Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autoimmune Polyendokrinopathie

Unter Autoimmunpolyendokrinopathie werden endokrinologische Erkrankungen zusammengefasst, die gleichzeitig mehrere Hormonsysteme betreffen können. Bei der Pathogenese spielen Autoimmunphänomene eine Rolle.

Gliederung

Erbliche endokrinologische Erkrankungen
Autoimmune Polyendokrinopathie
Autoimmun-polyendocrinopathie Syndrom 1
AIRE
Autoimmun-polyendocrinopathie Syndrom 2
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie
FOXP3
Erkrankungen der Nebenschilddrüse
Hereditärer Diabetes insipidus
Nierenerkrankungen mit endokrinologischer Manifestation
Phäochromozytom
Störungen der Regulation des Wachstums
Störungen des Schilddrüsenhormonsystems
Störungen des Steroidhormonsystems

Referenzen:

1.

Lyon MF et. al. (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

[^]
2.

Powell BR et. al. (1982) An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

[^]
3.

Clark LB et. al. (1999) Cellular and molecular characterization of the scurfy mouse mutant.

[^]
4.

Ferguson PJ et. al. (2000) Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

[^]
5.

Chatila TA et. al. (2000) JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.

[^]
6.

Wildin RS et. al. (2001) X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

[^]
7.

Bennett CL et. al. (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

[^]
8.

Brunkow ME et. al. (2001) Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.

[^]
9.

Levy-Lahad E et. al. (2001) Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

[^]
10.

Owen CJ et. al. (2003) Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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.

[^]
16.

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

[^]
17.

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.

[^]
18.

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

[^]
19.

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.

[^]
20.

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

[^]
21.

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.

[^]
22.

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

[^]
23.

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.

[^]
24.

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

[^]
25.

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.

[^]
26.

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

[^]
27.

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

[^]
28.

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

[^]
29.

Gambelunghe G et. al. (1999) Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease.

[^]
30.

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

[^]
31.

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

[^]
32.

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

[^]
33.

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.

[^]
34.

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

[^]
35.

None (1985) Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance.

[^]
36.

None (1966) Juvenile familial endocrinopathy.

[^]
37.

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

[^]
38.

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

[^]
39.

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

[^]
40.

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

[^]
41.

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

[^]
42.

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

[^]
43.

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

[^]
44.

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

[^]
45.

None (1981) Genetic heterogeneity in autoimmune polyglandular failure.

[^]
46.

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

[^]
47.

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

[^]
48.

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

[^]
49.

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

[^]
50.

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

[^]
51.

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

[^]
52.

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

[^]
53.

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

[^]
54.

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

[^]
55.

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

[^]
56.

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

[^]
57.

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

[^]
58.

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.

[^]
59.

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

[^]
60.

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

[^]
61.

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

[^]
62.

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

[^]
63.

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

[^]
64.

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

[^]
65.

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

[^]
66.

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.

[^]
67.

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

[^]
68.

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.

[^]
69.

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.

[^]
70.

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

[^]
71.

Eisenbarth GS et. al. (1979) The polyglandular failure syndrome: disease inheritance, HLA type, and immune function.

[^]
72.

Eisenbarth G et. al. (1978) HLA type and occurrence of disease in familial polyglandular failure.

[^]
73.

Bottazzo GF et. al. (1974) Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies.

[^]
74.

Butler MG et. al. (1984) Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome).

[^]
75.

Anderson PB et. al. (1980) Familial Schmidt's syndrome.

[^]
76.

Heuss D et. al. (1995) Myopathological findings in interstitial myositis in type II polyendocrine autoimmune syndrome (Schmidt's syndrome).

[^]
77.

Betterle C et. al. (2002) Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction.

[^]
78.

CARPENTER CC et. al. (1964) SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY). A REVIEW OF THE LITERATURE AND A REPORT OF FIFTEEN NEW CASES INCLUDING TEN INSTANCES OF COEXISTENT DIABETES MELLITUS.

[^]
79.

PHAIR JP et. al. (1965) DIABETES MELLITUS, ADDISON'S DISEASE AND MYXEDEMA--REPORT OF TWO CASES.

[^]
80.

SOLOMAN N et. al. (1965) SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY) AND COEXISTENT DIABETES MELLITUS.

[^]
81.

Betterle C et. al. (2004) Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?

[^]
82.

Dodge JA et. al. (1977) Congenital absence of islets of Langerhans.

[^]
83.

Jonas MM et. al. (1991) Congenital diabetes mellitus and fatal secretory diarrhea in two infants.

[^]
84.

Seidman EG et. al. (1990) Successful treatment of autoimmune enteropathy with cyclosporine.

[^]
85.

Meyer B et. al. () [2 cases of neonatal diabetes].

[^]
86.

Satake N et. al. (1993) A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy.

[^]
87.

Roberts J et. al. () Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans.

[^]
88.

Goulet OJ et. al. (1998) Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.

[^]
89.

Bennett CL et. al. (2000) X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

[^]
90.

None (2001) Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse.

[^]
91.

Baud O et. al. (2001) Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation.

[^]
92.

Gambineri E et. al. (2008) Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

[^]
93.

d'Hennezel E et. al. (2012) The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

[^]