Author/Editor		Trebušak-Podkrajšek, Katarina; Bratanič, Nina; Kržišnik, Ciril; Battelino, Tadej
Title		Genetic diagnostics of autoimmune polyglandular syndrome
Translated title		Genetska diagnostika bolnikov z avtoimunskim poliglandularnim sindromom
Type		članek
Source		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year		2005
Volume		str. 291-4
Language		eng
Abstract		Autoimmune polyglandular syndrome (APS) is a rare constellation of autoimmune disorders. Several non-endocrine disorders may additionally be present. Mutational analyses of the AIRE gene in 21 APS-1 patients and 21 patients with other APS types was performed, thus providing a definitive diagnosis of APS-1. In APS-1 patients, three novel mutations were identified among nine different AIRE gene mutations. One of the novel mutations was an intronic mutation affecting proper splicing, as demonstrated by AIRE-1 mRNA analyses. Among patients with other APS types, only one heterozygous mutation was detected, so no undiagnosed APS-1 patients were present.
Descriptors		POLYENDOCRINOPATHIES, AUTOIMMUNE