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Polyendocrinopathies, Autoimmune (0):
Recent article
Polyendocrinopathies, Autoimmune
Clinical Immunology (137)1 2010
Abstract
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Genetics in Medicine (12)10 2010
Abstract
We developed a pilot program for the Persian Jewish community of greater Los Angeles. We screened for mutations responsible for four relatively frequent autosomal recessive conditions in Persian Jews in which effective interventions are available for each: Pseudocholinesterase deficiency (butyryl ch...
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PMID: 20733503
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
APECED is a rare disorder, which can be associated with bilateral keratitis or diffuse corneal vascularization in addition to systemic findings and ectodermal signs. The Boston type 1 keratoprosthesis is a promising treatment option to improve visual acuity in patients with APECED with corneal invol...
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PMID: 20098316
PDF is available here.
PDF is available here.
Abstract
Clinical presentation and course of six patients with type 1 autoimmune polyglandular failure are presented. Mean age of the patients was 17.3 +/- 5.2 years and age at presentation was 10.16 +/- 4.35 years. Four out of six had the classic triad. All of the patients first presented with hypoparathyro...
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PMID: 20480726
PDF is available here.
PDF is available here.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (27)1 2010
Abstract
A compound heterozygous mutation of A19T/R257X was detected in the proband. Her father had the A19T mutation in exon 1, but this mutation was not detected in 100 unrelated healthy individuals. Her mother had the R257X mutation in exon 6. CONCLUSION: This is the first report about AIRE mutations in C...
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PMID: 20140861
PDF is available here.
PDF is available here.
Acta medica Iranica (48)3 2010
Abstract
Autoimmune polyglandular syndrome (APS) type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus. APS type 2 occurs most often in middle aged females and is rare in children. Here an 11 year old boy is reported with...
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PMID: 21137658
PDF is available here.
PDF is available here.
Abstract
We report a case of APS-3C in 12-year-old boy with generalized vitiligo, alopecia universalis, and Hashimoto thyroiditis that is the youngest of previous reported cases....
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PMID: 20233565
PDF is available here.
PDF is available here.
Abstract
Abstract
Casopis lekaru ceskych (149)3 2010
Abstract
Adrenocortical disorders represents an important problem in patients with type 1 diabetes mellitus and therefore many physicians are concerned with this issue. The causes of adrenocortical insufficiency include both autoimmunity and dysregulation related to insufficiently compensated diabetes. Early...
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PMID: 20429347
PDF is available here.
PDF is available here.
Abstract
Orvosi Hetilap (150)34 2009
Abstract
Increasing data are known for dialogue between neuroendocrine and immune systems recently. Results of molecular genetic studies provided evidences for common languages of these systems by various signals including neurotransmitters, hormones, cytokines. It is proved the immune system is able to prod...
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PMID: 19648077
PDF is available here.
PDF is available here.
Abstract
Aim: To report the case of a patient with bilateral anterior granulomatous keratouveitis and sunset glow fundus. Method: Review of case record. Results: A 15-year-old patient had bilateral anterior granulomatous keratouveitis and sunset glow fundus similar to findings in Vogt-Koy...
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PMID: 19412868
PDF is available here.
PDF is available here.
Zhonghua Yixue Zazhi (89)18 2009
Abstract
(1) The CTLA-4 + 49 A/G polymorphism was significantly associated with T1DM complicated with thyroid autoimmunity (OR = 2.43, P < 0.01) and with T1DM alone (OR = 1.66, P < 0.05). (2) The CTLA-4 CT60 polymorphism was also significantly associated with T1DM complicated with thyroid autoimmunity (OR =...
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PMID: 19595177
PDF is available here.
PDF is available here.
Pediatric Research (65)5 Pt 2 2009
Abstract
We will focus on autoimmune polyendocrinopathy syndrome type 1 and recent advances in our understanding of this disease. We will also discuss two other monogenic autoimmune diseases: immunodysregulation, polyendocrinopathy, and enteropathy, X-linked and Autoimmune lymphoproliferative syndrome. Impor...
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PMID: 19190526
PDF is available here.
PDF is available here.
Medizinische Klinik (104)3 2009
Abstract
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 immu...
