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Immune cell phenotype and functional defects in Netherton syndrome

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 analy...

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Detalles Bibliográficos
Autores principales: Eränkö, Elina, Ilander, Mette, Tuomiranta, Mirja, Mäkitie, Antti, Lassila, Tea, Kreutzman, Anna, Klemetti, Paula, Mustjoki, Satu, Hannula-Jouppi, Katariina, Ranki, Annamari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258305/
https://www.ncbi.nlm.nih.gov/pubmed/30477583
http://dx.doi.org/10.1186/s13023-018-0956-6