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.

journal_name

Endokrynol Pol

journal_title

Endokrynologia Polska

authors

Barg E,Skarżynska M,Pollak A,Ślęzak R,Głąb E,Petriczko E,Józwa A,Sąsiadek MM

doi

10.5603/EP.2014.0070

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

514-8

issue

6

eissn

0423-104X

issn

2299-8306

pii

VM/OJS/J/40645

journal_volume

65

pub_type

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