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PMID: 19337711
PDF is available here.
PDF is available here.
Medizinische Klinik (104)3 2009
Abstract
In 2003, 63% of diabetic patients showed at least one pathologically increased antibody titer (2004: 60%). In 32% of the patients, increased antibody titers were clinically inapparent. Apart from diabetes mellitus type 1, in 2003, 31% suffered from other AIEK requiring therapy (2004: +3.6%): 22.3% h...
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PMID: 19337707
PDF is available here.
PDF is available here.
Abstract
AD seems to be a frequent finding in IPEX syndrome, which is characterized by Treg anomalies. This hints to a possible role of Tregs in AD, which is then discussed in this study....
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PMID: 18795917
PDF is available here.
PDF is available here.
Clinical Endocrinology (70)3 2009
Abstract
Ten out of the 15 Venetian patients (66%) were homozygous for R257X or compound heterozygous with 1094-1106del13. One patient was homozygous for 1094-1106del13 and another for R139X. A novel mutation (1032-1033delGT) in combination with 1094-1106del13 was identified in one patient. No mutations were...
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PMID: 18616706
PDF is available here.
PDF is available here.
Abstract
Abstract
We have observed a worsening in splenic function in the children during a follow-up of a few years. Patients with APS-I should be evaluated for splenic function, since splenic dysfunction has important therapeutic implications, especially in children....
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PMID: 18496713
PDF is available here.
PDF is available here.
Abstract
We describe two unrelated boys with autoimmune poly-endocrine-candidiasis-ectodermal dystrophy syndrome (APECED) who, in addition to manifesting the most common symptoms (chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's disease), developed progressive muscular weakness in both the...
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PMID: 18461357
PDF is available here.
PDF is available here.
Abstract
The term autoimmune enteropathy (AIE) was applied to a form of "intractable diarrhoea" with serum gut autoantibodies, characterized by male predominance, early onset, poor response to parenteral nutrition and several autoimmune diseases, mainly type 1 diabetes. In recent years the vague concept of A...
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PMID: 19912978
PDF is available here.
PDF is available here.
Journal of Internal Medicine (234)4 2009
Abstract
Immunology (27) 2009
Abstract
Mutations in the transcriptional regulator, Aire, cause APECED, a polyglandular autoimmune disease with monogenic transmission. Animal models of APECED have revealed that Aire plays an important role in T cell tolerance induction in the thymus, mainly by promoting ectopic expression of a large reper...
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PMID: 19302042
PDF is available here.
PDF is available here.
Immunological Investigations (38)3-4 2009
Abstract
We have analyzed whether the polymorphism of the proinflammatory cytokine gene TNF-alpha; -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 el...
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PMID: 19811436
PDF is available here.
PDF is available here.
Journal of Immunology (181)12 2008
Abstract
We examined the immunopathogenic mechanisms in this model, including identification of SAP Ags. We found that B7-2-deficient NOD mice exhibit changes in cytokine and chemokine gene expression in spleens over time. There was an increase in IL-17 and a decrease in IL-10 transcript levels at 4 mo (prec...
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PMID: 19050296
PDF is available here.
PDF is available here.
Abstract
We report a female patient with small cell lung cancer (SCLC) and clinical findings consistent with polyglandular autoimmune syndrome type 2 (PGA2) and paraneoplastic neurological syndrome (PNS). To the best of our knowledge, this is the first reported case of SCLC associated with PGA2 and PNS. All...
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PMID: 19020277
PDF is available here.
PDF is available here.
Abstract
Molecular analysis of FOXP3 in the 14 subjects revealed 13 missense and splice-site mutations, including 7 novel mutations. Enteropathy, generally associated with endocrinopathy and eczema, was reported in all patients, particularly in those carrying mutations within FOXP3 functional domains or muta...
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PMID: 18951619
PDF is available here.
PDF is available here.
Abstract
With the discovery of disease-causing mutations in the FOXP3 gene in patients with AIE, a dramatic advance in the understanding of AIE was made. Subsequent studies indicated that FOXP3 is a key transcription factor indispensable for regulatory functions of T cells pointing to a critical role of regu...
