Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab-Reference-Cited by-同舟云学术

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

Published:2019-07-08 Issue:1 Volume:17 Page:
ISSN:1546-0096
Container-title:Pediatric Rheumatology
language:en
Short-container-title:Pediatr Rheumatol

Author:

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.

Funder

INSAID project -E-rare-3 program

Publisher

Springer Science and Business Media LLC

Subject

Immunology and Allergy,Rheumatology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12969-019-0336-3.pdf

Reference16 articles.

1. Jordan CT, Cao L, Roberson ED, et al. PSORS2 is due to mutations in CARD14. Am.J.Hum.Genet. 2012;90(5):784–95.

2. Fuchs-Telem D, Sarig O, van Steensel MA, et al. Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet. 2012;91(1):163–70.

3. Mossner R, Frambach Y, Wilsmann-Theis D, et al. Palmoplantar Pustular psoriasis is associated with missense variants in CARD14, but not with loss-of-function mutations in IL36RN in European patients. J Invest Dermatol. 2015;135(10):2538–41.