PMID- 20718774
OWN - NLM
STAT- MEDLINE
DCOM- 20110211
LR  - 20231213
IS  - 1365-2265 (Electronic)
IS  - 0300-0664 (Linking)
VI  - 73
IP  - 5
DP  - 2010 Nov
TI  - AIRE gene mutations and autoantibodies to interferon omega in patients with 
      chronic hypoparathyroidism without APECED.
PG  - 630-6
LID - 10.1111/j.1365-2265.2010.03862.x [doi]
AB  - OBJECTIVE: 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: Twenty-four 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. Human leucocyte 
      antigens (HLA) were determined for all 24 patients and 105 healthy controls. 
      Autoantibodies to a range of antigens including NACHT leucine-rich-repeat 
      protein-5 (NALP5) and interferon omega (IFNomega) were tested in all 24 patients. 
      RESULTS: AIRE gene mutations were found in 6 of 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 Autoimmune-Poly-Endocrinopathy-Candidiasis-Ectodermal-Dystrophy 
      and all three were also positive for IFNomega-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 NACHT 
      leucine-rich-repeat protein 5 and IFNomega autoantibodies. Heterozygous AIRE 
      mutations were found in 10 of 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 
      young women with associated autoimmune diseases.
CI  - (c) 2010 Blackwell Publishing Ltd.
FAU - Cervato, Sara
AU  - Cervato S
AD  - Department of Medical and Surgical Sciences Blood Transfusion Center, Azienda 
      Ospedaliera-Universita di Padova, Padova, Italy.
FAU - Morlin, Luca
AU  - Morlin L
FAU - Albergoni, Maria Paola
AU  - Albergoni MP
FAU - Masiero, Stefano
AU  - Masiero S
FAU - Greggio, Nella
AU  - Greggio N
FAU - Meossi, Cristiano
AU  - Meossi C
FAU - Chen, Shu
AU  - Chen S
FAU - del Pilar Larosa, Maria
AU  - del Pilar Larosa M
FAU - Furmaniak, Jadwiga
AU  - Furmaniak J
FAU - Rees Smith, Bernard
AU  - Rees Smith B
FAU - Alimohammadi, Mohammad
AU  - Alimohammadi M
FAU - Kampe, Olle
AU  - Kampe O
FAU - Valenzise, Mariella
AU  - Valenzise M
FAU - Betterle, Corrado
AU  - Betterle C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
RN  - 0 (Autoantibodies)
RN  - 0 (HLA Antigens)
RN  - 0 (Interferon Type I)
RN  - 0 (Transcription Factors)
RN  - 0 (interferon omega 1)
SB  - IM
CIN - Clin Endocrinol (Oxf). 2011 Apr;74(4):532-3. PMID: 21070315
MH  - Adult
MH  - Aged
MH  - Autoantibodies/*blood
MH  - Child
MH  - Child, Preschool
MH  - Chronic Disease
MH  - Female
MH  - HLA Antigens/blood
MH  - Humans
MH  - Hypoparathyroidism/*genetics/immunology
MH  - Interferon Type I/*immunology
MH  - Male
MH  - Middle Aged
MH  - Polyendocrinopathies, Autoimmune/*genetics/immunology
MH  - Transcription Factors/*genetics
MH  - AIRE Protein
EDAT- 2010/08/20 06:00
MHDA- 2011/02/12 06:00
CRDT- 2010/08/20 06:00
PHST- 2010/08/20 06:00 [entrez]
PHST- 2010/08/20 06:00 [pubmed]
PHST- 2011/02/12 06:00 [medline]
AID - CEN3862 [pii]
AID - 10.1111/j.1365-2265.2010.03862.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2010 Nov;73(5):630-6. doi: 
      10.1111/j.1365-2265.2010.03862.x.