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    Autoimmune Polyendocrine Syndromes.
    N Engl J Med 2018 03;378(12):1132-1141
    From the Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen (E.S.H., O.K.), and the Department of Medicine, Haukeland University Hospital (E.S.H.), Bergen, Norway; the Department of Medicine (Solna), Karolinska Institutet, Stockholm (E.S.H., O.K.); and the Diabetes Center and the Department of Medicine, University of California, San Francisco, San Francisco (M.S.A.).
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    Twenty Years of AIRE.
    Front Immunol 2018 12;9:98. Epub 2018 Feb 12.
    Department of Pediatrics, Neonatal Intensive Care, Vito Fazzi Regional Hospital, Lecce, Italy.
    About two decades ago, cloning of the autoimmune regulator () gene materialized one of the most important actors on the scene of self-tolerance. Thymic transcription of genes encoding tissue-specific antigens (ts-ags) is activated by AIRE protein and embodies the essence of thymic self-representation. Pathogenic AIRE variants cause the autoimmune polyglandular syndrome type 1, which is a rare and complex disease that is gaining attention in research on autoimmunity. Read More
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    Concurrent variant type 3 autoimmune polyglandular syndrome and pulmonary arterial hypertension in a Japanese woman.
    Endocr J 2018 Feb 16. Epub 2018 Feb 16.
    Department of Endocrinology and Metabolism, Dokkyo Medical University, Mibu, Shimotsuga, Tochigi, Japan.
    We describe a very rare case of concurrent variant type 3 autoimmune polyglandular syndrome (APS) and pulmonary arterial hypertension (PAH). A previously healthy 65-year-old Japanese woman was referred to our university hospital with a 2-month history of general fatigue and hyperglycemia. Laboratory tests revealed severe hyperglycemia (plasma glucose 543 mg/dL and HbA1c 10. Read More
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    Association pernicious anemia and autoimmune polyendocrinopathy: a retrospective study.
    J Med Life 2017 Oct-Dec;10(4):250-253
    Département de Médecine Interne, CHRU Strasbourg, France.
    Objective: To investigate the association between pernicious anemia and other autoimmune diseases.

    Methods: This retrospective and bicentric study was conducted at Reims and Strasbourg University Hospitals and involved 188 patients with pernicious anemia examined between 2000 and 2010 in order to search for other autoimmune diseases and to evaluate the role of pernicious anemia in autoimmune polyglandular syndrome.

    Results: A total of 74 patients with a combination of pernicious anemia and other autoimmune diseases were included in the study. Read More
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    Latent autoimmune diabetes of adulthood: case report.
    Clin Diabetes Endocrinol 2017 28;3:11. Epub 2017 Nov 28.
    University of North Carolina (UNC) Family Medicine, 590 Manning Drive, CB#7595, Chapel Hill, NC 27514 USA.
    Background: Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families. Read More
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    The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1).
    Autoimmun Rev 2018 Jan 4;17(1):78-85. Epub 2017 Nov 4.
    Division of Rheumatology, Allergy and Clinical Immunology, School of Medicine, University of California, Davis, CA 95616, USA. Electronic address:
    Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. Read More
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    Cardiac tamponade in a patient with autoimmune polyglandular syndrome type 2.
    Endocrinol Diabetes Metab Case Rep 2017 13;2017. Epub 2017 Oct 13.
    1st Department of Cardiology, Hellenic Red Cross Hospital, Athens, Greece.
    We describe a case of a 40-year-old woman who was admitted to the intensive care unit with a rapid onset of dyspnea and orthopnea. She presented progressive weakness, weight loss and secondary amenorrhea during last year, while intermittent fever was present for the last two months. Initial biochemical evaluation showed anemia, hyponatremia and increased C-reactive protein levels. Read More
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    A rare case of polyglandular autoimmune syndrome type IIIc with primary antibody failure.
    Gynecol Endocrinol 2018 Apr 18;34(4):283-285. Epub 2017 Oct 18.
    b First Department of Obstetrics and Gynecology , Semmelweis University , Budapest , Hungary.
    Primary antibody deficiency syndromes are a rare group of disorders present at any age, with complex polygenic disorders. We report the forth case of polyglandular autoimmune syndrome (PAS) type IIIc worldwide with complex clinical features and no family history of endocrine disorders or primary immunodeficiencies. Our patient, a 44-year-old Caucasian female was diagnosed with PAS type IIIc due to the presence of autoimmune thyroiditis, autoimmune alopecia diffusa and primary ovarian insufficiency, associated with lymphoproliferative disease and primary antibody failure. Read More
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    Adrenal crisis and autoimmune polyglandular syndromes.
    Proc (Bayl Univ Med Cent) 2017 Oct;30(4):427-428
    Department of Internal Medicine (Freeland) and Division of Pulmonary and Critical Care Medicine (Tsai-Nguyen, Pan, Mora), Baylor University Medical Center at Dallas; and the Texas A&M Health Science Center College of Medicine (Lueking).
    We report a 67-year-old woman who presented with adrenal crisis as a manifestation of autoimmune polyglandular syndrome 2, a polygenic disorder characterized by concurrent primary adrenal insufficiency and either autoimmune thyroid disease or type 1 diabetes mellitus. Read More
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    A novel data-driven workflow combining literature and electronic health records to estimate comorbidities burden for a specific disease: a case study on autoimmune comorbidities in patients with celiac disease.
    BMC Med Inform Decis Mak 2017 Sep 29;17(1):140. Epub 2017 Sep 29.
    Georges Pompidou European Hospital (HEGP), AP-HP, Paris, France.
    Background: Data collected in EHRs have been widely used to identifying specific conditions; however there is still a need for methods to define comorbidities and sources to identify comorbidities burden. We propose an approach to assess comorbidities burden for a specific disease using the literature and EHR data sources in the case of autoimmune diseases in celiac disease (CD).

    Methods: We generated a restricted set of comorbidities using the literature (via the MeSH® co-occurrence file). Read More
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    Autoantibodies against the calcium-sensing receptor and cytokines in autoimmune polyglandular syndromes types 2, 3 and 4.
    Clin Endocrinol (Oxf) 2018 Jan 3;88(1):139-145. Epub 2017 Oct 3.
    Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
    Objective: The frequency of autoimmunity against the parathyroid glands in patients with polyglandular autoimmunity that is not due to autoimmune polyendocrine syndrome type 1 (APS1) is unclear. To investigate this, this study aimed to determine the prevalence of autoantibodies against parathyroid autoantigens, calcium-sensing receptor (CaSR) and NACHT leucine-rich-repeat protein 5 (NALP5), in a large group of patients with non-APS1 polyendocrine autoimmunity. Possible occult APS1 was investigated by cytokine autoantibody measurement and AIRE gene analysis. Read More
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    Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.
    J Clin Endocrinol Metab 2017 Sep;102(9):3546-3556
    Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
    Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare.

    Objective: To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort. Read More
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    Serum Thyroid Hormone Antibodies Are Frequent in Patients with Polyglandular Autoimmune Syndrome Type 3, Particularly in Those Who Require Thyroxine Treatment.
    Front Endocrinol (Lausanne) 2017 28;8:212. Epub 2017 Aug 28.
    Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
    Polyglandular autoimmune syndrome (PAS) type 3 consists of autoimmune thyroid disease (AITD) coexisting with ≥1 non-thyroidal autoimmune disease (NTAID) other than Addison's disease and hypoparathyroidism. We evaluated the prevalence and repertoire of thyroid hormones antibodies (THAb) in PAS-3 patients. Using a radioimmunoprecipation technique, we measured THAb (T3IgM, T3IgG, T4IgM, and T4IgG) in 107 PAS-3 patients and 88 controls (patients with AITD without any NTAID). Read More
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    Altered expression of circadian clock genes in polyglandular autoimmune syndrome type III.
    Endocrine 2018 Jan 7;59(1):109-119. Epub 2017 Sep 7.
    Department of Biological Chemistry, School of Medicine, National and Kapodistrian University of Athens, Athens, 11527, Greece.
    Purpose: Circadian timing system is a highly conserved, ubiquitous molecular "clock" which creates internal circadian rhythmicity. Dysregulation of clock genes expression is associated with various diseases including immune dysregulation. In this study we investigated the circadian pattern of Clock-related genes in patients with polyglandular autoimmune syndrome type III (PAS type III). Read More
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    Polyglandular autoimmune syndromes.
    J Endocrinol Invest 2018 Jan 17;41(1):91-98. Epub 2017 Aug 17.
    Department of Medicine I, Johannes Gutenberg University Medical Center, 55101, Mainz, Germany.
    Background: In recent years, scientific knowledge pertaining to the rare ORPHAN polyglandular autoimmune syndrome (registered code ORPHA 282196) has accumulated.

    Objective: To offer current demographic, clinical, serological and immunogenic data on PAS.

    Methods: Review of the pertinent and current literature. Read More
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    Epidemiological and clinical peculiarities of polyglandular syndrome type 3 in pediatric age.
    Ital J Pediatr 2017 Aug 7;43(1):69. Epub 2017 Aug 7.
    UOC Pediatria, Department of Human Pathology in Adulthood and Childhood, University of Messina, via Consolare Valeria, 98125, Messina, Italy.
    Background: Although the autoimmune polyglandular syndrome type 3 (APS-3) is the commonest APS that may be encountered in pediatric age, last year literature includes only few studies aiming to specifically ascertain the clinical spectrum of APS-3 in childhood and adolescence. Aims of these study were: a) to ascertain how many young patients with apparently isolated Hashimoto's thyroiditis (HT) are at risk of manifesting other autoimmune disorders (ADs) compatible with APS-3; b) to individuate the ADs which most frequently segregate with HT in the context of an APS-3.

    Methods: A selected population of 211 young patients with HT and no risk factors for other APSs was investigated, in order to evaluate the prevalence of other ADs apart from HT and to individuate the ADs which most frequently cluster with HT in the context of APS-3. Read More
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    Celiac Disease and Other Causes of Duodenitis.
    Arch Pathol Lab Med 2018 Jan 31;142(1):35-43. Epub 2017 Jul 31.
    From the Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.
    Context: - Patients who receive an upper gastrointestinal endoscopic examination frequently have biopsies taken from the duodenum. Accurate interpretation of duodenal biopsies is essential for patient care. Celiac disease is a common clinical concern, but pathologists need to be aware of other conditions of the duodenum that mimic celiac disease. Read More
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    Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment.
    Scand J Immunol 2017 Oct;86(4):221-228
    Department of Bacteriology and Immunology, University of Helsinki, Helsinki, Finland.
    Mutations in the autoimmune regulator gene disrupt thymic T cell development and negative selection, leading to the recessively inherited polyendocrine autoimmune disease autoimmune polyendocrine syndrome type 1 (APS-1). The patients also have a functional defect in the FOXP3 regulatory T cell population, but its origin is unclear. Here, we have used T cell receptor sequencing to analyse the clonal relationship of major CD4 T cell subsets in three patients and three healthy controls. Read More
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    [Oral diseases in auto-immune polyendocrine syndrome type 1].
    Presse Med 2017 Sep 3;46(9):853-863. Epub 2017 Jul 3.
    Polyclinique Aguilera, 21, rue de l'Estagnas, 64200 Biarritz, France.
    Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. Read More
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    A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
    Immunogenetics 2017 10 24;69(10):643-651. Epub 2017 May 24.
    Department of Endocrinology, China Three Gorges University & Yichang Central People's Hospital, Yi Ling Road 181, Yichang, 443003, China.
    Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. Read More
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    Hashimoto's Thyroiditis and Autoimmune Gastritis.
    Front Endocrinol (Lausanne) 2017 26;8:92. Epub 2017 Apr 26.
    Endocrinology Unit, Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University, Latina, Italy.
    The term "thyrogastric syndrome" defines the association between autoimmune thyroid disease and chronic autoimmune gastritis (CAG), and it was first described in the early 1960s. More recently, this association has been included in polyglandular autoimmune syndrome type IIIb, in which autoimmune thyroiditis represents the pivotal disorder. Hashimoto's thyroiditis (HT) is the most frequent autoimmune disease, and it has been reported to be associated with gastric disorders in 10-40% of patients while about 40% of patients with autoimmune gastritis also present HT. Read More
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    A Case of Autoimmune Polyglandular Syndrome .ype 2 Associated with Atypical Form of Scleromyxedema.
    Ethiop J Health Sci 2016 Sep;26(5):503-507
    Department of Clinical Immunology, Allergology and Endocrinology, Donetsk National Medical University, Ukraine.
    Background: Autoimmune polyglandular syndrome type 2 represents an uncommon endocrine disorder composed by Addison's disease with autoimmune thyroid disease (Schmidt's syndrome) and/or type 1 diabetes mellitus. Scleromyxedema is a rare progressive cutaneous mucinosis usually associated with systemic involvement and paraproteinemia. To the best of our knowledge, there is no case report of Schmidt's syndrome associated with scleromyxedema. Read More
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    A case of autoimmune polyendocrine syndrome type I with strong positive GAD antibody titer, followed up with glucose tolerance measured by oral glucose tolerance test.
    Neuro Endocrinol Lett 2017 Jan;37(8):540-542
    Department of Internal Medicine, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
    A 26-year-old Japanese woman presented with adrenal insufficiency, and treatment was started with cortisone and fludrocortisone in 1975. A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I), and treatment with calcium and alfacalcidol was started. She was found to have subacute thyroiditis and relative adrenal failure in 2006. Read More
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    Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.
    J Clin Endocrinol Metab 2017 May;102(5):1726-1733
    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.
    Context: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH.

    Objective: The objective of this study was to identify the underlying genetic basis for isolated HYPO in a kindred in which 3 of 10 siblings were affected.

    Subjects: We studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of life. Read More
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    [Endocrinology and interdisciplinary consultation in internal medicine : Illustrated using the example of polyglandular autoimmune syndrome].
    Internist (Berl) 2017 Apr;58(4):308-328
    MVZ für Rheumatologie, Planegg, Deutschland.
    Polyglandular autoimmune syndromes encompass several endocrine and nonendocrine autoimmune disorders with variable onset and phenotype. Rheumatoid and gastroenterological symptoms in patients with autoimmune polyglandular syndromes are suggestive of additional rheumatoid gastrointestinal and hepatological autoimmune diseases. Autoimmune gastritis, celiac disease, autoimmune hepatitis, rheumatoid arthritis, Sjögren syndrome, and systemic Lupus erythematodus are of particular clinical relevance. Read More
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    Assessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay.
    Clin Chem Lab Med 2017 Jun;55(7):1003-1012
    .
    Background: Measurements of autoantibodies to interferon-ω (IFN-ω) in patients with autoimmune polyglandular syndrome type 1 (APS-1) were performed using a new immunoprecipitation assay (IPA) based on 125I-labeled IFN-ω.

    Methods: We have developed and validated a new IPA based on 125I-labeled IFN-ω. Sera from 78 patients (aged 3-78 years) with clinically diagnosed APS-1, 35 first degree relatives, 323 patients with other adrenal or non-adrenal autoimmune diseases and 84 healthy blood donors were used in the study. Read More
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    Short-Term PTH(1-34) Therapy in Children to Correct Severe Hypocalcemia and Hyperphosphatemia due to Hypoparathyroidism: Two Case Studies.
