Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autoimmune polyendocrinopathy syndrome 1

Autoimmune polyendocrinopathy syndrome 1 is an autosomal dominant or recessive disorder caused by mutations of the AIRE gene. Clinical features include insufficiency of several endocrine systems due to autoantibodies. Additionally metaphyseal dysplasia and chronic candida infections are common.

Systematic

Autoimmune polyendokrinopathy
Autoimmune polyendocrinopathy syndrome 1
AIRE
Autoimmune polyendocrinopathy syndrome 2
X-linked immunodysregulation, polyendocrinopathy, and enteropathy

References:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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.

[^]
6.

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

[^]
7.

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.

[^]
8.

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

[^]
9.

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.

[^]
10.

Halonen M et. al. (2002) AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.

[^]
11.

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.

[^]
12.

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

[^]
13.

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.

[^]
14.

Wolff AS et. al. (2007) Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.

[^]
15.

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.

[^]
16.

Faiyaz-Ul-Haque M et. al. (2009) Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

[^]
17.

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

[^]
18.

Krohn K et. al. (1992) Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase.

[^]
19.

Arulanantham K et. al. (1979) Evidence for defective immunoregulation in the syndrome of familial candidiasis endocrinopathy.

[^]
20.

Zlotogora J et. al. (1992) Polyglandular autoimmune syndrome type I among Iranian Jews.

[^]
21.

Ahonen P et. al. (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

[^]
22.

Maclaren NK et. al. (1986) Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome.

[^]
23.

Shapiro MS et. al. (1987) The polyglandular deficiency syndrome: a new variant in Persian Jews.

[^]
24.

None (1985) Autoimmune polyendocrinopathycandidosisectodermal dystrophy (APECED): autosomal recessive inheritance.

[^]
25.

None (1966) Juvenile familial endocrinopathy.

[^]
26.

Marieb NJ et. al. (1974) Isolated hypoaldosteronism associated with idiopathic hypoparathyroidism.

[^]
27.

Castells S et. al. (1971) Familial moniliasis, defective delayed hypersensitivity, and adrenocorticotropic hormone deficiency.

[^]
28.

Spinner MW et. al. (1968) Clinical and genetic heterogeneity in idiopathic Addison's disease and hypoparathyroidism.

[^]
29.

Louria DB et. al. (1967) The susceptibility to moniliasis in children with endocrine hypofunction.

[^]
30.

Saenger P et. al. (1982) Progressive adrenal failure in polyglandular autoimmune disease.

[^]
31.

None (1984) Primary hypoaldosteronism due to zona glomerulosa defect.

[^]
32.

Neufeld M et. al. (1980) Autoimmune polyglandular syndromes.

[^]
33.

Neufeld M et. al. (1981) Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes.

[^]
34.

None (1981) Genetic heterogeneity in autoimmune polyglandular failure.

[^]
35.

Aaltonen J et. al. (1994) An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.

[^]
36.

Björses P et. al. (1996) Genetic homogeneity of autoimmune polyglandular disease type I.

[^]
37.

Husebye ES et. al. (1997) Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I.

[^]
38.

Clemente MG et. al. (1997) Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1.

[^]
39.

Betterle C et. al. (1998) Clinical review 93: Autoimmune polyglandular syndrome type 1.

[^]
40.

Hedstrand H et. al. (2000) Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I.

[^]
41.

Ekwall O et. al. (2000) Pteridin-dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type I.

[^]
42.

Maghnie M et. al. (2000) Central diabetes insipidus in children and young adults.

[^]
43.

Gylling M et. al. (2000) ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

[^]
44.

Myhre AG et. al. (2001) Autoimmune polyendocrine syndrome type 1 (APS I) in Norway.

[^]
45.

ESSELBORN VM et. al. (1956) The syndrome of familial juvenile hypoadrenocorticism, hypoparathyroidism and superficial moniliasis.

[^]
46.

None (1962) The syndrome of keratoconjunctivitis, superficial moniliasis, idiopathic hypoparathyroidism and Addison's disease.

[^]
47.

HUNG W et. al. (1963) A POSSIBLE AUTOIMMUNE BASIS FOR ADDISON'S DISEASE IN THREE SIBLINGS, ONE WITH IDIOPATHIC HYPOPARATHYROIDISM, PERNICIOUS ANEMIA AND SUPERFICIAL MONILIASIS.

[^]
48.

BLIZZARD RM et. al. (1963) STUDIES OF THE ADRENAL ANTIGENS AND ANTIBODIES IN ADDISON'S DISEASE.

[^]
49.

None (1964) IDIOPATHIC HYPOPARATHYROIDISM, ADRENAL INSUFFICIENCY AND MONAILIASIS IN CHILDREN.

[^]
50.

KENNY FM et. al. (1964) HYPOPARATHYROIDISM, MONILIASIS, ADDISON'S AND HASHIMOTO'S DISEASES. HYPERCALCEMIA TREATED WITH INTRAVENOUSLY ADMINISTERED SODIUM SULFATE.

[^]
51.

Gylling M et. al. (2003) The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex.

[^]
52.

Söderbergh A et. al. (2004) Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.

[^]
53.

Falorni A et. al. (2004) Italian addison network study: update of diagnostic criteria for the etiological classification of primary adrenal insufficiency.

[^]
54.

Eisenbarth GS et. al. (2004) Autoimmune polyendocrine syndromes.

[^]
55.

Podkrajsek KT et. al. (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.

[^]
56.

Alimohammadi M et. al. (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.

[^]
57.

Puel A et. al. (2010) Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.

[^]
58.

Laakso SM et. al. (2011) IL-7 dysregulation and loss of CD8+ T cell homeostasis in the monogenic human disease autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

[^]
59.

Bourgault S et. al. (2015) Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.

[^]
Update: Sept. 26, 2018