Skin Microbiota and Clinical Associations in Netherton Syndrome

Abstract

Abstract Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect, bacterial skin infections and allergic sensitization in early childhood. Recent data on adult NS patients suggests that Staphylococcus aureus presence further promotes barrier disruption and skin inflammation. We analyzed the skin microbiota by shotgun sequencing in twelve NS patients from eight Finnish families with healthy family controls (HFC) as a reference and correlated the findings with allergen-specific IgE prevalence, immune cell phenotype, and infection history of the patients. Compared to HFC, the skin microbiome diversity and the normal skin-site variability were measurably decreased in NS patients. No correlation was found between allergic sensitization and skin microbiota as such, but low circulating CD57+/CD8+ T cells significantly correlated with lower microbial diversity and less S. aureus abundance (p