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Article

AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.

Clinical immunology (Orlando, Fla.) - 1 Jan 2007

Ferrera F, Rizzi M, Sprecacenere B, Balestra P, Sessarego M, Di Carlo A, Filaci G, Gabrielli A, Ravazzolo R, Indiveri F

Abstract excerpt

Mutations in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Systemic sclerosis (SSc) is a non-organ-specific autoimmune disease mainly characterized by cutaneous involvement, that is frequently associated with other autoimmune manifestations common to APECED. Nineteen SSc patients, 22 patients affected by SSc associated with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17101293
DOI: 10.1016/j.clim.2006.09.013

Genes

AIRE

Variants

Provenance

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AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.PMID 17101293Read ↗

Autoimmune Regulator-1 Messenger Ribonucleic Acid Analysis in a Novel Intronic Mutation and Two Additional Novel<i>AIRE</i>Gene Mutations in a Cohort of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy PatientsSemantic proximity Read ↗

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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.Semantic proximity Read ↗

Association between AIRE gene polymorphism and rheumatoid arthritis: a systematic review and meta-analysis of case-control studies.Semantic proximity Read ↗

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.Semantic proximity Read ↗

Characterization of Regulatory Elements and Methylation Pattern of the Autoimmune Regulator (AIRE) PromoterSemantic proximity Read ↗

Disruption of immunological tolerance: role of AIRE gene in autoimmunity.Semantic proximity Read ↗

Population genetics and functions of the autoimmune regulator (AIRE).Semantic proximity Read ↗

A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

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