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autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy

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https://www.readbyqxmd.com/read/29666621/the-role-of-aire-in-the-immunity-against-candida-albicans-in-a-model-of-human-macrophages
#1
Jose Antonio Tavares de Albuquerque, Pinaki Prosad Banerjee, Angela Castoldi, Royce Ma, Nuria Bengala Zurro, Leandro Hideki Ynoue, Christina Arslanian, Marina Uchoa Wall Barbosa-Carvalho, Joya Emilie de Menezes Correia-Deur, Fernanda Guimarães Weiler, Magnus Regios Dias-da-Silva, Marise Lazaretti-Castro, Luis Alberto Pedroza, Niels Olsen Saraiva Câmara, Emily Mace, Jordan Scott Orange, Antonio Condino-Neto
Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a primary immunodeficiency caused by mutations in the autoimmune regulator gene ( AIRE ). Patients with AIRE mutations are susceptible to Candida albicans infection and present with autoimmune disorders. We previously demonstrated that cytoplasmic AIRE regulates the Syk-dependent Dectin-1 pathway. In this study, we further evaluated direct contact with fungal elements, synapse formation, and the response of macrophage-like THP-1 cells to C...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29522649/integrity-of-ikk-nf-%C3%AE%C2%BAb-shields-thymic-stroma-that-suppresses-susceptibility-to-autoimmunity-fungal-infection-and-carcinogenesis
#2
Feng Zhu, Yinling Hu
A pathogenic connection between autoreactive T cells, fungal infection, and carcinogenesis has been demonstrated in studies of human autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) as well as in a mouse model in which kinase-dead Ikkα knock-in mice develop impaired central tolerance, autoreactive T cell-mediated autoimmunity, chronic fungal infection, and esophageal squamous cell carcinoma, which recapitulates APECED. IκB kinase α (IKKα) is one subunit of the IKK complex required for NF-κB activation...
April 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29437776/rapid-whole-genome-sequencing-identifies-a-novel-aire-variant-associated-with-autoimmune-polyendocrine-syndrome-type-1
#3
Erica Sanford, Kelly Watkins, Shareef Nahas, Michael Gottschalk, Nicole Coufal, Lauge Farnaes, David Dimmock, Stephen Kingsmore, Rcigm Investigators
Autoimmune polyendocrine syndrome type 1 (APS1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a five-year-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism...
February 1, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29427825/beyond-apeced-an-update-on-the-role-of-the-autoimmune-regulator-gene-aire-in-physiology-and-disease
#4
REVIEW
Giuseppina Conteduca, Francesco Indiveri, Gilberto Filaci, Simone Negrini
The autoimmune regulator gene (AIRE) is a transcription factor expressed both in the thymus, by medullary thymic epithelial cells, and in secondary lymphoid organs. AIRE controls the local transcription of organ- specific proteins typically expressed in peripheral tissues, thus allowing the negative selection of self- reactive T cells. The crucial role played by AIRE in central immune tolerance emerged in the studies on the pathogenesis of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, a rare inherited polyendocrine/autoimmune disease...
April 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28871661/update-on-aire-and-thymic-negative-selection
#5
REVIEW
Geraldo A Passos, Cesar A Speck-Hernandez, Amanda F Assis, Daniella A Mendes-da-Cruz
Twenty years ago, the autoimmune regulator (Aire) gene was associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, and was cloned and sequenced. Its importance goes beyond its abstract link with human autoimmune disease. Aire identification opened new perspectives to better understand the molecular basis of central tolerance and self-non-self distinction, the main properties of the immune system. Since 1997, a growing number of immunologists and molecular geneticists have made important discoveries about the function of Aire, which is essentially a pleiotropic gene...
January 2018: Immunology
https://www.readbyqxmd.com/read/28769929/autoimmune-regulator-deficiency-results-in-a-decrease-in-stat1-levels-in-human-monocytes
#6
Ofer Zimmerman, Lindsey B Rosen, Muthulekha Swamydas, Elise M N Ferre, Mukil Natarajan, Frank van de Veerdonk, Steven M Holland, Michail S Lionakis
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by biallelic autoimmune regulator (AIRE) mutations that manifests with chronic mucocutaneous candidiasis (CMC) and autoimmunity. Patients with STAT1 gain-of-function (GOF) mutations also develop CMC and autoimmunity; they exhibit increased STAT1 protein levels at baseline and STAT1 phosphorylation (pSTAT1) upon interferon (IFN)-γ stimulation relative to healthy controls. AIRE interacts functionally with a protein that directly regulates STAT1, namely protein inhibitor of activated STAT1, which inhibits STAT1 activation...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28683959/-oral-diseases-in-auto-immune-polyendocrine-syndrome-type-1
#7
Emmanuelle Proust-Lemoine, Sylvie Guyot
Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis...
September 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28567288/gad-antibody-associated-limbic-encephalitis-in-a-young-woman-with-apeced
#8
Anna Kopczak, Adrian-Minh Schumacher, Sandra Nischwitz, Tania Kümpfel, Günter K Stalla, Matthias K Auer
The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison's disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458664/childhood-polyarthritis-as-early-manifestation-of-autoimmune-polyendocrinopathy-with-candidiasis-and-ectodermal-dystrophy-syndrome
#9
Maria J Gutierrez, Julieta Gilson, Jamie Zacharias, Faoud Ishmael, C April Bingham
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator ( AIRE ) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not described as a part of the syndrome, and only sporadic cases are reported. We describe the case of a preschool-age girl who presented with hypoparathyroidism, hepatitis, interstitial pneumonitis, and chronic polyarthritis at 4 years of age and was found to have two compound heterozygous disease-associated mutations in the AIRE gene...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28407484/autoreactive-t-cells-and-chronic-fungal-infection-drive-esophageal-carcinogenesis
#10
Feng Zhu, Jami Willette-Brown, Na-Young Song, Dakshayani Lomada, Yongmei Song, Liyan Xue, Zane Gray, Zitong Zhao, Sean R Davis, Zhonghe Sun, Peilin Zhang, Xiaolin Wu, Qimin Zhan, Ellen R Richie, Yinling Hu
Humans with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a T cell-driven autoimmune disease caused by impaired central tolerance, are susceptible to chronic fungal infection and esophageal squamous cell carcinoma (ESCC). However, the relationship between autoreactive T cells and chronic fungal infection in ESCC development remains unclear. We find that kinase-dead Ikkα knockin mice develop APECED-like phenotypes, including impaired central tolerance, autoreactive T cells, chronic fungal infection, and ESCCs expressing specific human ESCC markers...
April 12, 2017: Cell Host & Microbe
https://www.readbyqxmd.com/read/28256018/oral-lichen-planus-in-childhood-a-case-series
#11
Marco Cascone, Antonio Celentano, Daniela Adamo, Stefania Leuci, Elvira Ruoppo, Michele D Mignogna
BACKGROUND: Although the exact incidence of pediatric oral lichen planus (OLP) is unknown, the oral mucosa seems to be less commonly involved, and the clinical presentation is often atypical. The aim of the study is to present a case series of OLP in childhood. METHODS: From our database, we retrospectively selected and analyzed the clinical data of OLP patients under the age of 18 where the diagnosis had been confirmed by histopathological analysis. RESULTS: The case series from our database shows eight patients, four males and four females...
June 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28242760/dna-breaks-and-chromatin-structural-changes-enhance-the-transcription-of-autoimmune-regulator-target-genes
#12
Mithu Guha, Mario Saare, Julia Maslovskaja, Kai Kisand, Ingrid Liiv, Uku Haljasorg, Tõnis Tasa, Andres Metspalu, Lili Milani, Pärt Peterson
The autoimmune regulator (AIRE) protein is the key factor in thymic negative selection of autoreactive T cells by promoting the ectopic expression of tissue-specific genes in the thymic medullary epithelium. Mutations in AIRE cause a monogenic autoimmune disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. AIRE has been shown to promote DNA breaks via its interaction with topoisomerase 2 (TOP2). In this study, we investigated topoisomerase-induced DNA breaks and chromatin structural alterations in conjunction with AIRE-dependent gene expression...
April 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28222032/unexplained-cyanosis-caused-by-hepatopulmonary-syndrome-in-a-girl-with-apeced-syndrome
#13
Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28188605/-cancer-and-mycoses-and-literature-review
#14
REVIEW
M Develoux
Various infectious agents are classical risk factors for cancer including bacteria, viruses and parasites. There is less evidence concerning the implication of fungal infection in carcinogenesis. The role of chronic Candida infection in the development of squamous cell carcinoma has been suspected for years. Candida sp are more prevalent in potentially malignant disorder and cancer of the oral mucosa. Other epidemiological evidence of a link between Candida infection and cancer is what is observed in patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)...
February 2017: Bulletin de la Société de Pathologie Exotique
https://www.readbyqxmd.com/read/28090315/chronic-mucocutaneous-candidiasis-disease-associated-with-inborn-errors-of-il-17-immunity
#15
REVIEW
Satoshi Okada, Anne Puel, Jean-Laurent Casanova, Masao Kobayashi
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections affecting the nails, skin and oral and genital mucosae caused by Candida spp., mainly Candida albicans . CMC is an infectious phenotype in patients with inherited or acquired T-cell deficiency. Patients with autosomal-dominant (AD) hyper IgE syndrome (HIES), AD signal transducer and activator of transcription 1 (STAT1) gain-of-function, autosomal-recessive (AR) deficiencies in interleukin (IL)-12 receptor β1 (IL-12Rβ1), IL-12p40, caspase recruitment domain-containing protein 9 (CARD9) or retinoic acid-related orphan receptor γT (RORγT) or AR autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) develop CMC as a major infectious phenotype that is categorized as Syndromic CMC...
