1,310 results match your criteria Polyglandular Autoimmune Syndrome Type II


A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.

Medicine (Baltimore) 2020 May;99(18):e20000

Department of Endocrinology and Metabolism, The First Hospital of Jilin University, Changchun, China.

Rationale: Autoimmune polyendocrine syndrome type 1 (APS-1), also referred as the autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED), is a rare autosomal inherited disease predominantly among Caucasians from Northern Europe. This syndrome is very rare in East Asian population.

Patients Concerns: Here, we describe a case of a 15-year-old Chinese boy admitted due to a 1-month history of intermittent fatigue, nausea, vomiting, and diarrhea. Read More

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http://dx.doi.org/10.1097/MD.0000000000020000DOI Listing

Peritonitis on Fasting-Refeeding in APECED Patients: A Case Series.

Am J Gastroenterol 2020 05;115(5):790-795

Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.14309/ajg.0000000000000599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286105PMC

Prevalence of other autoimmune diseases in polyglandular autoimmune syndromes type II and III.

J Endocrinol Invest 2020 Mar 29. Epub 2020 Mar 29.

First Department of Medicine, Medical School, University of Pécs, 13 Ifjúság, Pecs, 7624, Hungary.

Purpose: Polyglandular autoimmune syndromes (PAS) are complex, heterogeneous disorders in which various autoimmune diseases can occur, affecting both endocrine and non-endocrine organs. In this meta-analysis, the prevalence of associated autoimmune disorders was investigated in PAS II and III.

Methods: A comprehensive search in MEDLINE and Embase databases identified 479 studies with the keywords of PAS II and PAS III. Read More

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http://dx.doi.org/10.1007/s40618-020-01229-1DOI Listing

Autoimmune polyglandular syndrome type II with co-manifestation of Addison's and Graves' disease in a 15-year-old boy: case report and literature review.

J Pediatr Endocrinol Metab 2020 Apr;33(4):575-578

Catholic Childrens Hospital Wilhelmstift, Department of Paediatrics, Hamburg, Germany.

Background Autoimmune polyglandular syndrome type II (APS II) is defined as the combination of autoimmune adrenal insufficiency and autoimmune thyroid disease (AITD) and/or type I diabetes mellitus (T1DM) in the same patient. Case presentation A 15-year-old boy had a history of weight loss, nausea and vomiting, headache, restlessness, and tanned skin. He was diagnosed with Graves' disease. Read More

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http://dx.doi.org/10.1515/jpem-2019-0506DOI Listing

Autoimmune polyglandular syndrome type III associated with antineutrophil cytoplasmic autoantibody-mediated crescentic glomerulonephritis: A case report and literature review.

Medicine (Baltimore) 2020 Feb;99(7):e19179

Department of VIP Unit, China-Japan Union Hospital of Jilin University, Changchun, China.

Rationale: Polyglandular autoimmune syndromes (PAS) are a heterogeneous group of rare diseases characterized by the association of at least 2 organ-specific autoimmune disorders, concerning both the endocrine and nonendocrine organs. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune conditions (other than Addison disease), and is divided into 4 subtypes. We describe a patient with Hashimoto thyroiditis, adult-onset Still disease, alopecia, vasculitis, antineutrophil cytoplasmic antibody (ANCA)-mediated crescentic glomerulonephritis, and hyperparathyroidism. Read More

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http://dx.doi.org/10.1097/MD.0000000000019179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035075PMC
February 2020
5.723 Impact Factor

Autoimmune Polyglandular Syndrome type 2.

Rev Assoc Med Bras (1992) 2019 Dec;65(12):1434-1437

. Hospital Assistant with a Degree on Internal Medicine, Tondela-Viseu Hospital Center, Portugal.

Autoimmune polyglandular syndrome type 2 (APS 2) is defined by the presence of Addison's disease (AD) associated with autoimmune thyroid disease and/or Type 1 diabetes mellitus (T1DM). It is a rare disease, affecting about 1.4-2 cases/100,000 inhabitants. Read More

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http://dx.doi.org/10.1590/1806-9282.65.12.1434DOI Listing
December 2019

A Diagnostic Conundrum of Distributive Shock: Autoimmune Polyglandular Syndrome Type II.