    Case Rep Endocrinol 2016 13;2016:6838626. Epub 2016 Nov 13.
    Pediatric Endocrinology, University of Minnesota, Minneapolis, MN, USA.
    The standard treatment of hypoparathyroidism is to control hypocalcemia using calcitriol and calcium supplementation. However, in severe cases this approach is insufficient, and the risks of intravenous (i.v. Read More
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    Polyglandular Autoimmune Syndrome in pregnancy: case report.
    Ital J Gynaecol Obstet 2016 Sep;28(4):35-40
    Division of Gynecology and Obstetrics, Maternal and Child Department, Cannizzaro Hospital, Catania, Italy.
    Type III Polyglandular Autoimmune Syndrome is a multiple endocrine disorders disease determined by autoimmunity; it can be diagnosed if a patient is affected by Type 1 Diabetes Mellitus and another autoimmune disease, except Addison Disease, for example Autoimmune Hashimoto Thyroiditis or Celiac Disease. R.D. Read More
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    Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features.
    Clin Exp Dermatol 2017 Jan 13;42(1):61-63. Epub 2016 Nov 13.
    Department of Medicine and Aging Science, Dermatologic Clinic, University G. d'Annunzio, Chieti, Italy.
    Polyglandular autoimmune syndrome (PAS) is the name given to a group of autoimmune disorders of the endocrine glands. PAS type III (PAS III) comprises several autoimmune diseases (autoimmune thyroiditis, immune-mediated diabetes mellitus, pernicious anaemia, vitiligo, alopecia areata and many others) and is subdivided into four subcategories. We report the case of a 52-year-old woman with autoimmune thyroiditis, vitiligo, alopecia areata, psoriasis and lichen sclerosus, suggesting a clinical diagnosis of PAS IIIC with a singular prevalence of cutaneous features. Read More
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    Association of newly diagnosed type 1 diabetes and autoimmune pancreatitis.
    Endocrinol Diabetes Metab Case Rep 2016 6;2016. Epub 2016 Oct 6.
    Department of Endocrinology , Diabetology and Metabolic Diseases, Mohammed VI University Hospital of Marrakech, Caddi Ayyad University, Marrakech , Morocco.
    Autoimmune pancreatitis is a new nosological entity in which a lymphocytic infiltration of the exocrine pancreas is involved. The concomitant onset of autoimmune pancreatitis and type 1 diabetes has been recently described suggesting a unique immune disturbance that compromises the pancreatic endocrine and exocrine functions. We report a case of type1 diabetes onset associated with an autoimmune pancreatitis in a young patient who seemed to present a type 2 autoimmune polyglandular syndrome. Read More
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    Aire Inhibits the Generation of a Perinatal Population of Interleukin-17A-Producing γδ T Cells to Promote Immunologic Tolerance.
    Immunity 2016 11;45(5):999-1012
    Division of Immunology, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:
    Aire's primary mechanism of action is to regulate transcription of a battery of genes in medullary thymic epithelial cells (mTECs) and, consequently, negative selection of effector T cells and positive selection of regulatory T cells. We found that Aire-deficient mice had expanded thymic and peripheral populations of perinatally generated IL-17AVγ6Vδ1 T cells, considered to be "early responders" to tissue stress and drivers of inflammatory reactions. Aire-dependent control of Il7 expression in mTECs regulated the size of thymic IL-17AVγ6Vδ1 compartments. Read More
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    A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans.
    J Clin Endocrinol Metab 2016 Nov 28;101(11):3865-3869. Epub 2016 Sep 28.
    Institute of Genetic Medicine (A.P., C.M.N., H.F.A., H.J.C., S.H.S.P., A.L.M.), Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom; Department of Clinical Science (B.E.O., E.S.H.), University of Bergen, 5021 Bergen, Norway; and Department of Medicine (E.S.H.), Haukeland University Hospital, 5021 Bergen, Norway.
