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

BACKGROUND: Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) is a rare condition associated with plaque-type psoriasis, generalized pustular psoriasis, palmoplantar pustular psoriasis and pityriasis rubra pilaris. Recently, a new CARD14 –associate...

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Bibliografiske detaljer
Udgivet i:Pediatr Rheumatol Online J
Main Authors: Signa, S., Campione, E., Rusmini, M., Chiesa, S., Grossi, A., Omenetti, A., Caorsi, R., Viglizzo, G. M., Galluzzo, M., Bianchi, L., Talamonti, M., Orlandi, A., Martini, A., Ceccherini, I., Gattorno, M.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6615224/
https://ncbi.nlm.nih.gov/pubmed/31286971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-019-0336-3
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