Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

Clinical Genetics

Volumn 76, Issue 5, 2009, Pages 431-440

  Faiyaz Ul Haque, M ^a,b   Bin Abbas, B ^a   Al Abdullatif, A ^a   Abdullah Abalkhail, H ^a   Toulimat, M ^a   Al Gazlan, S ^a   Almutawa, A M ^a   Al Sagheir, A ^a   Peltekova, I ^c   Al Dayel, F ^a   Zaidi, S H E ^d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c QUEEN S UNIVERSITY   (Canada)

^d UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

AIRE mutations; Alopecia universalis; Autoimmune polyendocrinopathy syndrome; Autoimmune regulator

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN;

ADDISON DISEASE; ADOLESCENT; ADULT; ALOPECIA; ALOPECIA TOTALIS; ARAB; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOSOMAL RECESSIVE INHERITANCE; CELIAC DISEASE; CHILD; CLINICAL ARTICLE; CYANOCOBALAMIN DEFICIENCY; FEMALE; GENE MUTATION; HAIR FOLLICLE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOGONADISM; HYPOPARATHYROIDISM; HYPOTHYROIDISM; INFLAMMATION; INSULIN DEPENDENT DIABETES MELLITUS; IRIDOCYCLITIS; KIDNEY CALCIFICATION; MALE; MISSENSE MUTATION; MUCOCUTANEOUS CANDIDIASIS; MUTATIONAL ANALYSIS; NAIL DISEASE; NONSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BIOPSY;

ADOLESCENT; ADULT; ALOPECIA; CHILD; HUMANS; MALE; MUTATION; PEDIGREE; POLYENDOCRINOPATHIES, AUTOIMMUNE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 70449431334     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01278.x     Document Type: Article

References (33)

1. Collins SM, Dominguez M, Ilmarinen T. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Br J Dermatol 2006, 154:1088-1093.
2. Halonen M, Eskelin P, Myhre AG. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 2002, 87:2568-2574.
3. Cervato S, Mariniello B, Lazzarotto F. 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. Clin Endocrinol (Oxf) 2009, 70:421-428.
4. Cihakova D, Trebusak K, Heino M. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat 2001, 18:225-232.
5. Boe AS, Knappskog PM, Myhre AG. Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I. Eur J Endocrinol 2002, 146:519-522.
6. Lintas C, Cappa M, Comparcola D. 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). Eur J Pediatr 2008, 167:949-953.
7. Wolff AS, Erichsen MM, Meager A. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab 2007, 92:595-603.
8. Stolarski B, Pronicka E, Korniszewski L. Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. Clin Genet 2006, 70:348-354.
9. Ward L, Paquette J, Seidman E. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J Clin Endocrinol Metab 1999, 84:844-852.
10. Ulinski T, Perrin L, Morris M. Autoimmune polyendo-crinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity. J Clin Endocrinol Metab 2006, 91:192-195.
11. Meloni A, Perniola R, Faa V. Delineation of the molecular defects in the AIRE gene in autoimmune polyendo-crinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. J Clin Endocrinol Metab 2002, 87:841-846.
12. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2006, 91:2843-2850.
13. Vogel A, Strassburg CP, Obermayer-Straub P. The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components. J Mol Med 2002, 80:201-211.
14. Mathis D, Benoist C. Aire. Annu Rev Immunol 2009, 27:287-312.
15. Bjorses P, Halonen M, Palvimo JJ. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 2000, 66:378-392.
16. Myhre AG, Halonen M, Eskelin P. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. Clin Endocrinol (Oxf) 2001, 54:211-217.
17. Boe Wolff AS, Oftedal B, Johansson S. AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes Immun 2008, 9:130-136.
18. Ng'weina FM, Pura M, Anette SBW. Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. Eur J Endocrinol 2008, 158:705-709.
19. Podkrajsek KT, Bratanic N, Krzisnik C. 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. J Clin Endocrinol Metab 2005, 90:4930-4935.
20. Heino M, Scott HS, Chen Q. Mutation analyses of North American APS-1 patients. Hum Mutat 1999, 13:69-74.
21. Wang CY, Davoodi-Semiromi A, Huang W. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). Hum Genet 1998, 103:681-685.
22. Sato K, Nakajima K, Imamura H. 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. Endocr J 2002, 49:625-633.
23. Bjorses P, Aaltonen J, Horelli-Kuitunen N. Gene defect behind APECED: a new clue to autoimmunity. Hum Mol Genet 1998, 7:1547-1553.
24. Rosatelli MC, Meloni A, Meloni A. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 1998, 103:428-434.
25. Pearce SH, Cheetham T, Imrie H. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 1998, 63:1675-1684.
26. O'Sullivan DJ, Cronin C, Buckley D. Unusual manifestations of type 1 autoimmune polyendocrinopathy. Ir Med J 1997, 90:101-103.
27. Vogel A, Strassburg CP, Deiss D. A novel AIRE mutation in an APECED patient with candidiasis, adrenal failure, hepatitis, diabetes mellitus and osteosclerosis. Exp Clin Endocrinol Diabetes 2003, 111:174-176.
28. Myhre AG, Bjorses P, Dalen A. Three sisters with Addison's disease. J Clin Endocrinol Metab 1998, 83:4204-4206.
29. Whiting DA. Histopathologic features of alopecia areata: a new look. Arch Dermatol 2003, 139:1555-1559.
30. Kwong RA, Kossard S. Alopecia areata masquerading as frontal fibrosing alopecia. Australas J Dermatol 2006, 47:63-66.
31. Meloni A, Fiorillo E, Corda D. Two novel mutations of the AIRE protein affecting its homodimerization properties. Hum Mutat 2005, 25:319.
32. Tazi-Ahnini R, Cork MJ, Gawkrodger DJ. Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. Tissue Antigens 2002, 60:489-495.
33. Pforr J, Blaumeiser B, Becker T. Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata. Tissue Antigens 2006, 68:58-61.