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Autoimmunregulator

Das AIRE-Gen kodiert einen Transkriptionsfaktor, der als Regulator der Immunantwort fungiert. Mutationen führen zur Autoimmunendokrinopathie Typ 1, die sowohl autosomal dominant als auch recessiv vererbt werden kann.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Autoimmun-Polyendocrinopathie-Syndrom 1
AIRE

Referenzen:

1.

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

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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).

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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.

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4.

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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5.

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

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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.

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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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.

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23.

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

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24.

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

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25.

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

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26.

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

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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.

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28.

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

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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.

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30.

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

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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.

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32.

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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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.

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34.

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

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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.

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36.

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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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.

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38.

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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39.

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

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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.

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41.

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

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42.

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

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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.

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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 Artikel

Wikipedia DE (Autoimmun-Regulator) external link
Update: 14. August 2020
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