TY - T1 - Immune cell phenotype and functional defects in Netherton syndrome SN - / UR - http://hdl.handle.net/10138/269349 T3 - A1 - Eränkö, Elina; Ilander, Mette; Tuomiranta, Mirja; Mäkitie, Antti; Lassila, Tea; Kreutzman, Anna; Klemetti, Paula; Mustjoki, Satu; Hannula-Jouppi, Katariina; Ranki, Annamari A2 - PB - BioMed Central Y1 - 2018 LA - AB - Abstract Background 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 understanding of the underlying immune deficiency is incomplete. Results We analyzed blood lymphocyte phenotypes and function in relation to clinical infections in 1... VO - IS - SP - OP - KW - Netherton syndrome; T cell; B cell; NK cell; Cytotoxicity; Cytokine; Immunoglobulin therapy N1 - PP - ER -