Indian J Crit Care Med 2019 Dec;23(12):582-583

Department of Internal Medicine, Cleveland Clinic Akron General, Akron, Ohio, USA.

Autoimmune polyglandular syndrome (AIPS) is a heterogeneous condition characterized by the loss of immune tolerance and resultant dysfunction of multiple endocrine organs. Although this condition is insidious in nature, it frequently presents initially as adrenal insufficiency (AI). For patients in shock, physicians routinely assess for infections, volume depletion as well as cardiogenic and iatrogenic causes of shock. Read More

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http://dx.doi.org/10.5005/jp-journals-10071-23297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970207PMC
December 2019

[The Schmidt's Syndrome].

Dtsch Med Wochenschr 2019 12 2;144(24):1741-1744. Epub 2019 Dec 2.

Abteilung für Innere Medizin, Bundeswehrkrankenhaus Hamburg.

History And Clinical Findings: We report the case within a 22-year-old patient, initially seen because of fatigue, weight loss and discoloration of the skin. A Hashimoto-Thyroditis had been diagnosed a few months prior to the clinical presentation.

Diagnostics: Blood samples showed a hyponatremia and hyperkalemia. Read More

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http://dx.doi.org/10.1055/a-0875-4538DOI Listing
December 2019

A Case of Unremitting Diarrhea.

Gastroenterology 2020 01 14;158(1):62-64. Epub 2019 Jun 14.

Department of Internal Medicine, Division of Gastroenterology and Hepatology, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1053/j.gastro.2019.05.070DOI Listing
January 2020

Human Leukocyte Antigen (HLA) Subtype-Dependent Development of Myasthenia Gravis, Type-1 Diabetes Mellitus, and Hashimoto Disease: A Case Report of Autoimmune Polyendocrine Syndrome Type 3.

Am J Case Rep 2019 Nov 20;20:1709-1714. Epub 2019 Nov 20.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Kurume University School of Medicine, Kurume, Fukuoka, Japan.

BACKGROUND Patients with type 1 diabetes mellitus, myasthenia gravis (MG), and Hashimoto disease are diagnosed as having autoimmune polyendocrine syndrome type 3 (APS3). APS3 is rare, and its pathogenesis is unclear. We describe a female patient with APS3 whose human leukocyte antigen (HLA) type could provide a clue to the pathogenesis of APS3. Read More

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http://dx.doi.org/10.12659/AJCR.918996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878962PMC
November 2019

Autoimmune polyglandular diseases.

Best Pract Res Clin Endocrinol Metab 2019 12 4;33(6):101344. Epub 2019 Oct 4.

Department of Medicine I, Johannes Gutenberg University Medical Center, Mainz, Germany. Electronic address:

Autoimmune polyglandular diseases (APD) are defined as the presence of two autoimmune -induced endocrine failures. With respect to the significant morbidity and potential mortality of APD, the diagnostic objective is to detect APD at an early stage, with the advantage of less frequent complications, effective therapy and better prognosis. This requires that patients at risk be regularly screened for subclinical endocrinopathies prior to clinical manifestation. Read More

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http://dx.doi.org/10.1016/j.beem.2019.101344DOI Listing
December 2019

Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1.

Immunobiology 2019 11 6;224(6):728-733. Epub 2019 Sep 6.

Immunology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

Purpose: Autoimmune polyendocrine type 1 (APS-1) is a complex inherited autosomal recessive disorder. Classically, it appears within the first decade of life followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addison's disease, and hypoparathyroidism. The clinical phenotype of APS-1 varies depending upon mutations in the autoimmune regulator gene (AIRE) on chromosome 21q22. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01712985193016
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http://dx.doi.org/10.1016/j.imbio.2019.09.004DOI Listing
November 2019
3 Reads
3.044 Impact Factor

A Patient with Type 3 Autoimmune Polyglandular Syndrome who Developed Systemic Lupus Erythematosus 8 years after the Diagnosis of Autoimmune Hepatitis.

Acta Med Okayama 2019 Aug;73(4):367-372

Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.

