Autoimmune polyglandular syndrome type 1 and the autoimmune regulator.
Clin Lab Med
; 24(1): 305-17, 2004 Mar.
Article
en En
| MEDLINE
| ID: mdl-15157567
ABSTRACT
The autoimmune polyglandular syndrome type I (APSI) is an auto-somal recessive disorder that is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The gene that is responsible for APSI has been identified as autoimmune regulator (AIRE). More than 50 different mutations have been discovered in patients who have APSI and the defects include nonsense and missense mutations, small insertions and deletions that lead to frameshift, and splice site mutations. The 545-amino acid protein that is encoded by AIRE contains several structural motifs that are suggestive of a transcriptional regulator. We provide an overview of the clinical and genetic features ofAPSI as well as the structure and functions of the AIRE protein.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
/
Poliendocrinopatías Autoinmunes
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Clin Lab Med
Año:
2004
Tipo del documento:
Article
País de afiliación:
Estados Unidos