An uncommon presentation of autoimmune polyglandular syndrome type 1 (APS‐1)—A case report

Authors: Ali M. Alrufaidi, Mohammed Mosa Alnashery, Ageel Ahmad Alghanimi, Rash Elamin Ahmed Elmansor, Ramy Mohamed Ghazy

Source: Clinical Case Reports, Vol 12, Iss 6, Pp n/a-n/a (2024)

Subject Terms: AIRE gene mutation, autoimmune diseases, endocrine disorders, hormonal replacement therapy, polyglandular autoimmune syndrome type 1, primary ovarian insufficiency, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/899379c1c80041398c39e9de7546302f

Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis

Authors: Wu, Huiping ^{a, 1}, Mo, Yiqi ^{a, 1}, Yu, Shiwen ^a, Ye, Xiaojun ^a, Lu, Yili ^a, Wang, Chaoban ^{b, ⁎}, Shan, Xiaoou ^{a, ⁎⁎}

Source: In Heliyon 30 March 2024 10(6)

The absence of the autoimmune regulator gene (AIRE) impairs the three-dimensional structure of medullary thymic epithelial cell spheroids

Authors: Ana Carolina Monteleone-Cassiano, Janaina A. Dernowsek, Romario S. Mascarenhas, Amanda Freire Assis, Dimitrius Pitol, Natalia Chermont Santos Moreira, Elza Tiemi Sakamoto-Hojo, João Paulo Mardegan Issa, Eduardo A. Donadi, Geraldo Aleixo Passos

Source: BMC Molecular and Cell Biology, Vol 23, Iss 1, Pp 1-17 (2022)

Subject Terms: AIRE gene, Medullary thymic epithelial cells, mTECs, Cell adhesion, Spheroid, 3D cell culture, Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/2661-8850

Access URL: https://doaj.org/article/21f76be474554b46a02bf58f15e78132

Autoimmune polyglandular syndrome type 1 and eye damage

Authors: L. Yu. Khamnueva, T. N. Iureva, L. S. Andreeva, E. V. Chugunova

Source: Acta Biomedica Scientifica, Vol 6, Iss 6-1, Pp 19-30 (2021)

Subject Terms: autoimmune polyendocrine syndrome type 1, adrenal insufficiency, hypoparathyroidism, keratoconjunctivitis, blepharitis, limbal stem cells, cataracts, mutations, aire gene mutations, Science

File Description: electronic resource

Relation: https://www.actabiomedica.ru/jour/article/view/3107; https://doaj.org/toc/2541-9420; https://doaj.org/toc/2587-9596

Access URL: https://doaj.org/article/3626d8cc5d2e41e091e4d5c4c97cf5e0

Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series

Authors: Ya-Bing Wang, Ou Wang, Min Nie, Yan Jiang, Mei Li, Wei-Bo Xia, Xiao-Ping Xing

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

Subject Terms: Autoimmune polyendocrine syndrome type 1, Hypoparathyroidism, AIRE gene, Chinese, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/8e2843f7f5044490be3151e623109a10

The Association between Autoimmune Regulator (AIRE)-2075876 G/A Single Nucleotide Polymorphism in Rheumatoid Disease

Authors: Khadiga Mohammed abo gabal, Shaimaa abd Elmonaam, Maysoon Ahmed, shaimaa Ali

Source: Egyptian Journal of Medical Research, Vol 2, Iss 2, Pp 88-103 (2021)

Subject Terms: rheumatoid arthritis, aire gene, snp rs2075876 polymorphism, polymerase chain reaction, Medicine

File Description: electronic resource

Relation: https://ejmr.journals.ekb.eg/article_174672_781a0fb4d4c2eb8c98ab9c08fcc1a4a5.pdf; https://doaj.org/toc/2682-4396; https://doaj.org/toc/2682-440X

Access URL: https://doaj.org/article/4cc1bee7e24d48369eb9f4a29008c89a

Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1

Authors: Jing Ruan, Xuan Wang, Xianyong Jiang, Miao Chen

Source: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)

Subject Terms: Pure red cell aplasia, Large granular lymphocytic leukaemia, Autoimmune polyendocrine syndrome type 1, AIRE gene mutation, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/815b9f4610094afe856b7899401de23e

Autoimmune Polyglandular Syndrome Type 1: a case report

Authors: Sayed Mahmoud Sajjadi-Jazi, Akbar Soltani, Samaneh Enayati, Armita Kakavand Hamidi, Mahsa M. Amoli

Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

Subject Terms: Single nucleotide variation, APS-1, AIRE gene, Mutation, APECED, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0870-3; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/fcb8cff1f8f644548eeb72a3ee31d7e6

A case of late manifestation of primary adrenal insufficiency in the autoimmune polyglandular syndrome type 1

Authors: V. V. Troshina, T. A. Grebennikova, Zh. E. Belaya

Source: Alʹmanah Kliničeskoj Mediciny, Vol 47, Iss 2, Pp 175-179 (2019)

Subject Terms: аutoimmune polyglandular syndrome type 1, primary adrenal insufficiency, aire gene, candidiasis, hypoparathyroidism, Medicine

File Description: electronic resource

Relation: https://www.almclinmed.ru/jour/article/view/1006; https://doaj.org/toc/2072-0505; https://doaj.org/toc/2587-9294

