Comel-Netherton syndrome: A local skin barrier defect in the absence of an underlying systemic immunodeficiency.

ABSTRACT:

Background

Comel-Netherton syndrome (NS) is a rare autosomal disease, characterized by severe skin disease, hair shaft defects, atopic diathesis, and increased susceptibility for skin infections. Since patients with NS suffer from recurrent infections, it has been hypothesized that an underlying immunodeficiency attributes to this. Here, we studied clinical and immunological characteristics of the cohort of NS patients in the Netherlands in order to identify whether potential immunodeficiencies result in the increased risk of infectious complications.

Methods

Phenotypes were scored for severity of skin condition, specific hair shaft defects, atopy, and recurrent infections. Patients' blood samples were collected for quantification of serum immunoglobulin (Ig) levels, specifi

SUBMITTER: Stuvel K 

PROVIDER: S-EPMC7384150 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature