Immune cell phenotype and functional defects in Netherton syndrome

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 W...

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Bibliographic Details
Main Authors: Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi, Annamari Ranki
Format: Article
Language:English
Published: BMC 2018-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13023-018-0956-6