title: Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl - 12 years of observation.
abstract: Autoimmune polyglandular syndromes (APS) consist of a variety of endocrine and non-endocrine disorders. The syndromes are complex and their occurrence in life does not follow any pattern. Early detection of such disorders may prevent many serious clinical consequences which are usually a result of delayed diagnosis. We present the case of a female patient whose clinical symptoms very strongly suggested APS, however neither autoimmune background except elevated anti-thyroid peroxidase and anti-thyroglobulin antibodies of multiglandular deficiency, nor critical mutations in the AIRE gene have been confirmed or detected, yet we identified five polymorphisms and two mutations in exon1 of gene AIRE during 12 years of observation and treatment.
authors.affiliation: Department of Basic Medical Sciences, Wroclaw Medical University, Poland. ebarg@dilnet.wroc.pl.
authors.forename: Ewa
authors.initials: E
authors.lastname: Barg
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Skarżynska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Pollak
authors.forename: Ryszard
authors.initials: R
authors.lastname: Ślęzak
authors.forename: Ewa
authors.initials: E
authors.lastname: Głąb
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Petriczko
authors.forename: Anita
authors.initials: A
authors.lastname: Józwa
authors.forename: Maria M
authors.initials: MM
authors.lastname: Sąsiadek
mesh_terms: D005260:Female; D006801:Humans; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics*; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein