Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations.

Background: Autoimmune polyglandular syndrome type 1 (APS-1) (OMIM 240300) is a rare autosomal recessive disorder associated with three major manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. There are, however, multiple minor components of APS-1 that induce significant phenotype variability. Subsequently, the diagnosis of APS-1 during early stages is often challenging.

[Clinical polymorphism of autoimmune polyglandular syndrome of type 1. Role of molecular genetic diagnosis].

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare monogenous disease with autosomal-recessive inheritance. The gene responsible for the development of this disease is designated as the gene AIRE and encodes for the protein autoimmune regulator whose function is unknown. The disease more frequently manifests itself in childhood.

[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].

The data on biochemical and molecular-genetic diagnostics of a hereditary lisosomal storage disease, late infantile neuronal ceroid lipofuscinosis (CLN2) are presented. The disease is associated with a hereditary deficiency of pepstatin-unsensitive peptidase--tripeptidylpeptidase 1 (TPP1)--caused by mutations in the TPP1-coding gene CLN2. Among the 30 patients with clinical manifestations of CLN, six patients with a pronounced decrease in TPP1 activity were revealed; these data were interpreted as indicating the presence of CLN2 in these patients.