AIRE GENE MUTATIONS AND AUTOANTIBODIES TO INTERFERON OMEGA IN PATIENTS WITH CHRONIC HYPOPARATHYROIDISM WITHOUT APECED - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Clinical Endocrinology Année : 2010

AIRE GENE MUTATIONS AND AUTOANTIBODIES TO INTERFERON OMEGA IN PATIENTS WITH CHRONIC HYPOPARATHYROIDISM WITHOUT APECED

Sara Cervato
  • Fonction : Auteur
  • PersonId : 898637
Luca Morlin
  • Fonction : Auteur
  • PersonId : 898638
Maria Paola Albergoni
  • Fonction : Auteur
  • PersonId : 898639
Stefano Masiero
  • Fonction : Auteur
  • PersonId : 898640
Nella Greggio
  • Fonction : Auteur
  • PersonId : 898641
Cristiano Meossi
  • Fonction : Auteur
  • PersonId : 898642
Shu Chen
  • Fonction : Auteur
  • PersonId : 898643
Jadwiga Furmaniak
  • Fonction : Auteur
  • PersonId : 898644
Bernard Rees Smith
  • Fonction : Auteur
  • PersonId : 898645
Mohammad Alimohammadi
  • Fonction : Auteur
  • PersonId : 898646
Olle Kämpe
  • Fonction : Auteur
  • PersonId : 898647

Résumé

To assess autoimmune regulator (AIRE) gene mutations, class II HLA haplotypes, and organ or non-organ specific autoantibodies in patients with chronic hypoparathyroidism (CH) without associated Addison's disease (AD) or chronic candidiasis (CC). Design, Patients and Measurements: 24 patients who had CH without AD or CC were included in the study. AIRE gene mutations in all 14 exons were studied using PCR in 24 patients, 105 healthy controls and 15 first-degree relatives of CH patients with AIRE mutations. HLA were determined for all 24 patients and 105 healthy controls. Autoantibodies to a range of antigens including NACHT leucine-rich-repeat protein5 (NALP-5) and interferon omega (IFNω)were tested in all 24 patients. Results: AIRE gene mutations were found in 6/24 (25%) patients, all females, and this was significantly higher (p<0.001) compared with AIRE mutations found in healthy controls (2/105). Three patients (12.5%) had homozygous AIRE mutations characteristic of APECED and all three were also positive for IFNω-autoantibodies. Three patients (12.5%) had heterozygous AIRE mutations; two of these were novel mutations. One of the patients with heterozygous AIRE mutations was positive for both NALP5 and IFNω autoantibodies. Heterozygous AIRE mutations were found in 10/15 first-degree relatives of CH patients with AIRE mutations although none was affected by CH. Class II HLA haplotypes were not statistically different in patients with CH compared to healthy controls. Conclusions: Analysis of AIRE gene mutations together with serum autoantibody profile should be helpful in the assessment of patients with CH in particular in young women with associated autoimmune diseases.

Mots clés

Fichier principal
Vignette du fichier
PEER_stage2_10.1111%2Fj.1365-2265.2010.03862.x.pdf (340.92 Ko) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)
Loading...

Dates et versions

hal-00583577 , version 1 (06-04-2011)

Identifiants

Citer

Sara Cervato, Luca Morlin, Maria Paola Albergoni, Stefano Masiero, Nella Greggio, et al.. AIRE GENE MUTATIONS AND AUTOANTIBODIES TO INTERFERON OMEGA IN PATIENTS WITH CHRONIC HYPOPARATHYROIDISM WITHOUT APECED. Clinical Endocrinology, 2010, 73 (5), pp.630. ⟨10.1111/j.1365-2265.2010.03862.x⟩. ⟨hal-00583577⟩

Collections

PEER
58 Consultations
306 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More