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

We analyzed blood lymphocyte phenotypes and function in relation to clinical infections in 11 Finnish NS patients, aged 3 to 17 years, and healthy age-matched controls. The proportion of B cells (CD19⁺) and naïve B cells (CD27^-, IgD⁺) were high while memory B cells (CD27⁺) and switched memory B cells (CD27⁺IgM^-IgD^-), crucial for the secondary response to pathogens, was below or in the lowest quartile of the referen

SUBMITTER: Eranko E 

PROVIDER: S-EPMC6258305 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature