Associated Papers
Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.
Wu H et al.
Heliyon, 2024
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1.
Ruan J et al.
Bmc Medical Genomics, 2021
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
Cinque L et al.
Biomedicines, 2020
A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Zheng WB et al.
Molecular Medicine Reports, 2020
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