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  1. Article

    Open Access

    Immune cell phenotype and functional defects in Netherton syndrome

    Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis. NS patients are prone to bacterial infections, but the unders...

    Elina Eränkö, Mette Ilander, Mirja Tuomiranta… in Orphanet Journal of Rare Diseases (2018)

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