of the family, namely those indicated by an arrow were analyzed for a new gene search by Whole Exome Sequencing (WES) analysis. The two twin siblings of the IV generation are the proband
%K Erythrodermic psoriasis
%K CARD14
%K Ustekinumab
%K Whole exome sequencing
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615224/