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autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy

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https://www.readbyqxmd.com/read/28256018/oral-lichen-planus-in-childhood-a-case-series
#1
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...
March 3, 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
#2
Mithu Guha, Mario Saare, Julia Maslovskaja, Kai Kisand, Ingrid Liiv, Uku Haljasorg, Tonis Tasa, Andres Metspalu, Lili Milani, Part 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 thymic medullary epithelium. Mutations in AIRE cause a monogenic autoimmune disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). 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...
February 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28222032/unexplained-cyanosis-caused-by-hepatopulmonary-syndrome-in-a-girl-with-apeced-syndrome
#3
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
#4
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 11, 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27420045/type-1-diabetes-in-autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy-syndrome-apeced-a-rare-manifestation-in-a-rare-disease
#11
REVIEW
Alessandra Fierabracci
Type 1 autoimmune polyglandular syndrome (APS1) is a rare autosomal recessive disease, caused by mutations in the autoimmune regulator gene (AIRE); the encoded Aire protein plays an important role in the establishment of the immunological tolerance acting as a transcriptional regulator of the expression of organ-specific antigens within the thymus in perinatal age. While a high prevalence for this rare syndrome is reported in Finland and Scandinavia (Norway), autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) cohorts of patients are also detected in continental Italy and Sardinia, among Iranian Jews, as well as in other countries...
July 12, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27281783/autoimmune-regulator-aire-is-expressed-in-spermatogenic-cells-and-it-altered-the-expression-of-several-nucleic-acid-binding-and-cytoskeletal-proteins-in-germ-cell-1-spermatogonial-gc1-spg-cells
#12
Karthika Radhakrishnan, Kongattu P Bhagya, Anil Tr Kumar, Anandavalli N Devi, Jeeva Sengottaiyan, Pradeep G Kumar
Autoimmune regulator (AIRE) is a gene associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). AIRE is expressed heavily in the thymic epithelial cells and is involved in maintaining self-tolerance through regulating the expression of tissue-specific antigens. The testes are the most predominant extrathymic location where a heavy expression of AIRE is reported. Homozygous Aire-deficient male mice were infertile, possibly due to impaired spermatogenesis, deregulated germ cell apoptosis, or autoimmunity...
August 2016: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/27267335/primary-immunodeficiency-association-with-systemic-lupus-erythematosus-review-of-literature-and-lessons-learned-by-the-rheumatology-division-of-a-tertiary-university-hospital-at-s%C3%A3-o-paulo-brazil
#13
Paolo Ruggero Errante, Sandro Félix Perazzio, Josias Brito Frazão, Neusa Pereira da Silva, Luis Eduardo Coelho Andrade
Primary immunodeficiency disorders (PID) represent a heterogeneous group of diseases resulting from inherited defects in the development, maturation and normal function of immune cells; thus, turning individuals susceptible to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (AIDs), in special systemic lupus erythematosus (SLE) which arose associated to the course of PID, are described. Classically, the literature describes three groups of PID associated with SLE: (1) deficiency of Complement pathway components, (2) defects in immunoglobulin synthesis, and (3) chronic granulomatous disease (CGD)...
January 2016: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/27266815/aire-genetic-variants-and-predisposition-to-polygenic-autoimmune-disease-the-case-of-graves-disease-and-a-systematic-literature-review
#14
REVIEW
Roger Colobran, Mireia Giménez-Barcons, Ana Marín-Sánchez, Eduard Porta-Pardo, Ricardo Pujol-Borrell
Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome associated with AIRE-inactivating recessive or dominant mutations. Polymorphisms in AIRE have been proposed to be implicated in genetic susceptibility to non-Mendelian organ specific autoimmune diseases. Because there is evidence that in predisposition to Graves' disease (GD) central tolerance is crucial, we investigated whether AIRE polymorphisms could modulate risk of GD...
