Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
41332640 (PubMed )
Supplement: media-2.xlsx › APS-1_patient_cohort
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Vemula M et al.
Journal of Human Immunity, 2025
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F et al.
The Journal of Experimental Medicine, 2025
39680367 (PubMed )
Supplement: jem_20241413_tables3.xlsx › Sheet1
The AIRE G228W mutation disturbs the interaction of AIRE with its partner molecule SIRT1.
Santos JC et al.
Frontiers in Immunology, 2022
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
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
Abbott JK et al.
Journal of Autoimmunity, 2018
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