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-  2019 

Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab

DOI: 10.1186/s12969-019-0336-3

Keywords: Erythrodermic psoriasis, CARD14, Ustekinumab, Whole exome sequencing

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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

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