Autoimmune polyendocrinopathy syndrome 1

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

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

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

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

None (1981) Genetic heterogeneity in autoimmune polyglandular failure.

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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.

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

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.

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.

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

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

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

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

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

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.

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

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.

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

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.

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

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.

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

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.

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

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.

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

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

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.

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

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

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