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PMID: 19122524
PDF is available here.
PDF is available here.
Abstract
We here demonstrate that antibodies against IFN-alpha cause highly significant down-regulation of interferon-stimulated gene expression in cells from APECED patients' blood by blocking their highly dilute endogenous IFNs. This down-regulation was lost progressively as these APECED cells matured in c...
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PMID: 18606876
PDF is available here.
PDF is available here.
Clinical Immunology (129)1 2008
Abstract
We have developed a fast and reliable immunoassay based on radiolabelled IFN-omega for quantifying anti-IFN-omega antibodies. Sera from 48 APS I patients were analysed together with those from 5 control groups. All sera from APS I patients were positive for anti-IFN-omega, while, except one serum, a...
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PMID: 18708298
PDF is available here.
PDF is available here.
Abstract
We focus on unexpected clues from two prototypic/ highly informative autoimmune syndromes, acquired thymoma-associated myasthenia gravis and the monogenic autoimmune polyendocrine syndrome type-1 (APS1), caused by mutations in the AutoImmune Regulator (AIRE). Both involve the thymus, and in both we...
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PMID: 18727623
PDF is available here.
PDF is available here.
Abstract
Our data suggest that topical amphotericin B could continue to be a safe and active drug for daily administration for APECED patients. Posaconazole, voriconazole, and echinocandins may be useful in some complicated cases....
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PMID: 18597968
PDF is available here.
PDF is available here.
Abstract
We report here a German girl with rheumatoid factor positive arthritis, chronic mucocutaneous candidiasis, autoimmune hepatitis, chronic diarrhea, vitiligo, hypothyroidism, hypoparathyroidism, and adrenal failure who is homozygous for a novel mutation at the end of exon 3 of the AIRE gene (c.462G>A)...
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PMID: 19209622
PDF is available here.
PDF is available here.
Journal of Immunology (181)6 2008
Abstract
We have investigated the relative contribution of specific lymphocyte populations, with the goal of identifying the cell populations which may be targeted for rational therapeutic design. In this study, we show that T cells are indispensable to the breakdown of self-tolerance, in contrast to B cells...
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PMID: 18768863
PDF is available here.
PDF is available here.
Abstract
Abstract
We show in this research that B cells must be present for Aire-deficient mice to develop fulminant infiltrates. We found no evidence that autoantibodies were directly pathogenic; rather, B cells appeared to play a critical early role in T cell priming or expansion. A therapeutic reagent directed aga...
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PMID: 18755889
PDF is available here.
PDF is available here.
Abstract
Abstract
We reviewed the effect of sirolimus use in our cohort of IPEX and IPEX-like patients (n = 7). RESULTS AND DISCUSSION: Our patients exhibited features of enteropathy and recurrent infections with bacterial and viral pathogens. Before initiating sirolimus, six patients were treated with corticosteroid...
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PMID: 18481161
PDF is available here.
PDF is available here.
Abstract
We report on two prepubertal children who developed autoimmune gastritis. One child developed autoimmune gastritis as part of a polyglandular autoimmune disease from a family with polyglandular autoimmune disease type II (PGA type II) and the other as part of a classic "thyro-gastric cluster," which...
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PMID: 18214536
PDF is available here.
PDF is available here.
Abstract
An 8-year-old boy presented in 1995 with a 2-year history of hypertransaminasemia and hypergammaglobulinemia. Afterwards the patient displayed onychosis with a positive culture test for Candida albicans (CA). Because of the persistence of hypertransaminasemia, a percutaneous liver biopsy was perform...
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PMID: 17891543
PDF is available here.
PDF is available here.
Southern Medical Journal (101)7 2008
Abstract
The case of a woman with insulin-dependent diabetes mellitus, autoimmune thyroiditis, atrophic gastritis, pernicious anemia, and immunologic thrombocytopenic purpura consisting of autoimmune polyglandular syndrome type 3 associated with a history of gonadal failure is reported. Hepatitis C viral inf...
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PMID: 18580728
PDF is available here.
PDF is available here.
Clinical Pediatrics (47)6 2008
Abstract
Abstract
HLA-DRB1*03 is a stronger genetic marker in PGA than in MGA, foremost in those with early disease onset....
