ID-bases-logo
- databases for immunodeficiency-causing variations

   AIREbase
   Variation registry for  Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)


AIREbase mutation publications

[2010] [2009] [2008] [2007] [2006] [2005] [2004] [2002] [2001] [2000] [1999] [1998] [1997] [1988]

Search PubMed latest citations for AIRE mutations

    2010

  • Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
    Tóth B, Wolff AS, Halász Z, Tar A, Szüts P, Ilyés I, Erdos M, Szegedi G, Husebye ES, Zeher M, Maródi L
    Clin Endocrinol (Oxf) 2010(5): 641-7 [PubMed abstract].

    2009

  • Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.
    Faiyaz-Ul-Haque M, Bin-Abbas B, Al-Abdullatif A, Abdullah Abalkhail H, Toulimat M, Al-Gazlan S, Almutawa AM, Al-Sagheir A, Peltekova I, Al-Dayel F, Zaidi SH
    Clin Genet 2009(5): 431-40 [PubMed abstract].

  • Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.
    Zaidi G, Sahu RP, Zhang L, George G, Bhavani N, Shah N, Bhatia V, Bhansali A, Jevalikar G, Jayakumar RV, Eisenbarth GS, Bhatia E
    Clin Genet 2009(5): 441-8 [PubMed abstract].

  • Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.
    Cervato S, Mariniello B, Lazzarotto F, Morlin L, Zanchetta R, Radetti G, De Luca F, Valenzise M, Giordano R, Rizzo D, Giordano C, Betterle C
    Clin Endocrinol (Oxf) 2009(3): 421-8 [PubMed abstract].

    2008

  • Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.
    Podkrajsek KT, Milenković T, Odink RJ, Claasen-van der Grinten HL, Bratanic N, Hovnik T, Battelino T
    Eur J Endocrinol 2008(5): 633-9 [PubMed abstract].

  • Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers.
    De Luca F, Valenzise M, Alaggio R, Arrigo T, Crisafulli G, Salzano G, Cervato S, Mariniello B, Lazzarotto F, Betterle C
    Eur J Pediatr 2008(11): 1283-8 [PubMed abstract].

  • An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE).
    Lintas C, Cappa M, Comparcola D, Nobili V, Fierabracci A
    Eur J Pediatr 2008(8): 949-53 [PubMed abstract].

  • Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease.
    F Magitta N, Pura M, S Bøe Wolff A, Vanuga P, Meager A, M Knappskog P, Husebye ES
    Eur J Endocrinol 2008(5): 705-9 [PubMed abstract].

  • Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE.
    Capalbo D, Elefante A, Spagnuolo MI, Mazza C, Betterle C, Pignata C, Salerno M
    Clin Endocrinol (Oxf) 2008(3): 511-3 [PubMed abstract].

    2007

  • Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.
    Wolff AS, Erichsen MM, Meager A, Magitta NF, Myhre AG, Bollerslev J, Fougner KJ, Lima K, Knappskog PM, Husebye ES
    J Clin Endocrinol Metab 2007(2): 595-603 [PubMed abstract].

    2006

  • Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
    Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowińska E, Włodarski P, Skórka A, Gremida M, Krajewski P, Ploski R
    Clin Genet 2006(4): 348-54 [PubMed abstract].

    2005

  • Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
    Podkrajsek KT, Bratanic N, Krzisnik C, Battelino T
    J Clin Endocrinol Metab 2005(8): 4930-5 [PubMed abstract].

  • Two novel mutations of the AIRE protein affecting its homodimerization properties.
    Meloni A, Fiorillo E, Corda D, Perniola R, Cao A, Rosatelli MC
    Hum Mutat 2005(3): 319 [PubMed abstract].

  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation.
    Tawfik S, Azim MA, Peterson P, Donaldson MD
    Horm Res 2005(2): 96-9 [PubMed abstract].

    2004

  • Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.
    Sato U, Horikawa R, Katsumata N, Asakura Y, Kitanaka S, Tanaka T
    J Pediatr Endocrinol Metab 2004(6): 917-21 [PubMed abstract].

    2002

  • A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.
    Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, Yamada E, Kanaji Y, Takano K
    Endocr J 2002(6): 625-33 [PubMed abstract].

  • Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.
    Kogawa K, Kudoh J, Nagafuchi S, Ohga S, Katsuta H, Ishibashi H, Harada M, Hara T, Shimizu N
    Clin Immunol 2002(3 Pt 1): 277-83 [PubMed abstract].

  • Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
    Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC
    J Clin Endocrinol Metab 2002(2): 841-6 [PubMed abstract].

  • Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.
    Bøe AS, Knappskog PM, Myhre AG, Sørheim JI, Husebye ES
    Eur J Endocrinol 2002(4): 519-22 [PubMed abstract].

    2001

  • Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1.
    Vogel A, Liermann H, Harms A, Strassburg CP, Manns MP, Obermayer-Straub P
    Hepatology 2001(5): 1047-52 [PubMed abstract].

  • 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.
    Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C
    J Clin Endocrinol Metab 2001(10): 4747-52 [PubMed abstract].

  • Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
    Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T, Tar A, Halász Z, Blümel P, Tawfik S, Krohn K, Lebl J, Peterson P
    Hum Mutat 2001(3): 225-32 [PubMed abstract].

  • Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
    Saugier-Veber P, Drouot N, Wolf LM, Kuhn JM, Frébourg T, Lefebvre H
    Eur J Endocrinol 2001(4): 347-51 [PubMed abstract].

  • Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome.
    Meyer G, Donner H, Herwig J, Böhles H, Usadel KH, Badenhoop K
    Clin Endocrinol (Oxf) 2001(3): 335-8 [PubMed abstract].

    2000

  • Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison's disease.
    Söderbergh A, Rorsman F, Halonen M, Ekwall O, Björses P, Kämpe O, Husebye ES
    J Clin Endocrinol Metab 2000(1): 460-3 [PubMed abstract].

  • Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
    Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T
    J Clin Endocrinol Metab 2000(8): 2922-6 [PubMed abstract].

    1999

  • Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy.
    Ward L, Paquette J, Seidman E, Huot C, Alvarez F, Crock P, Delvin E, Kämpe O, Deal C
    J Clin Endocrinol Metab 1999(3): 844-52 [PubMed abstract].

  • Mutation analyses of North American APS-1 patients.
    Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K
    Hum Mutat 1999(1): 69-74 [PubMed abstract].

    1998

  • A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.
    Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P
    Am J Hum Genet 1998(6): 1675-84 [PubMed abstract].

  • Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).
    Wang CY, Davoodi-Semiromi A, Huang W, Connor E, Shi JD, She JX
    Hum Genet 1998(6): 681-5 [PubMed abstract].

  • Three sisters with Addison's disease.
    Myhre AG, Björses P, Dalen A, Husebye ES
    J Clin Endocrinol Metab 1998(12): 4204-6 [PubMed abstract].

  • A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
    Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, Heino M, Krohn KJ, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE
    Hum Genet 1998(4): 428-34 [PubMed abstract].

  • Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
    Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJ, Antonarakis SE
    Mol Endocrinol 1998(8): 1112-9 [PubMed abstract].

    1997

  • Positional cloning of the APECED gene.
    Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N
    Nat Genet 1997(4): 393-8 [PubMed abstract].

    1988

  • Antibody that blocks stimulation of cortisol secretion by adrenocorticotrophic hormone in Addison's disease.
    Kendall-Taylor P, Lambert A, Mitchell R, Robertson WR
    Br Med J (Clin Res Ed) 1988(6635): 1489-91 [PubMed abstract].

This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 01.07.2014