Polyglandular autoimmune syndromes

Published on Jul 1, 2009in European Journal of Endocrinology5.308
· DOI :10.1530/EJE-09-0044
George J. Kahaly6
Estimated H-index: 6
Background In recent years, scientific knowledge pertaining to the rare ORPHAN polyglandular autoimmune syndrome (registered code ORPHA 282196) has accumulated.
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#1Manuela DittmarH-Index: 17
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Data regarding polymorphisms of immunoregulatory genes in polyglandular autoimmunity (PGA) are lacking. We have analyzed whether the polymorphism of the proinflammatory cytokine gene TNF-α; -308 and mutations of the autoimmune regulator (AIRE) gene were associated with PGA in adults. Sixty-seven patients with PGA and 209 healthy controls were genotyped by multiplex minisequencing with capillary electrophoresis on an ABI PRISM-310 genetic analyzer. HLA DRB1 typing was performed using polymerase-c...
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: The etiology and pathogenesis of autoimmune endocrinopathies are now much clearer as a result of advances in our understanding of basic immunology, and particularly the development of novel animal models. Also crucial has been the molecular characterisation of target autoantigens, although this still remains elusive for some disorders, such as hypoparathyroidism and premature ovarian failure, retarding progress. The application of new genetic techniques, the detailed structural analysis of aut...
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#1Georg Dultz (University of Mainz)H-Index: 2
#2Manuela Dittmar (CAU: University of Kiel)H-Index: 8
Last. George J. Kahaly (University of Mainz)H-Index: 64
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□ The autoimmune thyroid diseases with the main phenotypes Graves' disease and Hashimoto's thyroiditis belong to the most frequently occurring autoimmune diseases. Genetic factors play a major role in their etiology, and in the past a couple of susceptibility genes have been identified. These are immunoregulatory genes like the HLA class II genes, the CTLA-4 gene and the PTPN22 gene and thyroid-specific genes for the TSH receptor and thyroglobulin. Even though this knowledge contributed to a bet...
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#1Georg DultzH-Index: 2
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Background: The lymphoid tyrosine phosphatase (LYP) encoded by the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene is a strong inhibitor of T cells. The single nucleotide polymorphism (SNP) C1858T within the PTPN22 gene was recently associated with autoimmune thyroid disease (AITD) and type I diabetes (T1D). The purpose of this study was to examine the joint association of this polymorphism with the co-occurrence of AITD and T1D. Methods: In this association study, 310 white subj...
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#1Manuela DittmarH-Index: 17
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Abstract A deficiency in the DNase enzyme, and thereby, a failure to remove DNA from nuclear antigens promotes disease susceptibility to autoimmune disorders. This study examined in patients with autoimmune thyroid disease (AITD) whether a reduced DNase activity is associated with sequence variations in the DNASE1 gene. The study included 18 patients with AITD, their 10 relatives, and 111 unrelated healthy controls. Serum DNase activity was determined with a validated, standardized enzyme-linked...
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#1Gustavo J. Martinez (University of Texas MD Anderson Cancer Center)H-Index: 34
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NaCD4 + helper T (TH) cells, upon activation by antigen-presenting cells (APC), dif- ferentiate into different types of effector cells that are characterized by their distinct cytokine production profiles and immune regulatory functions. In addition to TH1 and TH2 cells, a third subset of effector TH cells has recently been described and termed TH17. Since their identification, TH17 cells have emerged as crucial players in infectious, inflammatory, and autoimmune diseases, and cancer. In this re...
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#1Jinfang Zhu (NIH: National Institutes of Health)H-Index: 58
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In 1986, Mosmann and Coffman identified 2 subsets of activated CD4 T cells, Th1 and Th2 cells, which differed from each other in their pattern of cytokine production and their functions. Our understanding of the importance of the distinct differentiated forms of CD4 T cells and of the mechanisms through which they achieve their differentiated state has greatly expanded over the past 2 decades. Today at least 4 distinct CD4 T-cell subsets have been shown to exist, Th1, Th2, Th17, and iTreg cells....
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#1Manuela DittmarH-Index: 17
#2Maximilian IdeH-Index: 2
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Objectives: Polyglandular failure or autoimmunity (PGA) involves at least two endocrine diseases. Several genes may play a role in its etiology. This study analyzed 1) whether HLA-DRB1, HLA-DQB1, and MHC class I chain-related gene A (MICA) polymorphisms are associated in PGA and 2) whether PGA patients display stronger associations with these immune genes than patients with monoglandular autoimmunity (MGA). Design: Association study. Methods: HLA-DRB1, HLA-DQB1, and MICA alleles were analyzed in...