December 2016: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/27957331/il-6-specific-autoantibodies-among-apeced-and-thymoma-patients
#16
Jaanika Kärner, Maire Pihlap, Annamari Ranki, Kai Krohn, Katarina Trebusak Podkrajsek, Nina Bratanic, Tadej Battelino, Nick Willcox, Pärt Peterson, Kai Kisand
INTRODUCTION: Both autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and the rare thymoma patients with chronic mucocutaneous candidiasis (CMC) have neutralizing autoantibodies to Th17 cytokines and significant defects in production of IL-22 and IL-17F by their T cells. The cause of these defects is unknown. We hypothesized that they might result from autoimmunity against upstream cytokines normally responsible for generating and maintaining Th17 cells. METHODS: Luciferase immunoprecipitation (LIPS) was used to screen for autoantibodies to IL-6, IL-1β, TGF-β3, IL-21, and IL-23 in patients with APECED or thymoma...
June 2016: Immunity, Inflammation and Disease
https://www.readbyqxmd.com/read/27916941/autoimmune-regulator-expression-in-dc2-4-cells-regulates-the-nf-%C3%AE%C2%BAb-signaling-and-cytokine-expression-of-the-toll-like-receptor-3-pathway
#17
Jitong Sun, Kunwei Niu, Haiying Fu, Haijun Li, Yi Li, Wei Yang
Autoimmune regulator (Aire) mutations result in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), which manifests as multi-organ autoimmunity and chronic mucocutaneous candidiasis (CMC). Indendritic cells (DCs), pattern recognition receptors (PRR), such as Toll-like receptors (TLRs), are closely involved in the recognition of various pathogens, activating the intercellular signaling pathway, followed by the activation of transcription factors and the expression of downstream genes, which take part in mediating the immune response and maintaining immune tolerance...
December 1, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27597936/novel-findings-into-aire-genetics-and-functioning-clinical-implications
#18
REVIEW
Lucia De Martino, Donatella Capalbo, Nicola Improda, Paola Lorello, Carla Ungaro, Raffaella Di Mase, Emilia Cirillo, Claudio Pignata, Mariacarolina Salerno
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27588307/redefined-clinical-features-and-diagnostic-criteria-in-autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy
#19
Elise M N Ferre, Stacey R Rose, Sergio D Rosenzweig, Peter D Burbelo, Kimberly R Romito, Julie E Niemela, Lindsey B Rosen, Timothy J Break, Wenjuan Gu, Sally Hunsberger, Sarah K Browne, Amy P Hsu, Shakuntala Rampertaap, Muthulekha Swamydas, Amanda L Collar, Heidi H Kong, Chyi-Chia Richard Lee, David Chascsa, Thomas Simcox, Angela Pham, Anamaria Bondici, Mukil Natarajan, Joseph Monsale, David E Kleiner, Martha Quezado, Ilias Alevizos, Niki M Moutsopoulos, Lynne Yockey, Cathleen Frein, Ariane Soldatos, Katherine R Calvo, Jennifer Adjemian, Morgan N Similuk, David M Lang, Kelly D Stone, Gulbu Uzel, Jeffrey B Kopp, Rachel J Bishop, Steven M Holland, Kenneth N Olivier, Thomas A Fleisher, Theo Heller, Karen K Winer, Michail S Lionakis
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE mutations. It classically presents with chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues; hypoparathyroidism and adrenal insufficiency are most common. Developing any two of these classic triad manifestations establishes the diagnosis. Although widely recognized in Europe, where nonendocrine autoimmune manifestations are uncommon, APECED is less defined in patients from the Western Hemisphere...
August 18, 2016: JCI Insight
https://www.readbyqxmd.com/read/27432359/murine-uterine-decidualization-is-a-novel-function-of-autoimmune-regulator-beyond-immune-tolerance
#20
Vasanthi Soumya, Renjini A Padmanabhan, Shiny Titus, Malini Laloraya
PROBLEM: Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED, APS-1) patients characterized by Aire (autoimmune regulator) mutations and Aire homozygous knockouts (Aire(-/-) ) exhibit infertility. It is not clear as to what contributes to infertility in the above. METHOD OF STUDY: This study investigates the expression of "AIRE in the uterus" and its contribution to early pregnancy of mice by using quantitative real-time PCR analysis, immunohistochemistry, Western blotting, and in vivo Aire silencing experiments...
September 2016: American Journal of Reproductive Immunology: AJRI
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