Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Autoimmune polyendocrinopathy syndrome 1
AIRE

References:

1.

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

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2.

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.

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3.

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

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4.

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

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5.

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

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6.

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.

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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.

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12.

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).

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13.

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.

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14.

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.

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15.

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

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16.

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

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17.

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

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18.

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.

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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.

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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.

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32.

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

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33.

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.

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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

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39.

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

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40.

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

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41.

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

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42.

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

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43.

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.

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Update: Sept. 26, 2018