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Filaggrinopathies-FLG/FLG2: Diagnostic Complexities and Immunotherapy
Zahra Nouri1, Sajjad Biglari2, Mohammad Amin Tabatabaiefar3
1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Abstract:
FLG and FLG2 proteins are expressed in the outer layers of the epidermis, where they are vital in epidermal differentiation and skin barrier formation. Filaggrinopathies involving dysfunctions in these proteins are associated with a spectrum of phenotypic presentations, from monogenic to multifactorial conditions. This review examines biosynthesis and function of FLG and FLG2 proteins and evaluates their molecular pathogenesis in filaggrinopathies. Moreover, genotype-phenotype correlations are assessed, emphasizing genetic diagnosis complexities and diverse immune dysregulation patterns. Finally, it examines ongoing immunotherapeutic approaches by targeting different cytokines as promising treatment options for filaggrinopathies management.
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