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 |
Verknüpfte Erkrankungen:
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
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45. |
OMIM.ORG article
Omim 607358
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46. |
Orphanet article
Orphanet ID 119562
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47. |
Wikipedia Artikel
Wikipedia DE (Autoimmun-Regulator)
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Update: 14. August 2020