Eight years prior to her present admission, a 61-year-old Japanese woman was diagnosed with autoimmune hepatitis, slowly progressive insulin-dependent diabetes mellitus, and chronic thyroiditis; she had been treated with oral prednisolone (PSL). After she suddenly discontinued PSL, she newly developed systemic lupus erythematosus. A combination therapy of oral PSL and intravenous cyclophosphamide resulted in remission. Read More

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http://dx.doi.org/10.18926/AMO/56940DOI Listing
August 2019
6 Reads

Type II polyglandular autoimmune syndrome: a case of Addison's disease precipitated by use of levothyroxine.

BMJ Case Rep 2019 Aug 21;12(8). Epub 2019 Aug 21.

Endocrinology, Covenant Clinic, Waterloo, Iowa, USA.

A 46-year-old woman was referred to the endocrinology clinic for evaluation of progressive fatigue, dizziness and treatment-resistant hypothyroidism. Initial laboratory results revealed hypothyroidism, hyponatraemia and hyperkalaemia. Liothyronine sodium (Cytomel) was initiated, which exacerbated her fatigue and dizziness. Read More

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http://dx.doi.org/10.1136/bcr-2019-230760DOI Listing
August 2019
3 Reads

Autoimmune Polyglandular Syndrome Type 1: a case report.

BMC Med Genet 2019 08 16;20(1):143. Epub 2019 Aug 16.

Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.

Background: Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenocortical failure. Read More

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http://dx.doi.org/10.1186/s12881-019-0870-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698041PMC
August 2019
2 Reads

[Endoscopic treatment for gastric carcinoid tumor in a patient with type A gastritis complicated with autoimmune polyendocrine syndrome: a case report].

Nihon Shokakibyo Gakkai Zasshi 2019 ;116(8):654-659

Department of Gastroenterology, Kansai Rosai Hospital.

A 42-year-old female developed type 1 diabetes mellitus at the age of 16 years and received insulin therapy. Esophagogastroduodenoscopy revealed an atrophic change localized in the gastric body and a small, protruding gastric lesion. Biopsy revealed that this lesion was gastric neuroendocrine tumor. Read More

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http://dx.doi.org/10.11405/nisshoshi.116.654DOI Listing
September 2019
4 Reads

Clinical manifestations and gastrointestinal pathology in 40 patients with autoimmune enteropathy.

Clin Immunol 2019 10 4;207:10-17. Epub 2019 Jul 4.

Gastroenterology and Hepatology Section, Department of Medicine, University of Perugia Medical School, Perugia, Italy.

Autoimmune enteropathy (AIE) is a rare condition that may affect pediatric and adult patients, frequently associated with primary immunodeficiencies. We performed a retrospective study on clinical and histological findings from 40 AIE patients. Histological presentation showed a prevalent celiac disease pattern (50%), followed by the mixed pattern (35%), independently of age, chronic active duodenitis (10%), and GVHD-like pattern (5%). Read More

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http://dx.doi.org/10.1016/j.clim.2019.07.001DOI Listing
October 2019
4 Reads

Response to comment on 'AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies'.

Elife 2019 06 27;8. Epub 2019 Jun 27.

Peter Gorer Department of Immunobiology, King's College London, London, United Kingdom.

In 2016, we reported four substantial observations of APECED/APS1 patients, who are deficient in AIRE, a major regulator of central T cell tolerance (Meyer et al., 2016). Two of those observations have been challenged. Read More

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http://dx.doi.org/10.7554/eLife.45826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597236PMC
June 2019
3 Reads

Comment on 'AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies'.

Elife 2019 06 27;8. Epub 2019 Jun 27.

Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.

The gene plays a key role in the development of central immune tolerance by promoting thymic presentation of tissue-specific molecules. Patients with -deficiency develop multiple autoimmune manifestations and display autoantibodies against the affected tissues. In 2016 it was reported that: i) the spectrum of autoantibodies in patients with -deficiency is much broader than previously appreciated; ii) neutralizing autoantibodies to type I interferons (IFNs) could provide protection against type 1 diabetes in these patients (Meyer et al. Read More

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http://dx.doi.org/10.7554/eLife.43578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597240PMC
June 2019
4 Reads

Petrified pinna and pericarditis in autoimmune polyendocrine syndrome.

