AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Candidiasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 GeneticVariation disease BEFREE We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy. 21295522 2011
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 GeneticVariation disease BEFREE These observations suggest that iNKT cell deficiency is part of the CMC disease phenotype irrespective of the presence of AIRE gene mutations but does not appear to confer susceptibility to chronic Candida infections. 20923687 2011
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 GeneticVariation disease BEFREE Three patients (12·5%) had homozygous AIRE mutations characteristic of Autoimmune-Poly-Endocrinopathy-Candidiasis-Ectodermal-Dystrophy and all three were also positive for IFNω-autoantibodies. 20718774 2010
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 Biomarker disease BEFREE Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I) suffer from chronic candidosis caused mainly by Candida albicans, and repeated courses of azole antifungals have led to the development of resistance in the APECED patient population in Finland. 20876623 2010
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 GeneticVariation disease BEFREE Homozygous loss-of-function mutations in AIRE cause autoimmune polyglandular syndrome type 1 (APS 1), which manifests in a classic triad of hypoparathyroidism, adrenal insufficiency, and candidiasis. 18414681 2008
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 Biomarker disease BEFREE The three main components of APECED are chronic mucocuteaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency. 16820279 2006
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 GeneticVariation disease BEFREE Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. 16965330 2006
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 AlteredExpression disease BEFREE The disturbance of AIRE expression may also be responsible for autoimmune manifestations in disorders with disrupted thymic structure other than autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy alone. 15640689 2004
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 Biomarker disease BEFREE A defective form of the AIRE protein causes autoimmune destruction of target organs by disturbing the immunological tolerance of patients with a rare monogenic disease, autoimmune polyendocrinopathy (APE)-candidiasis (C)-ectodermal dystrophy (ED), APECED. 14974083 2004
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 GeneticVariation disease BEFREE A novel AIRE mutation in an APECED patient with candidiasis, adrenal failure, hepatitis, diabetes mellitus and osteosclerosis. 12784192 2003
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 GeneticVariation disease BEFREE The only association between the phenotype and the AIRE genotype was the higher prevalence of candidiasis in the patients with the most common mutation, R257X, than in those with other mutations. 12050215 2002
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 Biomarker disease CTD_human The only association between the phenotype and the AIRE genotype was the higher prevalence of candidiasis in the patients with the most common mutation, R257X, than in those with other mutations. 12050215 2002
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.400 Biomarker disease LHGDN 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. 12625412 2002