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Aire Mutations and Autoimmune Diseases.
Wolff ASB, Oftedal BE. Wolff ASB, et al. Adv Exp Med Biol. 2025;1471:223-246. doi: 10.1007/978-3-031-77921-3_8. Adv Exp Med Biol. 2025. PMID: 40067589 Review.
However, there are a few exemptions, like the autoimmune polyendocrine syndrome type 1 (APS-1) caused by mutations in the Autoimmune Regulator (AIRE) gene....
However, there are a few exemptions, like the autoimmune polyendocrine syndrome type 1 (APS-1) caused by mutations in the Autoimmune …
Where AIRE we now? Where AIRE we going?
Bez P, Ceraudo M, Vianello F, Rattazzi M, Scarpa R. Bez P, et al. Curr Opin Allergy Clin Immunol. 2024 Dec 1;24(6):448-456. doi: 10.1097/ACI.0000000000001041. Epub 2024 Oct 23. Curr Opin Allergy Clin Immunol. 2024. PMID: 39440452 Free PMC article. Review.
PURPOSE OF REVIEW: The purpose of the review is to describe the most recent advancement in understanding of the pivotal role of autoimmune regulator ( AIRE ) gene expression in central and peripheral tolerance, and the implications of its impairment in the ge …
PURPOSE OF REVIEW: The purpose of the review is to describe the most recent advancement in understanding of the pivotal role of autoimmun …
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, Lionakis MS. Ochoa S, et al. Sci Transl Med. 2024 Sep 18;16(765):eadk0845. doi: 10.1126/scitranslmed.adk0845. Epub 2024 Sep 18. Sci Transl Med. 2024. PMID: 39292801 Free PMC article.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-threatening monogenic autoimmune disorder primarily caused by biallelic deleterious variants in the autoimmune regulator (AIRE) gene. We prospectively evaluated 104 patients wit …
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-threatening monogenic autoimmune disorder primarily caused …
Multifunctional acyltransferase HBO1: a key regulatory factor for cellular functions.
Su Z, Zhang Y, Tang J, Zhou Y, Long C. Su Z, et al. Cell Mol Biol Lett. 2024 Nov 14;29(1):141. doi: 10.1186/s11658-024-00661-y. Cell Mol Biol Lett. 2024. PMID: 39543485 Free PMC article. Review.
Moreover, HBO1 participates in the expansion of medullary thymic epithelial cells (mTECs) and regulates the expression of peripheral tissue genes (PTGs) mediated by autoimmune regulator (AIRE), thus inducing immune tolerance. Furthermore, HBO1 influences the …
Moreover, HBO1 participates in the expansion of medullary thymic epithelial cells (mTECs) and regulates the expression of peripheral tissue …
Mechanism for controlled assembly of transcriptional condensates by Aire.
Huoh YS, Zhang Q, Törner R, Baca SC, Arthanari H, Hur S. Huoh YS, et al. Nat Immunol. 2024 Sep;25(9):1580-1592. doi: 10.1038/s41590-024-01922-w. Epub 2024 Aug 21. Nat Immunol. 2024. PMID: 39169234 Free PMC article.
Here, we report a multi-layered mechanism for condensate assembly by autoimmune regulator (Aire), an essential transcriptional regulator that orchestrates gene expression reprogramming for central T cell tolerance. ...Specifically, CTT binds coactivators CBP/ …
Here, we report a multi-layered mechanism for condensate assembly by autoimmune regulator (Aire), an essential transcri …
Autoimmune hepatitis and immune dysregulation: A case series.
Jannone G, Triaille C, Touzot F, Alvarez F. Jannone G, et al. Dig Liver Dis. 2025 Nov;57(11):2152-2158. doi: 10.1016/j.dld.2025.07.045. Epub 2025 Aug 16. Dig Liver Dis. 2025. PMID: 40819988 Free article.
Two of those patients had a genetic confirmation of IEI (SP110 and AIRE homozygous mutations). IEI-related signs were recurrent infections (n=3), immune-mediated cytopenia (n=4) or skin disease (n=2) and autoimmune polyendocrinopathy (n=1). ...
Two of those patients had a genetic confirmation of IEI (SP110 and AIRE homozygous mutations). IEI-related signs were recurrent infec …
Autoimmune regulator deficiency causes sterile epididymitis and impacts male fertility through disruption of inorganic physiology.
Ahn SH, Halgren K, Grzesiak G, MacRenaris KW, Sue A, Xie H, Demireva E, O'Halloran TV, Petroff MG. Ahn SH, et al. J Immunol. 2025 Jul 1;214(7):1504-1516. doi: 10.1093/jimmun/vkaf054. J Immunol. 2025. PMID: 40267393 Free PMC article.
Autoimmune regulator (AIRE), a transcriptional regulator expressed by medullary thymic epithelial cells, is required for shaping the self-antigen tolerant T cell receptor repertoire. ...We also show an increase in DNA damage of epididymal sperm of Aire …
Autoimmune regulator (AIRE), a transcriptional regulator expressed by medullary thymic epithelial cells, is required fo …
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A, Durmaz A, Karaca N, Gulez N, Genel F, Celmeli F, Cogurlu MT, Akcan M, Cicek D, Cipe FE, Kiykim A, Yıldıran A, Unluhizarci K, Kilic SS, Aksu G, Ardeniz O, Kutukculer N. Aykut A, et al. Immunol Res. 2024 Aug;72(4):714-726. doi: 10.1007/s12026-024-09477-6. Epub 2024 Apr 22. Immunol Res. 2024. PMID: 38644452 Free PMC article.
According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, S …
According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes i …
The Thymus as a Mirror of the Body's Gene Expression.
Passos GA, Genari AB, Assis AF, Monteleone-Cassiano AC, Donadi EA, Oliveira EH, Duarte MJ, Machado MV, Tanaka PP, Mascarenhas R. Passos GA, et al. Adv Exp Med Biol. 2025;1471:247-268. doi: 10.1007/978-3-031-77921-3_9. Adv Exp Med Biol. 2025. PMID: 40067590 Review.
Due to the wide variety of PTAs, this process was termed promiscuous gene expression (PGE), whose control is shared between autoimmune regulator (human AIRE/murine Aire), a transcriptional modulator, and forebrain-expressed zinc finger 2 (FEZF2/Fezf2), …
Due to the wide variety of PTAs, this process was termed promiscuous gene expression (PGE), whose control is shared between autoimmune …
The Autoimmune Regulator (AIRE) Gene, The Master Activator of Self-Antigen Expression in the Thymus.
Giraud M, Peterson P. Giraud M, et al. Adv Exp Med Biol. 2025;1471:199-221. doi: 10.1007/978-3-031-77921-3_7. Adv Exp Med Biol. 2025. PMID: 40067588 Review.
It has been more than 20 years since the AIRE gene was discovered. The mutations in the AIRE gene cause a rare and life-threatening autoimmune disease with severe manifestations against a variety of organs. Since the identification of the AIRE gene in 1997, m …
It has been more than 20 years since the AIRE gene was discovered. The mutations in the AIRE gene cause a rare and life-threat …
40 results