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PMID: 18390988
PDF is available here.
PDF is available here.
Abstract
Autoimmune neurologic disease may develop with autoimmune polyglandular syndrome type 1. Neurologic disease may also result from the associated endocrinopathies (hypoparathyroidism, hypothyroidism, diabetes mellitus), vitamin deficiency (vitamins B12 and E), and celiac sprue....
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PMID: 18519874
PDF is available here.
PDF is available here.
Abstract
We wanted to evaluate the autoimmune multiple low-dose streptozotocin (MLDSTZ) diabetes model in Aire(-/-) mice. Surprisingly, Aire heterozygote mice were most susceptible to MLDSTZ-induced diabetes, whereas Aire(-/-) mice displayed an intermediate sensitivity to diabetes. Furthermore, Aire(-/-) mac...
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PMID: 18399912
PDF is available here.
PDF is available here.
Abstract
Journal of Clinical Immunology (28 Suppl 1) 2008
Abstract
BACKGROUND: Several primary immune deficiency disorders are associated with autoimmunity and malignancy, suggesting a state of immune dysregulation. The concept of immune dysregulation as a direct cause of autoimmunity in primary immune deficiency disorders (PIDDs) has been strengthened by the recen...
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PMID: 18264745
PDF is available here.
PDF is available here.
Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive syndrome characterised by chronic mucocutaneous candidiasis (CMC) and multiple endocrine failures. While the spectrum and modalities of autoimmunity are the main objects of current research into APECED,...
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PMID: 18399903
PDF is available here.
PDF is available here.
Clinical Rheumatology (27)5 2008
Abstract
We report a man with chronic fatigue, multiple autoimmune disorders, and a muscle biopsy consistent with macrophagic myofasciitis. This rare and recently described muscle disorder is seen in patients exposed to vaccinations with aluminum hydroxide adjuvant. This case highlights the relationship betw...
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PMID: 18180978
PDF is available here.
PDF is available here.
Abstract
The past several years have brought an increased awareness of the prevalence of autoimmunity and immune dysregulation among patients who have primary immunodeficiency disorders (PIDD). The recent clinical and molecular definition of PIDD, in which the primary defect is in the immunoregulatory compar...
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PMID: 18424335
PDF is available here.
PDF is available here.
Abstract
Four patients with APS I were found in a Slovakian cohort of Addison patients, although the lack of detectable AIRE mutations and APS I-specific autoantibodies raises uncertainty regarding the pathogenesis in one of the patients. This study demonstrates the merits of screening patients with phenotyp...
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PMID: 18426830
PDF is available here.
PDF is available here.
Abstract
We utilized a novel G228W-knockin mouse model to show that this variant acted in a dominant-negative manner to cause a unique autoimmunity syndrome. In addition, the expression of a large number of Aire-regulated thymic antigens was partially inhibited in these animals, demonstrating the importance...
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PMID: 18414681
PDF is available here.
PDF is available here.
Pediatrics (121)4 2008
Abstract
We recently performed an unrelated donor transplant in a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome by using a reduced-intensity conditioning regimen. This transplant provided a rare opportunity to gain valuable insight into the regeneration of the immune sys...
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PMID: 18316354
PDF is available here.
PDF is available here.
EMBO Reports (9)4 2008
Abstract
We show that AIRE selectively interacts with histone H3 through its first plant homeodomain (PHD) finger (AIRE-PHD1) and preferentially binds to non-methylated H3K4 (H3K4me0). Accordingly, in vivo AIRE binds to and activates promoters containing low levels of H3K4me3 in human embryonic kidney 293 ce...
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PMID: 18292755
PDF is available here.
PDF is available here.
Clinical Pediatrics (47)3 2008
Abstract
New England Journal of Medicine (358)10 2008
Abstract
NALP5 appears to be a tissue-specific autoantigen involved in hypoparathyroidism in patients with APS-1. Autoantibodies against NALP5 appear to be highly specific and may be diagnostic for this prominent component of APS-1.
Copyright 2008 Massachusetts Medical Society....
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PMID: 18322283
PDF is available here.
PDF is available here.