Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autoimmun-polyendocrinopathie Syndrom 1

Das Autoimmun-polyendocrinopathie Syndrom 1 ist eine autosomal dominante oder rezessive Erkrankung, die durch Mutationen im AIRE-Gen hervorgerufen wird. Klinisch ist die Erkrankung durch eine Insuffizienz verschiedener endokriner Systeme gekennzeichnet für die sich pathogenetisch bedeutsame Autoantikörper nachweisen lassen.

Gliederung

Autoimmune Polyendokrinopathie
Autoimmun-polyendocrinopathie Syndrom 1
AIRE
Autoimmun-polyendocrinopathie Syndrom 2
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie

Referenzen:

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 polyendocrinopathy--candidosis--ectodermal 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.

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