Genomic and Phenotypic Characterization of Investigator Global Assessment (IGA) Scale-Based Endotypes in Atopic Dermatitis

    January 2021 in “ Journal of The American Academy of Dermatology ”
    Sandra P. Smieszek, Bartlomiej Przychodzen, Sarah E Welsh, Jennifer L. Brzezynski, Alyssa R. Kaden, Michael Mohrman, Jingyuan Wang, Changfu Xiao, Sonja Ständer, Gunther Birznieks, Mihael H. Polymeropoulos
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    TLDR Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
    The study "Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis" aimed to define distinct atopic dermatitis (AD) endotypes using decision tree/supervised learning of extensive clinical, molecular, and genetic data. The study involved patients with varying degrees of AD severity, and found a significant difference between AD severity and eosinophil counts, with more severe cases (IGA3/4) having higher eosinophil counts than milder cases (IGA1/2). The study also found a significant difference in the distribution of patients with elevated serum immunoglobulin E. More severe AD was associated with a higher prevalence of FLG loss of function variants. The study also identified polymorphisms in IL5RA associated with a higher count of eosinophils in patients with severe AD. The findings suggest that the immune response and skin barrier dysfunction increase in more severe AD, indicating that treatment for such patients may require more immunosuppressive/immunomodulating therapies.
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