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#1Amanda K. Huber (University of Cincinnati Academic Health Center)H-Index: 5
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Type 1 diabetes (T1D) and autoimmune thyroid diseases (AITD) frequently occur together within families and in the same individual. The co-occurrence of T1D and AITD in the same patient is one of the variants of the autoimmune polyglandular syndrome type 3 [APS3 variant (APS3v)]. Epidemiological data point to a strong genetic influence on the shared susceptibility to T1D and AITD. Recently, significant progress has been made in our understanding of the genetic association between T1D and AITD. At...
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#1Fotini K. Kavvoura (UoI: University of Ioannina)H-Index: 19
#2Takashi Akamizu (Kyoto University)H-Index: 59
Last. John P. A. Ioannidis (FORTH: Foundation for Research & Technology – Hellas)H-Index: 204
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Context: Cytotoxic T-lymphocyte associated antigen 4 (CTLA-4) polymorphisms have been widely examined for their associations with autoimmune thyroid diseases [Graves’ disease (GD) and Hashimoto thyroiditis (HT)], but their relative population effect remains unclear. Objective: The aim was to generate large-scale evidence on whether the CTLA-4 polymorphisms (A49G and CT60) and haplotypes thereof increase the susceptibility to GD and/or HT. Design, Setting, and Participants: Meta-analyses of group...
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Resumen Los sindromes pluriglandulares autoinmunes (SPA) afectan a multiples glandulas endocrinas y asocian otras enfermedades autoinmunes. El SPA tipo 1 se presenta con hipoparatiroidismo, candidiasis mucocutanea y enfermedad de Addison, se debe a una mutacion en el gen AutoImmune Regulator (AIRE). El diagnostico es clinico ademas de la secuenciacion del gen AIRE. El SPA tipo 2 se presenta con enfermedad de Addison, diabetes mellitus tipo1 o enfermedad tiroidea autoinmune, se han implicado mult...
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Type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) are the most frequent chronic autoimmune diseases worldwide. Several autoimmune endocrine and non-endocrine disorders tend to occur together. T1D and AITD often cluster in individuals and families, seen in the formation of autoimmune polyendocrinopathy (AP). The close relationship between these two diseases is largely explained by sharing a common genetic background. The HLA antigens DQ2 (DQA1*0501-DQB1*0201) and DQ8 (DQA1*0301-DQB1*030...
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The autoimmune polyglandular syndrome type 1 (APS1) is caused by pathogenic variants of the autoimmune regulator (AIRE) gene, located in the chromosomal region 21q22.3. The related protein, AIRE, enhances thymic self-representation and immune self-tolerance by localization to chromatin and anchorage to multimolecular complexes involved in the initiation and post-initiation events of tissue-specific antigen-encoding gene transcription. Once synthesized, the self-antigens are presented to, and cau...
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Abstract null null Once central diabetes insipidus (CDI) has been diagnosed, every effort should be made to reveal its underlying cause. Autoimmune CDI should be considered in the differential diagnosis of idiopathic CDI and also of mass lesions of the sella region. An autoimmune etiology of CDI was first suggested in 1983 by the detection of autoantibodies to hypothalamic vasopressin-producing cells (AVPcAb) in adults and also in children with the disease, using the indirect immunofluorescence ...
Autoimmune polyendocrine syndrome type II (APS II) is a rare endocrine disorder that involves the adrenal gland (Addison's disease), thyroid (autoimmune thyroiditis), pancreas (type 1 diabetes), and other non-endocrine organs. Herein, we report a case of a 58-year-old woman with a past medical history of systemic lupus erythematosus (SLE) and Addison's disease, who initially presented with nocturia, polyuria, abnormal sweating, fatigue, hair thinning, heat and cold intolerance, and progressive d...
BACKGRAUND Аutoimmune polyglandular syndrome (APS) it is characterized by damage to two or more endocrine glands, which eventually results in the hormonal failure. Some clinical studies describe the development of myocardial lesion in the setting of combined autoimmune endocrine pathology. In Russia the myocardial condition in adult patients with APS types 2 and 3 was examined for the first time. AIM To evaluate the structure and functional state of the myocardium according to magnetic resonance...