Access URL: https://doaj.org/article/feb76e4bc4db430cb25d9e7b1c85a3af

Single nucleotide polymorphism rs2075876 in AIRE gene is a strong rheumatoid arthritis determinant

Authors: rasoul salehi, Mansour Salesi, Elham Noormohamadi, Bahram Pakzad, Farzaneh Yousefisadr

Source: Acta Medica Iranica, Vol 59, Iss 5 (2021)

Subject Terms: Rheumatoid arthritis, AIRE gene, Single-nucleotide polymorphism, Autoimmune disorder, Medicine (General), R5-920

File Description: electronic resource

Relation: https://acta.tums.ac.ir/index.php/acta/article/view/8421; https://doaj.org/toc/0044-6025; https://doaj.org/toc/1735-9694

Access URL: https://doaj.org/article/571a7d50e2284e349f1f4c1bac12ce84

The Role of Aire, microRNAs and Cell-Cell Interactions on Thymic Architecture and Induction of Tolerance

Authors: Geraldo Aleixo Passos, Ernna Herida Oliveira, Daniella Areas Mendes-da-Cruz

Subject Terms: R5-920, RC581-607, thymic crosstalk, Central Tolerance, promiscuous gene expression, Aire gene, cell-cell interaction, thymocyte, microRNA, Thymic B cell, Chemokines, Thymus, Medicine and Nursing

File Description: image/jpeg

Relation: Frontiers Research Topics

Access URL: https://directory.doabooks.org/handle/20.500.12854/58575
http://www.frontiersin.org/books/The_Role_of_Aire_microRNAs_and_Cell-Cell_Interactions_on_Thymic_Architecture_and_Induction_of_Toler/795#nogo
http://journal.frontiersin.org/researchtopic/3221/the-role-of-aire-micrornas-and-cell-cell-interactions-on-thymic-architecture-and-induction-of-tolera

Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1

Authors: Linda Humbert, Marjorie Cornu, Emmanuelle Proust-Lemoine, Jagadeesh Bayry, Jean-Louis Wemeau, Marie-Christine Vantyghem, Boualem Sendid

Source: Frontiers in Immunology, Vol 9 (2018)

Subject Terms: autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), chronic mucocutaneous candidiasis (CMC), autoimmune regulator (AIRE) gene, IL-17, IL-22, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.02570/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/b3d93370f54d457f96eda73cadd5c45d

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

Authors: Marsha Pellegrino, Emanuele Bellacchio, Rudina Dhamo, Federica Frasca, Corrado Betterle, Alessandra Fierabracci

Source: Frontiers in Immunology, Vol 9 (2018)

Subject Terms: APECED, AIRE gene, genotype/phenotype correlation, mutation functional analysis, epidemiology, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.01835/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/d687d69d7a854ec1bcd751a4cad71a2f

Meta-Analysis of Autoimmune Regulator-Regulated Genes in Human and Murine Models: A Novel Human Model Provides Insights on the Role of Autoimmune Regulator in Regulating STAT1 and STAT1-Regulated Genes

Authors: Thomas R. J. Lovewell, Andrew J. G. McDonagh, Andrew G. Messenger, Mimoun Azzouz, Rachid Tazi-Ahnini

Source: Frontiers in Immunology, Vol 9 (2018)

Subject Terms: Aire gene, STAT1, auitoimmune polyglandular syndrome 1, tissue-restricted antigens, TEC1 A3 cells, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.01380/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/730d39e4ab574eab90e1bff5799c2691

Aire Disruption Influences the Medullary Thymic Epithelial Cell Transcriptome and Interaction With Thymocytes

Authors: Cesar A. Speck-Hernandez, Amanda F. Assis, Rafaela F. Felicio, Larissa Cotrim-Sousa, Nicole Pezzi, Gabriel S. Lopes, Karina F. Bombonato-Prado, Silvana Giuliatti, Geraldo A. Passos

Source: Frontiers in Immunology, Vol 9 (2018)

Subject Terms: Aire gene, cell adhesion, transcriptome, medullary thymic epithelial cells, immune tolerance, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fimmu.2018.00964/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/d5cb0ba6807e44f484274ef8b95dfd12

A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect

Authors: Handan Akil, Ayse Derya Bulus, Nesibe Andiran, Pascale Saugier Veber, Soner Keskin

Source: Journal of Clinical Ophthalmology and Research, Vol 4, Iss 1, Pp 37-39 (2016)

Subject Terms: AIRE gene mutation, autoimmune polyendocrine syndrome, cataract, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.jcor.in/article.asp?issn=2320-3897;year=2016;volume=4;issue=1;spage=37;epage=39;aulast=Akil; https://doaj.org/toc/2320-3897

Access URL: https://doaj.org/article/094486f39f3a43e78a4cf8430be5d686

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The Role of Aire, microRNAs and Cell-Cell Interactions on Thymic Architecture and Induction of Tolerance

Authors: Ernna Herida Oliveira, Daniella Areas Mendes-da-Cruz, Geraldo Aleixo Passos

Availability: http://data.europeana.eu/aggregation/europeana/9200235/researchtopic_3221_the_role_of_aire_micrornas_and_cell_cell_interactions_on_thymic_architecture_and_induction_of_tolera

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