Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Autoimmune regulator

The AIRE gene encodes a transcription factor that acts as a regulator of immune response. Mutations cause autosomal recessive and dominant autoimmune polyendocrinopathy syndrome type 1.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Autoimmune polyendocrinopathy syndrome 1
AIRE

References:

1.

Uchida D et al. (2004) AIRE functions as an E3 ubiquitin ligase.

external link
2.

Wang CY et al. (1999) Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (ASP1).

external link
3.

Nithiyananthan R et al. (2000) A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association.

external link
4.

Ishii T et al. (2000) Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

external link
5.

Heino M et al. (2001) APECED mutations in the autoimmune regulator (AIRE) gene.

external link
6.

Meloni A et al. (2002) Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

external link
7.

Ramsey C et al. (2002) Aire deficient mice develop multiple features of APECED phenotype and show altered immune response.

external link
8.

Anderson MS et al. (2002) Projection of an immunological self shadow within the thymus by the aire protein.

external link
9.

Ramsey C et al. (2002) Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting.

external link
10.

Liston A et al. (2003) Aire regulates negative selection of organ-specific T cells.

external link
11.

Chin RK et al. (2003) Lymphotoxin pathway directs thymic Aire expression.

external link
12.

Nagamine K et al. (1997) Positional cloning of the APECED gene.

external link
13.

Cavadini P et al. (2005) AIRE deficiency in thymus of 2 patients with Omenn syndrome.

external link
14.

Mi QS et al. (2006) The autoimmune regulator (Aire) controls iNKT cell development and maturation.

external link
15.

Giraud M et al. (2007) An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.

external link
16.

Gray DH et al. (2007) Danger-free autoimmune disease in Aire-deficient mice.

external link
17.

Su MA et al. (2008) Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire.

external link
18.

Gardner JM et al. (2008) Deletional tolerance mediated by extrathymic Aire-expressing cells.

external link
19.

Org T et al. (2009) AIRE activated tissue specific genes have histone modifications associated with inactive chromatin.

external link
20.

Abramson J et al. (2010) Aire's partners in the molecular control of immunological tolerance.

external link
21.

Malchow S et al. (2013) Aire-dependent thymic development of tumor-associated regulatory T cells.

external link
22.

Giménez-Barcons M et al. (2014) Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.

external link
23.

Björses P et al. (1999) Localization of the APECED protein in distinct nuclear structures.

external link
24.

Brodehl J et al. (1967) [An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism].

external link
25.

None (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.

external link
26.

Scott HS et al. (1998) Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.

external link
27.

Pearce SH et al. (1998) A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.

external link
28.

Rosatelli MC et al. (1998) A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

external link
29.

Björses P et al. (2000) Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.

external link
30.

Cihakova D et al. (2001) Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.

external link
31.

Cetani F et al. (2001) A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.

external link
32.

Halonen M et al. (2002) AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.

external link
33.

Harris M et al. (2003) Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies.

external link
34.

Ilmarinen T et al. (2005) Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

external link
35.

Stolarski B et al. (2006) Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.

external link
36.

Wolff AS et al. (2007) Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.

external link
37.

Eggermann T et al. (2007) Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

external link
38.

Faiyaz-Ul-Haque M et al. (2009) Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

external link
39.

Zaidi G et al. (2009) Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.

external link
40.

Aaltonen J et al. (1997) High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH.

external link
41.

Heino M et al. (1999) Mutation analyses of North American APS-1 patients.

external link
42.

Wang CY et al. (1998) Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).

external link
43.

Rinderle C et al. (1999) AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.

external link
44.

NCBI article

NCBI 326 external link
45.

OMIM.ORG article

Omim 607358 external link
46.

Orphanet article

Orphanet ID 119562 external link
47.

Wikipedia article

Wikipedia EN (Autoimmune_regulator) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues