"Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients”
Background Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scaling, fissuring, chronic inflammation, and increased susceptibility to infections. Recently, there is increased interest in the skin microbiome; therefore, we hypothesi...
Đã lưu trong:
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| Định dạng: | Research article |
| Ngôn ngữ: | English |
| Được phát hành: |
2024
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| Truy cập trực tuyến: | https://scholar.dlu.edu.vn/handle/123456789/3435 |
| Các nhãn: |
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| Thư viện lưu trữ: | Thư viện Trường Đại học Đà Lạt |
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| Tóm tắt: | Background Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present
with epidermal scaling, fissuring, chronic inflammation, and increased susceptibility to infections. Recently, there
is increased interest in the skin microbiome; therefore, we hypothesized that CI patients likely exhibit an abnormal profile of epidermal microbes because of their various underlying skin barrier defects. Among recruited individuals
of Southeast Asian ethnicity, we performed skin meta‐genomics (i.e., whole‐exome sequencing to capture the entire multi‐kingdom profile, including fungi, protists, archaea, bacteria, and viruses), comparing 36 CI patients (representing seven subtypes) with that of 15 CI age‐and gender‐matched controls who had no family history of CI.
Results This case–control study revealed 20 novel and 31 recurrent pathogenic variants. Microbiome meta‐analysis showed distinct microbial populations, decreases in commensal microbiota, and higher colonization by pathogenic species associated with CI; these were correlated with increased production of inflammatory cytokines and Th17‐ and JAK/STAT‐signaling pathways in peripheral blood mononuclear cells. In the wounds of CI patients, we identified specific changes in microbiota and alterations in inflammatory pathways, which are likely responsible for impaired wound healing.
Conclusions Together, this research enhances our understanding of the microbiological, immunological, and molec‐ ular properties of CI and should provide critical information for improving therapeutic management of CI patients.
Keywords Cytokine signaling, Genetic mutation, Immune system activation and profiling, Stem cell inflammatory memory, Sepsis, Microbial infection and dysbiosis, Wound healing, Dermatologic diseases, Scaling and erythema, Physiologic protein mutations |
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