 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Sep 25, 2023 |
| Title |
Targeting of Th17-related cytokines in patients with Darier Disease |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Darier disease (DD) is a rare, inherited multi-organ disorder associated with mutations in the ATP2A2 gene. In DD patients, the skin is frequently affected, characterized by malodorous, inflamed skin and recurrent, severe infections. Therapeutic options are limited and inadequate for the long-term management of this chronic disease. Using immunoprofiling with NanoString technology, qPCR and immunohistochemistry, we demonstrate enhanced expression of Th-17-related genes and cytokines in six DD patients. We prove that targeting the IL-23/-17 axis in DD with monoclonal antibodies is an effective and safe therapy in DD patients, leading to significant clinical improvement. As DD is a chronic, relapsing disease, our findings provide new options for the long-term management of skin inflammation in patients with DD.
|
| |
|
| Overall design |
Four Darier patients had their lesion skin biopsy sampled an processed by single-cell RNA-seq
|
| |
|
| Contributor(s) |
Ettinger M, Burner T, Sharma A, Chang Y, Lackner A, Tsai Y, Pospischil I, Traxler J, Wahl G, Altrichter S, Prompsy P, Schoeftner L, Iselin C, Gratz IK, Kimeswenger S, Guenova E, Hoetzenecker W |
| Citation(s) |
37978298 |
| |
| Submission date |
Jun 20, 2023 |
| Last update date |
Dec 08, 2023 |
| Contact name |
Emmanuella Guenova-Hoetzenecker |
| E-mail(s) |
Emmanuella.Guenova-Hoetzenecker@chuv.ch
|
| Organization name |
CHUV
|
| Department |
Dermatology
|
| Lab |
Guenova
|
| Street address |
49 rue Bugnon
|
| City |
Lausanne |
| State/province |
Vaud |
| ZIP/Postal code |
1005 |
| Country |
Switzerland |
| |
|
| Platforms (1) |
| GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
| Samples (4)
|
|
| Relations |
| BioProject |
PRJNA985620 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE235255_RAW.tar |
20.8 Mb |
(http)(custom) |
TAR (of MTX, TSV) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
|
|
|
|
 |
Less...
More...