    Context: Autoimmune Addison's disease (AAD) is a rare but highly heritable condition. The BACH2 protein plays a crucial role in T lymphocyte maturation, and allelic variation in its gene has been associated with a number of autoimmune conditions.

    Objective: We aimed to determine whether alleles of the rs3757247 single nucleotide polymorphism (SNP) in the BACH2 gene are associated with AAD. Read More
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    Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt.
    Arch Immunol Ther Exp (Warsz) 2016 Dec 12;64(6):485-495. Epub 2016 Mar 12.
    Chair and Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland.
    The role of autoimmunization in the pathogenesis of pituitary disorders is poorly understood. The presence of pituitary autoantibodies (APA) has been detected in various pituitary disorders. Their role, however, remains elusive. Read More
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    Anticytokine autoantibodies in infection and inflammation: an update.
    Curr Opin Allergy Clin Immunol 2016 Dec;16(6):523-529
    aLaboratorio 2 Inmunología, FES-Cuautitlán, UNAM, Mexico bService d' Allergologie et d'Immunologie, Hôpitaux Universitaires de Genève, Switzerland cDepartment of Clinical Biochemistry and Immunology, Addenbrookes Hospital dNational Institute of Health Research (NIHR), Cambridge Biomedical Reserch Centre, Cambridge, UK.
    Purpose Of Review: Concise overview of the field of anticytokine autoantibodies with a focus on recent developments.

    Recent Findings: Advances in particular in the analysis of autoantibodies to IFNγ, granulocyte-macrophage colony-stimulating factor (GM-CSF) and type I IFN are presented. The target epitope for anti-IFNγ autoantibodies has been found to have high homology to a protein from Aspergillus suggesting molecular mimicry as a mechanism of breaking self-tolerance. Read More
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    Delayed diagnosis with autoimmune polyglandular syndrome type 2 causing acute adrenal crisis: A case report.
    Medicine (Baltimore) 2016 Oct;95(42):e5062
    Key laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
    Background: Autoimmune polyglandular syndrome type 2 (APS-2), also known as Schmidt's syndrome, is an uncommon disorder characterized by the coexistence of Addison's disease with thyroid autoimmune disease and/or type 1 diabetes mellitus. Addison's disease as the obligatory component is potentially life-threatening. Unfortunately, the delayed diagnosis of Addison's disease is common owing to its rarity and the nonspecific clinical manifestation. Read More
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    Ocular manifestations of autoimmune polyendocrinopathy syndrome type 1.
    Curr Opin Ophthalmol 2016 Nov;27(6):505-513
    aDepartment of Ophthalmology, Hôpital Lariboisière, AP-HP, Université Paris 7 - Sorbonne Paris Cité bDepartment of Ophthalmology, Hôpital Cochin, AP-HP, Université Paris 5 - Paris Descartes, Paris, France.
    Purpose Of Review: The ocular manifestations in autoimmune polyendocrinopathy syndrome type 1 (APS1) are frequent and have a poor prognosis. The phenotype of these APS1-associated ocular features have been recently characterized in molecularly confirmed patients with APS1.

    Recent Findings: Keratopathy and retinopathy can be severe manifestations of APS1. Read More
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    [Psycho-immuno-endocrinology of the thyroid gland].
    Vnitr Lek Fall 2016;62(9 Suppl 3):107-114
    Historically endocrinologists and psychiatrists are aware that disturbances in thyroid disease in beginning or even in clinically intensified states of thyrotoxicosis or hypothyroidism exhibit pathological mental manifestations, masking or potentiating the underlying disease. Immune system disorders cause thyroid organ-specific autoimmune process. This autoimmune thyroid disease binds with a number of disorders in both endocrine or non-endocrine organs. Read More
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    Flexible peptide recognition by HLA-DR triggers specific autoimmune T-cell responses in autoimmune thyroiditis and diabetes.
    J Autoimmun 2017 Jan 23;76:1-9. Epub 2016 Sep 23.
