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autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy

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https://www.readbyqxmd.com/read/27597936/novel-findings-into-aire-genetics-and-functioning-clinical-implications
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/26340833/-induction-of-central-tolerance-by-the-factor-aire-molecular-and-epigenetic-regulation
#14
REVIEW
Noëlla Lopes, Pierre Ferrier, Magali Irla
The establishment of thymic central tolerance is a critical process to prevent the development of autoimmune diseases. Medullary thymic epithelial cells (mTEC) are essential to this process through the expression of the transcription factor Aire, which controls the transcription of many genes encoding tissue-restricted antigens. Mutations in the Aire gene are responsible for a rare autoimmune disorder called APECED (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy). This review summarizes our current knowledge on the mode of action of Aire at the molecular and epigenetic levels in controlling the expression of tissue-restricted antigens...
August 2015: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/26239603/-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
#15
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, make 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)...
July 16, 2015: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/26233425/autoimmunity-and-immune-dysregulation-in-primary-immune-deficiency-disorders
#16
REVIEW
Heather K Lehman
Primary immune deficiencies are often associated with autoimmune disease due to the dysregulation of the immune system as a whole. In many immune deficiencies, lymphocytes may be present but dysfunctional, allowing for the development of excessive autoreactivity and resultant autoimmune disease. Autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy, autoimmune lymphoproliferative syndrome, immunodyregulation polyendocrinopathy enteropathy X-linked, IL-10/IL-10 receptor deficiencies, and PLCG2-associated antibody deficiency and immune dysregulation are disorders in which autoimmunity is a hallmark of the clinical disease presentation...
September 2015: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/26229032/autoimmune-polyendocrine-syndrome-and-thrombocytosis
#17
V Atquet, F Lienart, M Vaes
We describe a woman aged 37  years, affected with Hashimoto's thyroiditis, detected since the age of 17, with gonadic insufficiency with anti-ovarian antibodies since the age of 22  years and Addison's disease since 24  years old. At that moment, the diagnosis of autoimmune polyendocrine syndrome (APS) was made. Concomitant to this diagnosis, thrombocytosis was detected and aetiological assessment revealed an atrophy of the spleen. Differential diagnoses of APS and hyposplenism will be discussed. We will look at a possible association between these two pathologies...
December 2015: Acta Clinica Belgica
https://www.readbyqxmd.com/read/26213192/-difference-in-target-antigens-between-central-tolerance-and-peripheral-tolerance-deficiencies
#18
REVIEW
Natsuko Chida, Ichiro Kobayashi
Failure of the immunotolerance mechanisms causes multiple organ-specific autoimmune disorders. Mutations of autoimmune regulator (AIRE) gene result in central immunotolerance deficiency named autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy (APECED). Mutations of FOXP3 genes cause regulatory T cell (Treg) deficiency named immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Because T cell tolerance influences B cell tolerance, autoantibodies seem to reflect the presence of autoreactive T cells with the same antigen specificity...
2015: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/26184547/gene-environment-interactions-in-the-pathogenesis-of-autoimmunity-new-insights-on-the-role-of-toll-like-receptors
#19
REVIEW
Elena Gianchecchi, Alessandra Fierabracci
Autoimmune disorders are increasing worldwide. Although their pathogenesis has not been elucidated yet, a complex interaction of genetic and environmental factors is involved in their onset. Toll-like receptors (TLRs) represent a family of pattern recognition receptors involved in the recognition and in the defense of the host from invading microorganisms. They sense a wide range of pathogen associated molecular patterns (PAMPs) deriving from metabolic pathways selective of bacterial, viral, fungal and protozoan microorganisms...
November 2015: Autoimmunity Reviews
https://www.readbyqxmd.com/read/26181530/fulminant-hepatic-failure-in-autoimmune-polyendocrine-syndrome-type-1
#20
R Sinha, A R Chapman, G T Reid, P C Hayes
Fulminant hepatic failure is liver disease that causes encephalopathy within 8 weeks of onset of symptoms or within 2 weeks of onset of jaundice in a patient without prior evidence of liver disease. Autoimmune polyendocrine syndrome type-1 is an autoimmune autosomal-recessive condition causing parathyroid and adrenal insufficiency, alopecia, chronic mucocutaneous candidiasis, ectodermal dystrophy and, rarely, hepatitis. Although the liver can be affected as a consequence of the autoimmune process, the spectrum of disease activity is varied...
2015: Journal of the Royal College of Physicians of Edinburgh
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