Associated Papers
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Vemula M et al.
Journal of Human Immunity, 2025
Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.
Goldfarb Y et al.
The Journal of Experimental Medicine, 2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Constantine GM et al.
Immunological Reviews, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE et al.
Immunity, 2015
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