The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab
AS Paller, T Czarnowicki, Y Renert-Yuval… - Journal of the American …, 2018 - Elsevier
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 erythroderma/ichthyosis and
cardiomyopathy. Results On the basis of the discovery of T helper 1 and T helper …
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 erythroderma/ichthyosis and
cardiomyopathy. Results On the basis of the discovery of T helper 1 and T helper …
