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Transcriptomic profiling of lesional and healthy skin in pemphigus patients reveals IL-17–driven immune response

ABSTRACT: Pemphigus is a rare autoimmune blistering skin disease characterized by autoantibodies against desmoglein 1 and/or 3. To better understand the immunopathology of pemphigus, we performed RNA sequencing of lesional skin biopsies from pemphigus patients (n=6) and compared them to skin biopsies from healthy controls (n=6). Our data reveal an IL-17/IL-21–dominated transcriptional signature, with upregulation of inflammatory cytokines, chemokines, and tissue remodeling genes. These findings support the hypothesis that pemphigus pathogenesis is driven by a TH17/TFH17-type immune response and offer insights into potential therapeutic targets.

ORGANISM(S): Homo sapiens

PROVIDER: GSE299468 | GEO | 2025/06/11

REPOSITORIES: GEO

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Project description:Pemphigus foliaceus (PF) is a complex autoimmune disease characterized by bullous skin lesions and the presence of antibodies against desmoglein 1. In this study we sought to contribute to a better understanding of the molecular processes in endemic PF, since the identification of factors that participate in the pathogenesis is a prerequisite for understanding its biological basis and may lead to novel therapeutic interventions. CD4+ T lymphocytes are central to the development of the disease. Therefore, we compared genome-wide gene expression profiles of peripheral CD4+ T cells of various PF patient subgroups with each other and with that of healthy individuals. The patients sample was subdivided in three groups: untreated patients with the generalized form of the disease, patients submitted to immunosuppressive treatment, and patients with the localized form of the disease. Comparisons between different subgroups resulted in 135, 54 and 64 genes differentially expressed. These genes are mainly related with lymphocyte adhesion and migration, apoptosis, cellular proliferation, cytotoxicity and antigen presentation. Several of these genes were differentially expressed when comparing lesional and uninvolved skin from the same patient. The chromosomal regions 19q31 and 12p13 concentrate differentially expressed genes and are candidate regions for PF susceptibility genes and disease markers. Our results reveal genes involved in severity, potential therapeutic targets and previously unsuspected processes involved in the pathogenesis. Besides, this study adds original information that will contribute to the understanding of PFM-bM-^@M-^Ys pathogenesis and of the still poorly defined in vivo functions of most of these genes. 24 samples were analyzed, no replicates. Three groups of patients were analyzed: (1) patients with the generalized form of the disease and without treatment; (2) patients with the generalized form undergoing immunosuppressive therapy (prednisone); and (3) patients with the localized form of the disease and without treatment. A fourth group consisted of healthy control subjects.

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Transcriptomic profiling of lesional and healthy skin in pemphigus patients reveals IL-17–driven immune response

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