CARD14 Missense Variant Underlying CARD14-Associated Papulosquamous Eruption with Beneficial Response to Secukinumab
CARD14-associated papulosquamous eruption is an autosomal dominant genodermatosis characterized by early-onset, generalized erythematous patches and plaques with prominent scales, mostly with facial involvement. Heterozygous gain-of-function variants in the CARD14 gene have been reported to be causa...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2023-03-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | CARD14-associated papulosquamous eruption is an autosomal dominant genodermatosis characterized by early-onset, generalized erythematous patches and plaques with prominent scales, mostly with facial involvement. Heterozygous gain-of-function variants in the CARD14 gene have been reported to be causative for this entity. The pathogenesis mainly involves the IL-23‒IL-17 inflammatory circuit, yet the efficacy of anti‒IL-17 treatment remained less examined. In this study, we report one previously unidentified variant underlying the CARD14-associated papulosquamous eruption and showed its gain-of-function property. Furthermore, we present the beneficial effect of anti‒IL-17A treatment in our patient. |
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| Item Description: | 2667-0267 10.1016/j.xjidi.2022.100174 |