BMJ Case Rep 2019 Jun 4;12(6). Epub 2019 Jun 4.

Internal Medicine, St Mary Mercy Hospital, Livonia, Michigan, USA.

Petrified pinna refers to the calcification or ossification of the external auricular cartilage. It is an uncommon clinical entity and is most often associated with local trauma, frostbite or inflammation. Auricular calcification may be the exclusive cutaneous marker of underlying endocrinopathy. Read More

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http://dx.doi.org/10.1136/bcr-2019-229369DOI Listing
June 2019
5 Reads

A rare case of autoimmune polyglandular syndrome with Sjögren's syndrome and primary hypoparathyroidism.

BMJ Case Rep 2019 May 27;12(5). Epub 2019 May 27.

Department of Diabetes and Endocrinology, Graduate School of Medicine, Gifu University, Gifu, Japan.

A 31-year-old woman experienced tetany and was diagnosed with Hashimoto thyroiditis and hypoparathyroidism. At 33 years of age, her renal function gradually decreased. At 39 years of age, she moved to our hospital and was diagnosed with tubulointerstitial nephritis by renal biopsy. Read More

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http://dx.doi.org/10.1136/bcr-2018-228634DOI Listing
May 2019
7 Reads

Autoimmune Polyendocrinopathy.

J Clin Endocrinol Metab 2019 10;104(10):4769-4782

Orphan Disease Center for Autoimmune Polyendocrinopathy, Department of Medicine I, Johannes Gutenberg University Medical Center, Mainz, Germany.

Context: This mini-review offers an update on the rare autoimmune polyendocrinopathy (AP) syndrome with a synopsis of recent developments.

Design And Results: Systematic search for studies related to pathogenesis, immunogenetics, screening, diagnosis, clinical spectrum, and epidemiology of AP. AP (orphan code ORPHA 282196) is defined as the autoimmune-induced failure of at least two glands. Read More

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http://dx.doi.org/10.1210/jc.2019-00602DOI Listing
October 2019
4 Reads

Linear scleroderma "en coup de sabre" with extensive brain involvement-Clinicopathologic correlations and response to anti-Interleukin-6 therapy.

Orphanet J Rare Dis 2019 05 16;14(1):110. Epub 2019 May 16.

Community Care Rheumatology, 1 West Avenue, Saratoga Springs, NY, 12866, USA.

Linear scleroderma "en coup de sabre" (LSES) variant is a cephalic subtype of localized scleroderma that can be associated with extracutaneous stigmata, such as epilepsy, dementia syndromes, as well as focal central nervous system neurologic deficits. While the pathophysiology of cutaneous linear scleroderma includes endothelial cell injury and up regulation of pro-fibrogenic pathways, the basis of LSES-associated neurologic complications is largely unknown. We report a patient with a history of LSES who developed intractable epilepsy and cognitive decline. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1015-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524280PMC
May 2019
32 Reads
3.358 Impact Factor

AIRE expression controls the peripheral selection of autoreactive B cells.

Sci Immunol 2019 04;4(34)

Department of Immunobiology, Yale University School of Medicine, New Haven, CT 06511, USA.

Autoimmune regulator (AIRE) mutations result in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome characterized by defective central T cell tolerance and the production of many autoantibodies targeting tissue-specific antigens and cytokines. By studying CD3- and AIRE-deficient patients, we found that lack of either T cells or AIRE function resulted in the peripheral accumulation of autoreactive mature naïve B cells. Proteomic arrays and Biacore affinity measurements revealed that unmutated antibodies expressed by these autoreactive naïve B cells recognized soluble molecules and cytokines including insulin, IL-17A, and IL-17F, which are AIRE-dependent thymic peripheral tissue antigens targeted by autoimmune responses in APECED. Read More

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http://immunology.sciencemag.org/lookup/doi/10.1126/sciimmun
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http://dx.doi.org/10.1126/sciimmunol.aav6778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7257641PMC
April 2019
11 Reads

Jaundice and anaemia as presenting features of an incomplete autoimmune polyglandular syndrome type II.

BMJ Case Rep 2019 Apr 8;12(4). Epub 2019 Apr 8.

Department of General Medicine, R.G. Kar Medical College and Hospital, Kolkata, India.

The coexistence of adrenal failure with either autoimmune thyroid disease and/or type 1 diabetes is defined as autoimmune polyglandular syndrome (APS) type 2 or Schmidt's syndrome. Vitiligo, hypergonadotropic hypogonadism, chronic autoimmune hepatitis, alopecia, pernicious anaemia and seronegative arthritis may also be present. We present a case of 45-year-old Indian man with progressive jaundice and asthenia for 3 months. Read More

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http://dx.doi.org/10.1136/bcr-2018-228490DOI Listing
April 2019
11 Reads

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Front Immunol 2019 21;10:412. Epub 2019 Mar 21.

Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a point mutation with an adenine-to-guanine transition at position 3243 of the mitochondrial DNA (mtDNA; m. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437310PMC
June 2020
19 Reads

Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3.

Int J Dermatol 2019 Jun 28;58(6):e123-e125. Epub 2019 Mar 28.

Department of Dermatology, Allergology and Venereology, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1111/ijd.14446DOI Listing
June 2019
7 Reads

[Hypophysitis and retroperitoneal fibrosis associated with autoimmune polyglandular syndrome and IgG4-related disease. Report of one case].

Rev Med Chil 2018 Dec;146(12):1486-1492

Servicio de Medicina, Hospital Naval A. Nef., Viña del Mar, Chile.

We report a 23 year old woman presenting with a nephrotic syndrome due to minimal change disease, central diabetes insipidus, primary hypothyroidism, vitiligo and universal alopecia. Eleven years later, she presented secondary amenorrhea due to hypogonadotropic hypogonadism, with mild hyperprolactinemia and central adrenal insufficiency. A magnetic resonance imaging of the sella turcica showed a pituitary mass with suprasellar extension that was resected using a transsphenoidal approach. Read More

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http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.4067/s0034-98872018001201486DOI Listing
December 2018
20 Reads
0.373 Impact Factor

Case of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis.

BMJ Case Rep 2019 Feb 26;12(2). Epub 2019 Feb 26.

Department of Internal Medicine, Monmouth Medical Center, Long Branch, New Jersey, USA.

A 24-year-old man with no significant medical history presented to the medical clinic with vomiting and giddiness for 2 days, loss of appetite for 1 month and progressive fatigability for the preceding 4 months. On examination, he was found to be hypotensive and was admitted to the hospital for work-up. Considering his abnormal labs and physical findings, he was worked up and was diagnosed with primary adrenal insufficiency. Read More

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http://dx.doi.org/10.1136/bcr-2018-227187DOI Listing
February 2019
17 Reads

A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells.

Immunity 2019 02 29;50(2):362-377.e6. Epub 2019 Jan 29.

Diabetes Center, University of California, San Francisco, San Francisco, CA 94143, USA; Sean N. Parker Autoimmune Research Laboratory, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

Regulatory T (Treg) cells maintain immune tolerance through the master transcription factor forkhead box P3 (FOXP3), which is crucial for Treg cell function and homeostasis. We identified an IPEX (immune dysregulation polyendocrinopathy enteropathy X-linked) syndrome patient with a FOXP3 mutation in the domain swap interface of the protein. Recapitulation of this Foxp3 variant in mice led to the development of an autoimmune syndrome consistent with an unrestrained T helper type 2 (Th2) immune response. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10747613183056
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http://dx.doi.org/10.1016/j.immuni.2018.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476426PMC
February 2019
7 Reads
21.561 Impact Factor

The association between the development of autoimmune polyglandular syndrome in adults and polymorphism of HLA class II genes and the predisposition to the development of chronic adrenal insufficiency in the context of these syndromes.

Ter Arkh 2018 Nov;90(10):23-29

National Medical Research Center of Endocrinology, Ministry of Health of Russia, Moscow, Russia.

Aim: To consider association of chronic adrenal insufficiency in patients with APS of adults with polymorphism of class II HLA genes, -CTLA-4 and PTPN-22.

Materials And Methods: The case-control study involved 78 patients with APS 2, 3, 4 types and 109 healthy subjects). Alleles of the HLA class II genes, CTLA-4 and PTPN-22 were identified by the multiprimer allele-specific PCR method. Read More

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http://dx.doi.org/10.26442/terarkh2018901023-29DOI Listing
November 2018
10 Reads

HLA-DQB1 Position 57 Defines Susceptibility to Isolated and Polyglandular Autoimmunity in Adults: Interaction With Gender.

J Clin Endocrinol Metab 2019 06;104(6):1907-1916

Department of Internal Medicine I, Division of Endocrinology, Diabetes and Metabolism, University Hospital Frankfurt, Frankfurt, Germany.

Context: Autoimmune endocrinopathies result from environmental triggers on the genetic background of risk alleles, especially HLA-DR and HLA-DQ with alanine (Ala) in HLA-DQB1 position 57 (Ala57), whereas amino acid Asp57 is protective.

Objectives: Differentiate the effects of HLA-DQB1 amino acid variants at position 57 in adult patients with isolated endocrinopathies and autoimmune polyglandular syndrome type 2 (APS-2) compared with healthy controls in relation to gender.

Setting: University Hospital Frankfurt, Frankfurt, Germany. Read More

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http://dx.doi.org/10.1210/jc.2018-01621DOI Listing
June 2019
10 Reads

Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Immunol Rev 2019 01;287(1):103-120

Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

The discovery of the autoimmune regulator (AIRE) protein and the delineation of its critical contributions in the establishment of central immune tolerance has significantly expanded our understanding of the immunological mechanisms that protect from the development of autoimmune disease. The parallel identification and characterization of patient cohorts with the monogenic disorder autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), which is typically caused by biallelic AIRE mutations, has underscored the critical contribution of AIRE in fungal immune surveillance at mucosal surfaces and in prevention of multiorgan autoimmunity in humans. In this review, we synthesize the current clinical, genetic, molecular and immunological knowledge derived from basic studies in Aire-deficient animals and from APECED patient cohorts. Read More

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http://dx.doi.org/10.1111/imr.12714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309421PMC
January 2019
7 Reads

[Endocrine complications in primary immunodeficiency diseases].

Authors:
Zita Halász

Orv Hetil 2018 Dec;159(49):2065-2072

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53., 1083.

Experimental and clinical data suggest a complex interaction between the endocrine and immune systems. However, only few epidemiological studies are available dealing with endocrine complications in different types of primary immunodeficiency diseases. It is well documented that there is a close association between immunodeficiency syndromes and the development of autoimmune disorders. Read More

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http://dx.doi.org/10.1556/650.2018.31122DOI Listing
December 2018
11 Reads

Sex Alters the MHC Class I HLA-A Association With Polyglandular Autoimmunity.

J Clin Endocrinol Metab 2019 05;104(5):1680-1686

Molecular Thyroid Research Laboratory, Johannes Gutenberg University Medical Center, Mainz, Germany.

Context: The major histocompatibility complex (MHC) strongly contributes to the development of polyglandular autoimmunity (PGA).

Objective: To evaluate the impact of sex on human leukocyte antigen (HLA) association with PGA for the first time.

Design: Cross-sectional immunogenetic study. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-01974DOI Listing
May 2019
19 Reads

Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.

Front Immunol 2018 19;9:2570. Epub 2018 Nov 19.

Department Parasitology-Mycology, CHU, Lille, France.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinoma (SCC), and may lead to death. The role of chronic infection in the etiopathogenesis of oral SCC is unclear. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02570
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http://dx.doi.org/10.3389/fimmu.2018.02570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254185PMC
October 2019
32 Reads

Long-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.

J Pediatr 2018 12;203:391-399.e1

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

Objective: To determine whether multiple daily injections of parathyroid hormone (PTH) 1-34 are safe and effective as long-term therapy for children with hypoparathyroidism.

Study Design: Linear growth, bone accrual, renal function, and mineral homeostasis were studied in a long-term observational study of PTH 1-34 injection therapy in 14 children.

