A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.

ABSTRACT:

Context

Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse.

Objective

To describe the phenotypes of APS1 and correlate the clinical features with autoantibody profiles and autoimmune regulator (AIRE) mutations during extended follow-up (1996-2016).

Patients

All known Norwegian patients with APS1.

Results

Fifty-two patients from 34 families were identified. The majority presented with one of the major disease components during childhood. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent com

SUBMITTER: Bruserud O 

PROVIDER: S-EPMC4971337 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature