Condition: Polyglandular Type I Autoimmune Syndrome


rs1057517241 in AIRE gene and Polyglandular Type I Autoimmune Syndrome PMID 10677297 2000 Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.

PMID 9888391 1999 Mutation analyses of North American APS-1 patients.

PMID 27588307 2016 Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

PMID 12050215 2002 AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.

PMID 22024611 2012 Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.

PMID 9398840 1997 An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.

PMID 18708298 2008 Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I.

PMID 26084028 2015 Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

PMID 20407228 2010 We found that the R257X AIRE mutation is common in Russian APS-1 patients.

PMID 14974083 2004 APECED-causing mutations in AIRE reveal the functional domains of the protein.

PMID 9398839 1997 The Arg257stop (R257X) is the predominant mutation in Finnish APECED patients, accounting for 10/12 alleles studied.

PMID 20718774 2010 AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED.

PMID 11524731 2001 APECED mutations in the autoimmune regulator (AIRE) gene.

PMID 12173302 2002 Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.

PMID 15649886 2005 NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.

PMID 9398839 1997 Positional cloning of the APECED gene.

PMID 11275943 2001 Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

PMID 11524733 2001 Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.

PMID 27426947 2016 AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies.

PMID 12625412 2002 A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.

PMID 11836330 2002 Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

PMID 11274163 2001 Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.

PMID 15712268 2005 Two novel mutations of the AIRE protein affecting its homodimerization properties.

PMID 11600535 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.

PMID 16114041 2005 Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

PMID 18292755 2008 The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.

PMID 19446523 2009 Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.

PMID 9856486 1998 A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

PMID 19807739 2009 Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.

PMID 18616706 2009 Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.

PMID 16166780 2005 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation.

PMID 11600535 2001 The G228W closely cosegregated with hypothyroid autoimmune thyroiditis in our family, whereas a low penetrance of the full autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype was observed.

PMID 28567288 2017 GAD antibody-associated limbic encephalitis in a young woman with APECED.

PMID 19758376 2009 Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

PMID 16965330 2006 Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.

PMID 26141571 2015 Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.

PMID 18728167 2008 Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.

PMID 26915675 2016 Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

PMID 23133448 2012 Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.

PMID 18426830 2008 Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease.

PMID 24158785 2013 Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood.

PMID 27504588 2016 AIRE-mutations and autoimmune disease.

PMID 28446514 2017 Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.

PMID 22450362 2012 Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes.

PMID 20453472 2010 Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies.

PMID 26114819 2015 Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.

PMID 22162465 2012 Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction.

PMID 11524733 2001 From 54 analyzed APECED chromosomes, eight mutations were detected, four of which (T16M, W78R, IVS1_IVS4, 30-53dup23bp) are novel.

PMID 21508664 2012 Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.

PMID 21295522 2011 Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

PMID 1836330 1991 [Laparoscopic cholecystectomy--a patient-friendly operation].

PMID 20185822 2010 DAXX is a new AIRE-interacting protein.

PMID 22104652 2012 Three patients carried a homozygous W78R mutation on exon 2, typical of patients with APECED from Apulia; the fourth patient had a homozygous R203X mutation on exon 5, typical of APECED patients from Sicily.

PMID 27048654 2016 Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.

PMID 18682433 2008 Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.

PMID 17675238 2008 Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.

PMID 17289071 2007 Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

PMID 15811934 2005 Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal.

PMID 17118990 2007 Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.

PMID 9717837 1998 Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.

PMID 19265170 2009 Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.

PMID 9921903 1998 Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).

PMID 9837820 1998 A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.

PMID 17220063 2006 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

PMID 17189144 2006 Ocular complications of autoimmune polyendocrinopathy syndrome type 1.

PMID 28919897 2017 Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1.

PMID 21724609 2011 Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.