Methods: Subjects were 14 children with hypoparathyroidism attributable to autoimmune polyglandular syndrome type 1 (N = 5, ages 7-12 years) or calcium receptor mutation (N = 9, ages 7-16 years). Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298875PMC
December 2018
55 Reads

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

Front Immunol 2018 1;9:2411. Epub 2018 Nov 1.

Seattle Children's Research Institute, University of Washington, Seattle, WA, United States.

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the gene. In addition, there has been an increasing number of patients with wild-type gene and, in some cases, mutations in other immune regulatory genes. To molecularly asses a cohort of 173 patients with the IPEX phenotype and to delineate the relationship between the clinical/immunologic phenotypes and the genotypes. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02411
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http://dx.doi.org/10.3389/fimmu.2018.02411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223101PMC
October 2019
30 Reads

Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy.

Dig Dis Sci 2019 03 10;64(3):643-654. Epub 2018 Nov 10.

Division of Pediatric Gastroenterology, Hepatology and Nutrition, Vanderbilt University Medical Center, 2100 Children's Way, Nashville, TN, 37212, USA.

Autoimmune enteropathy (AIE) is a complex disease affecting both children and adults. Although associated with significant morbidity and mortality, the pathophysiology of the disease and its treatment have not been well characterized. This study aims to review the medical literature available on this rare but clinically significant ailment, to help establish a better understanding of its pathophysiology and enumerate the available diagnostic and treatment modalities. Read More

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http://link.springer.com/10.1007/s10620-018-5364-1
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http://dx.doi.org/10.1007/s10620-018-5364-1DOI Listing
March 2019
33 Reads

Polyglandular endocrine emergency: lessons from a patient, which a book cannot teach.

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK.

A 30-year-old woman with polyglandular autoimmune type 2 syndrome was found collapsed at home with a cardiac arrest, which required direct current cardioversion. On admission, she was hypothermic, hypotensive and bradycardic. Initial biochemical investigations were consistent with a pre-renal acute kidney injury, metabolic acidosis and a possible sepsis. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22650
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http://dx.doi.org/10.1136/bcr-2018-226503DOI Listing
November 2018
57 Reads

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.

Clin Transl Gastroenterol 2018 11 2;9(10):201. Epub 2018 Nov 2.

Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

Objective: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune disease caused by mutations in the forkhead box protein 3 gene (FOXP3), which encodes a key regulator of immune tolerance. The aim of this study was to describe the clinical heterogeneity of the disease in a national French cohort.

Methods: Multicenter retrospective study of patients diagnosed with IPEX syndrome caused by mutations in FOXP3. Read More

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http://www.nature.com/articles/s41424-018-0064-x
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http://dx.doi.org/10.1038/s41424-018-0064-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6212456PMC
November 2018
11 Reads

Calcium-Sensing Receptor Autoantibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1: Epitopes, Specificity, Functional Affinity, IgG Subclass, and Effects on Receptor Activity.

J Immunol 2018 12 31;201(11):3175-3183. Epub 2018 Oct 31.

Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, United Kingdom;

A major manifestation of autoimmune polyendocrine syndrome type 1 (APS1) is hypoparathyroidism, which is suggested to result from aberrant immune responses against the parathyroid glands. The calcium-sensing receptor (CaSR), which plays a pivotal role in maintaining calcium homeostasis by sensing blood calcium levels and regulating release of parathyroid hormone (PTH), is an autoantibody target in APS1. In this study, the aim was to characterize the binding sites, specificity, functional affinity, IgG subclass, and functional effects of CaSR autoantibodies using phage-display technology, ELISA, and bioassays. Read More

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http://dx.doi.org/10.4049/jimmunol.1701527DOI Listing
December 2018
6 Reads

21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I.

Clin Exp Immunol 2019 03 14;195(3):364-368. Epub 2018 Nov 14.

Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Denmark.

Turner syndrome (TS) is associated with an increased frequency of autoimmunity. Frequently observed autoimmune diseases in TS are also seen in the autoimmune polyendocrine syndrome type I (APS I), of which Addison disease is a key component. An overlapping antibody profile between TS and APS I could be considered. Read More

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http://doi.wiley.com/10.1111/cei.13231
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http://dx.doi.org/10.1111/cei.13231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378376PMC
March 2019
6 Reads

Aggressive treatment in paediatric or young patients with drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is associated with future development of type III polyglandular autoimmune syndrome.

