Autoimmune Polyendokrinopathie

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

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

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

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.

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.

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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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

Falorni A et al. (2016) From Genetic Predisposition to Molecular Mechanisms of Autoimmune Primary Adrenal Insufficiency.

Zirilli G et al. (2017) Peculiarities of autoimmune polyglandular syndromes in children and adolescents.

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

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

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

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

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

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

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

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

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

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

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.

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

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.

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

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.

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

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.

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

None (1981) Genetic heterogeneity in autoimmune polyglandular failure.

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

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

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

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

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

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

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

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

None (1966) Juvenile familial endocrinopathy.

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

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

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.

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

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

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

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.

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

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

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.

OMIM.ORG article