Article
The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab.
Journal of the American Academy of Dermatology - 1 Mar 2018
Paller Amy S, Czarnowicki Tali, Renert-Yuval Yael, Holland Kristen, Huynh Thy, Sadlier Muriel, McAleer Maeve A, Tran Gary, Geddes Gabrielle C, Irvine Alan D, Guttman-Yassky Emma
Abstract excerpt
BACKGROUND: The immune abnormalities underlying the ichthyoses are poorly understood. OBJECTIVE: To determine the immunophenotype of an ichthyosis resulting from mutations in the spectrin repeat 6 (SR6) domain of desmoplakin gene (DSP) and target therapy on the basis of molecular pathogenesis. METHODS: Immunophenotyping was performed by using the blood and skin of a girl with SR6 region DSP mutations causing...
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