    Department of Medicine, Albert Einstein College of Medicine, Bronx, NY 10461, USA. Electronic address:
    Autoimmune polyglandular syndrome 3 variant (APS3v) refers to the co-occurrence of autoimmune thyroiditis (AITD) and type 1 diabetes (T1D) within the same individual. HLA class II confers the strongest susceptibility to APS3v. We previously identified a unique amino acid signature of the HLA-DR pocket (designated APS3v HLA-DR pocket) that predisposes to APS3v. Read More
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    Addison Disease and Discoid Lupus Erythematosus: A Rare Association of Polyglandular Autoimmune Syndrome Type II.
    J Clin Rheumatol 2016 Oct;22(7):382-3
    From the *Corporal Michael J. Crescenz Medical Center; †Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania; and ‡Department of Dermatology, Thomas Jefferson University Sidney Kimmel School of Medicine, Philadelphia, PA.
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    Altered B cell homeostasis and Toll-like receptor 9-driven response in patients affected by autoimmune polyglandular syndrome Type 1: Altered B cell phenotype and dysregulation of the B cell function in APECED patients.
    Immunobiology 2017 02 9;222(2):372-383. Epub 2016 Sep 9.
    Immuno-Infectivology and Clinical Trials Research Area, Children's Hospital Bambino Gesù, Rome, Italy. Electronic address:
    APECED is a T-cell mediated disease with increased frequencies of CD8+ effector and reduction of FoxP3+ T regulatory cells. Antibodies against affected organs and neutralizing to cytokines are found in the peripheral blood. The contribution of B cells to multiorgan autoimmunity in Aire-/- mice was reported opening perspectives on the utility of anti-B cell therapy. Read More
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    Effect of Associated Autoimmune Diseases on Type 1 Diabetes Mellitus Incidence and Metabolic Control in Children and Adolescents.
    Biomed Res Int 2016 20;2016:6219730. Epub 2016 Jul 20.
    Department of Pediatric Endocrinology and Diabetology, Medical University of Lublin, 6 Professor A. Gebali Street, 20-093 Lublin, Poland.
    Type 1 diabetes mellitus (T1DM) is one of the most common chronic diseases developing in childhood. The incidence of the disease in children increases for unknown reasons at a rate from 3 to 5% every year worldwide. The background of T1DM is associated with the autoimmune process of pancreatic beta cell destruction, which leads to absolute insulin deficiency and organ damage. Read More
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    AIRE-mutations and autoimmune disease.
    Curr Opin Immunol 2016 Dec 6;43:8-15. Epub 2016 Aug 6.
    Department of Clinical Science, University of Bergen, 5021 Bergen, Norway; Department of Medicine, Haukeland University Hospital, 5021 Bergen, Norway. Electronic address:
    The gene causing the severe organ-specific autoimmune disease autoimmune polyendocrine syndrome type-1 (APS-1) was identified in 1997 and named autoimmune regulator (AIRE). AIRE plays a key role in shaping central immunological tolerance by facilitating negative selection of T cells in the thymus, building the thymic microarchitecture, and inducing a specific subset of regulatory T cells. So far, about 100 mutations have been identified. Read More
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    Polyglandular endocrinopathy type II (Schmidt's syndrome) in a Dobermann pinscher.
    J Small Anim Pract 2016 Sep 3;57(9):491-4. Epub 2016 Aug 3.
    School of Veterinary Medicine and Science, University of Nottingham, Leicestershire NG7 2RD.
    A three-year-old, female neutered, Dobermann pinscher was presented for investigation of lethargy, episodic collapse, ataxia and myxoedema. Primary hypothyroidism and primary cortisol-deficient hypoadrenocorticism were diagnosed based on history, physical examination and compatible hormonal analysis. Increased serum concentrations of thyroglobulin autoantibodies and 21-hydroxylase autoantibodies indicated an immune-mediated aetiology. Read More
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    Association Studies of the GPR103 and BCL2L15 Genes in Autoimmune Thyroid Disease in the Japanese Population.
    Front Endocrinol (Lausanne) 2016 19;7:92. Epub 2016 Jul 19.
    Department of Pharmacogenomics, Showa University School of Pharmacy , Tokyo , Japan.
    While the past genome-wide association study (GWAS) for autoimmune thyroid diseases (AITDs) was done in Caucasians, a recent GWAS in Caucasian patients with both AITD and type 1 diabetes [a variant of autoimmune polyglandular syndrome type 3 (APS3v)] identified five non-HLA genes: BCL2L15, MAGI3, PHTF1, PTPN22, and GPR103. The aim of our study was to replicate these associations with AITD in a Japanese population. Since analyzing the rs2476601 single-nucleotide polymorphism (SNP) within the PTPN22 gene revealed no polymorphism in the Japanese, we analyzed four SNPs, rs2358994 (in BCL2L15), rs2153977 (in MAGI3), rs1111695 (in PHTF1), and rs7679475 (in GPR103) genotypes in a case-control study based on 447 Japanese AITD patients [277 Graves' disease (GD) and 170 Hashimoto's thyroiditis (HT) patients] and 225 matched Japanese controls using the high-resolution melting and unlabeled probe methods. Read More
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    Deep vein thrombosis, an unreported first manifestation of polyglandular autoimmune syndrome type III.
    Endocrinol Diabetes Metab Case Rep 2016 28;2016. Epub 2016 Jul 28.
    Walter Reed National Military Medical Center , Bethesda, Maryland , USA.
    Unlabelled: A 71-year-old woman with severe right lower leg pain, edema and erythema was presented to the Emergency Department and was found to have an extensive deep vein thrombosis (DVT) confirmed by ultrasound. She underwent an extensive evaluation due to her prior history of malignancy and new hypercoagulable state, but no evidence of recurrent disease was detected. Further investigation revealed pernicious anemia (PA), confirmed by the presence of a macrocytic anemia (MCV=115. Read More
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    Schimidt Syndrome: An Unusual Cause of Hypercalcaemia.
    J Clin Diagn Res 2016 May 1;10(5):OD21-2. Epub 2016 May 1.
    Assistant Professor, Department of Intensive Care, Christian Medical College and Hospital , Vellore, Tamil Nadu, India .
    Autoimmune polyglandular syndrome type 2 also known as Schmidt syndrome. It is a rare disorder involving a combination of Addison's disease with autoimmune thyroid disease with or without type 1 diabetes mellitus. In this case report one such patient with this rare syndrome is described who presented with hyperpigmentation of knuckles, palms and soles with significant weight loss for 2 months. Read More
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    Celiac Disease Autoimmunity in Patients with Autoimmune Diabetes and Thyroid Disease among Chinese Population.
    PLoS One 2016 18;11(7):e0157510. Epub 2016 Jul 18.
    Department of Endocrinology, The Second Hospital of Jilin University, Changchun, Jilin, China.
    The prevalence of celiac disease autoimmunity or tissue transglutaminase autoantibodies (TGA) amongst patients with type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) in the Chinese population remains unknown. This study examined the rate of celiac disease autoimmunity amongst patients with T1D and AITD in the Chinese population. The study included 178 patients with type 1 diabetes and 119 with AITD where 36 had both T1D and AITD, classified as autoimmune polyglandular syndrome type 3 variant (APS3v). Read More
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    AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies.
    Cell 2016 Jul 14;166(3):582-595. Epub 2016 Jul 14.
    Peter Gorer Department of Immunobiology, King's College, London SE19RT, UK. Electronic address:
    APS1/APECED patients are defined by defects in the autoimmune regulator (AIRE) that mediates central T cell tolerance to many self-antigens. AIRE deficiency also affects B cell tolerance, but this is incompletely understood. Here we show that most APS1/APECED patients displayed B cell autoreactivity toward unique sets of approximately 100 self-proteins. Read More
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