August 2016: Human Immunology
https://www.readbyqxmd.com/read/27262317/expanded-cd4-effector-memory-t-cell-subset-in-apeced-produces-predominantly-interferon-gamma
#15
Nelli Heikkilä, Sini M Laakso, Helga Mannerström, Eliisa Kekäläinen, Päivi Saavalainen, Hanna Jarva, Tommi P Arstila
PURPOSE: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare human autoimmune disorder caused by mutations in the AIRE (autoimmune regulator) gene. Loss of AIRE disrupts thymic negative selection and gives rise to impaired cytotoxic and regulatory T cell populations. To date, CD4(+) T helper (Th) cells remain little studied. This study aims to elucidate their role in APECED pathogenesis. METHODS: Th cells were explored in ten APECED patients and ten healthy controls using cell culture assays, multiparameter flow cytometry, and transcriptome analysis...
August 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27105486/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy-report-of-three-cases-from-iran
#16
Mahnaz Seifi-Alan, Roshanak Shamsi, Aria Setoodeh, Fatemeh Sayarifard, Parisa Aghasi, Farzad Kompani, Soudeh Ghafouri-Fard, Farzaneh Abbasi
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (AIRE) gene. It is distinguished by an immune-mediated damage of endocrine tissues, chronic candidiasis, and ectodermal disorder. APECED has been shown to be frequent in some populations including Iranian Jews. Here we report three cases of APECED from two independent Iranian Muslim families. Addison's disease, hypoparathyroidismand mucocutaneous candidiasis were shared clinical manifestations in all patients...
August 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27099223/-polyglandular-autoimmune-syndromes-an-overview
#17
P Komminoth
Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune diseases of non-endocrine organs may also be found. Early diagnosis of PGAS is often overlooked because of heterogeneous symptoms and the progressive occurrence of the individual diseases. The two most important forms of PGAS are the juvenile and adult types...
May 2016: Der Pathologe
https://www.readbyqxmd.com/read/26912174/aire-is-not-essential-for-the-induction-of-human-tolerogenic-dendritic-cells
#18
Katherine L Crossland, Mario Abinun, Peter D Arkwright, Timothy D Cheetham, Simon H Pearce, Catharien M U Hilkens, Desa Lilic
Loss-of-function mutations of the Autoimmune Regulator (AIRE) gene results in organ-specific autoimmunity and disease Autoimmune Polyendocrinopathy type 1 (APS1)/Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). The AIRE protein is crucial in the induction of central tolerance, promoting ectopic expression of tissue-specific antigens in medullary thymic epithelial cells and enabling removal of self-reactive T-cells. AIRE expression has recently been detected in myeloid dendritic cells (DC), suggesting AIRE may have a significant role in peripheral tolerance...
June 2016: Autoimmunity
https://www.readbyqxmd.com/read/26903483/anticommensal-responses-are-associated-with-regulatory-t-cell-defect-in-autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy-patients
#19
Iivo Hetemäki, Hanna Jarva, Nicolas Kluger, Hanna-Mari Baldauf, Sini Laakso, Eirik Bratland, Eystein S Husebye, Kai Kisand, Annamari Ranki, Pärt Peterson, T Petteri Arstila
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease caused by mutations in the AIRE gene. Although mainly an endocrine disease, a substantial fraction of patients have gastrointestinal manifestations. In this study, we have examined the role of anticommensal responses and their regulation. APECED patients had increased levels of Abs against Saccharomyces cerevisiae (p < 0.0001) and against several species of commensal gut bacteria, but not against species predominantly associated with other locations...
April 1, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/26509012/early-onset-hypoparathyroidism-and-chronic-keratitis-revealing-apeced
#20
Ellia Mezgueldi, Aurélia Bertholet-Thomas, Solange Milazzo, Michael Morris, Justine Bacchetta, Nicole Fabien, Pierre Cochat, Anthony P Weetman, Elizabeth Helen Kemp, Alexandre Belot
Early diagnosis of potentially life-threatening autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical history showing a mild and transient Candida infection...
October 2015: Clinical Case Reports
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