BMJ Case Rep 2018 Oct 27;2018. Epub 2018 Oct 27.

Department of Dermatology, Kawasaki Medical School, Kurashiki, Okayama, Japan.

We experienced a 6-year-old case of drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) with subsequent development autoimmune thyroiditis (Hashimoto's thyroiditis), type 1 diabetes with antithyroglobulin, thyroid peroxidase, insulinoma-associated antigen and anti-insulin antibodies at 4 months, alopecia at 7 months, vitiligo, uveitis due to Vogt-Koyanagi-Harada disease at 8 months after clinical resolution of the DiHS/DRESS. He was diagnosed as type III polyglandular autoimmune syndrome (PASIII) after DiHS/DRESS. Prompted by this case, we sought to determine which triggering factors were responsible for later development of PASIII in previously published cases with autoimmune sequelae. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22552
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http://dx.doi.org/10.1136/bcr-2018-225528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214396PMC
October 2018
22 Reads

Reduction of Total Brain and Cerebellum Volumes Associated With Neuronal Autoantibodies in Patients With APECED.

J Clin Endocrinol Metab 2019 01;104(1):150-162

NEF Laboratory, Department of Biomedical Sciences, University of Cagliari, Monserrato (CA), Italy.

Context: In autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoantibodies (AutoAbs) labeling brain neurons were reported; conversely, brain MRI alterations associated with these AutoAbs were never reported.

Objectives: To describe brain alterations in APECED and to correlate them with AutoAbs against glutamic acid decarboxylase (GAD), tyrosine hydroxylase (TH), and 5-tryptophan hydroxylase (5-HT) neurons.

Design And Participants: Fourteen Sardinian patients with APECED and age-matched control subjects were recruited for MRI analysis and blood sampling to detect AutoAbs to GAD, TH, and 5-HT neurons by using rat brain sections. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
Publisher Site
http://dx.doi.org/10.1210/jc.2018-01313DOI Listing
January 2019
9 Reads

The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers.

Clin Immunol 2018 12 1;197:231-238. Epub 2018 Oct 1.

Division of Endocrinology, Department of Medicine, Universidade Federal de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.

Autoimmune polyendocrine syndrome type 1 (APS1) is characterized by multiorgan autoimmunity. We aim at characterizing a multi-center Brazilian cohort of APS1 patients by clinical evaluation, searching mutation in the AIRE gene, measuring serum autoantibodies, and investigating correlations between findings. We recruited patients based on the clinical criteria and tested them for AIRE mutations, antibodies against interferon type I and interleukins 17A, 17F and 22. Read More

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http://dx.doi.org/10.1016/j.clim.2018.09.012DOI Listing
December 2018
11 Reads

The Role of Autoimmune Regulator (AIRE) in Peripheral Tolerance.

J Immunol Res 2018 4;2018:3930750. Epub 2018 Sep 4.

Department of Immunology, College of Basic Medical Sciences, Jilin University, Changchun 130021, China.

Autoimmune regulator (AIRE), whose gene mutation is considered to be a causative factor of autoimmune polyglandular syndrome type 1 (APS1), is an important transcriptional regulator. Studies on the role of AIRE in the central immune system have demonstrated that AIRE can eliminate autoreactive T cells by regulating the expression of a series of tissue specific antigens promiscuously in medullary thymic epithelial cells (mTECs) and induce regulatory T cell (Treg) production to maintain central immune tolerance. However, the related research of AIRE in peripheral tolerance is few. Read More

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http://dx.doi.org/10.1155/2018/3930750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142728PMC
December 2018
11 Reads

Implications for screening in the hypothyroid presentation of autoimmune polyglandular syndrome.

Authors:
Oscar M P Jolobe

Eur J Intern Med 2019 01 30;59:e23-e24. Epub 2018 Aug 30.

Manchester Medical Society, Simon Building, Brunswick Street, Manchester M13 9PL, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2018.08.016DOI Listing
January 2019
5 Reads