نتایج جستجو برای: polyendocrinopathies

تعداد نتایج: 106  

2012
Hugh Emrys Evans EMRYS EVANS

Policies for integrated rural or regional development were conceived originally as a response to earlier development programs which tended to ignore the links between one sector and another. They call for complex planning procedures and extensive inter-agency coordination, which is hard to achieve in countries where political and economic conditions are unstable, and where the administrative an...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2011
Céline Pomié Rita Vicente Yirajen Vuddamalay Brita Ardesjö Lundgren Mark van der Hoek Geneviève Enault Jérémy Kagan Nicolas Fazilleau Hamish S Scott Paola Romagnoli Joost P M van Meerwijk

Mutations in the gene encoding the transcription factor autoimmune regulator (AIRE) are responsible for autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome. AIRE directs expression of tissue-restricted antigens in the thymic medulla and in lymph node stromal cells and thereby substantially contributes to induction of immunological tolerance to self-antigens. Data from experi...

Journal: :The Journal of the Association of Physicians of India 2013
N K Singh A Agrawal M N Singh V Kumar M Godhra A Gupta D P Yadav Usha R G Singh T B Singh

BACKGROUND Antiphospholipid antibody syndrome (APS) is a systemic autoimmune disease characterised by thrombophilic state and obstetrical complications. Prevalence of APS varies in different parts of the world. So this study was conducted to find out the prevalence and pattern of APS in systemic lupus erythematosus (SLE) in this region. MATERIAL AND METHODS In this hospital based longitudinal...

Journal: :Psychiatria Danubina 2015
Aytül Karabekiroğlu Ahmet Yılmaz Birsen Kocamanoğlu

The antiphospholipid syndrome (APS), which is an autoimmune disorder, is characterized by recurrent arterial or venous thrombosis in the presence of circulating antipshospholipid antibodies (Khamashta et al. 2004). The patients are considered to have the APS if they have at least one clinical and at least one labaratory criterion at the same time (Miyakis et al. 2006). APS may be an isolated di...

2010

Background: Polygluconate-B polymer (PGA) implants absorb quickly; and although they may not cause longterm joint or bone damage, they may cause synovitis and may not last long enough to effect healing. Poly-Llactic acid polymer (PLLA) implants absorb much more slowly but may cause delayed reactions or changes years after reconstruction. Objective: To compare the clinical and radiographic resul...

Journal: :Journal of immunology 2011
Sini M Laakso Eliisa Kekäläinen Laura H Rossi Tuisku-Tuulia Laurinolli Helga Mannerström Nelli Heikkilä Anni Lehtoviita Jaakko Perheentupa Hanna Jarva T Petteri Arstila

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease that is caused by mutations in the AIRE gene. Murine studies have linked AIRE to thymocyte selection and peripheral deletional tolerance, but the pathogenesis of the human disease remains unclear. In this study, we show that APECED patients have elevated IL-7 levels and a drastically decrea...

2012
Sarinda Millar Dennis Carson

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyendocrinopathy syndrome type 1, is a rare autosomal recessive disorder with a variable and evolving phenotypic course. It is caused by mutations in the autoimmune regulator (AIRE) gene. APECED syndrome is diagnosed clinically by the presence of 2 from 3 major criteria; chronic mucocutaneous can...

2014
Nicola Improda Donatella Capalbo Emilia Cirillo Manuela Cerbone Andrea Esposito Claudio Pignata Mariacarolina Salerno

BACKGROUND Autoimmune polyendocrine syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy, is a rare autosomal recessive disease due to pathogenic variants in the AIRE gene. Classic features of the syndrome are mucocutaneous candidiasis, chronic idiopathic hypoparathyroidism and Addison disease. However, other endocrine and non-endocrine components, may o...

2013
T. Petteri Arstila Hanna Jarva

Loss-of-function mutations in the Autoimmune Regulator (AIRE) gene cause a rare inherited form of autoimmune disease, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, also known as autoimmune polyglandular syndrome type 1. The patients suffer from multiple endocrine deficiencies, the most common manifestations being hypoparathyroidism, Addison's disease, hypogonadism, and seconda...

2014
Kai Kisand Pärt Peterson Martti Laan

Studies on autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) and its mouse model - both caused by mutant AIRE - have greatly advanced the understanding of thymic processes that generate a self-tolerant T-cell repertoire. Much is now known about the molecular mechanisms by which AIRE induces tissue-specific antigen expression in thymic epithelium, and how this leads to nega...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید