Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Autoimmun-polyendocrinopathie Syndrom 1
AIRE

Referenzen:

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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