Search our Database of Scientific Publications and Authors

I’m looking for a

    861 results match your criteria Polyglandular Autoimmune Syndrome Type I

    1 OF 18

    Exome sequencing reveals mutations in AIRE as a cause of isolated hypoparathyroidism.
    J Clin Endocrinol Metab 2017 Feb 21. Epub 2017 Feb 21.
    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
    Context: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH.

    Objective: To identify the underlying genetic basis for isolated HYPO in a kindred in which three of ten 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

    [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

    Assessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay.
    Clin Chem Lab Med 2017 Jan 18. Epub 2017 Jan 18.
    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    [Psycho-immuno-endocrinology of the thyroid gland].
    Vnitr Lek 2016 ;62(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

    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

    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.

    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 Feb 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

    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

    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

    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

    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

    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

    AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies.
    Cell 2016 Jul 14;166(3):582-95. 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

    Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A "Rare" Manifestation in a "Rare" Disease.
    Int J Mol Sci 2016 Jul 12;17(7). Epub 2016 Jul 12.
    Infectivology and Clinical Trials Area, Children's Hospital Bambino Gesù, Rome 00146, Italy.
    Type 1 autoimmune polyglandular syndrome (APS1) is a rare autosomal recessive disease, caused by mutations in the autoimmune regulator gene (AIRE); the encoded Aire protein plays an important role in the establishment of the immunological tolerance acting as a transcriptional regulator of the expression of organ-specific antigens within the thymus in perinatal age. While a high prevalence for this rare syndrome is reported in Finland and Scandinavia (Norway), autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) cohorts of patients are also detected in continental Italy and Sardinia, among Iranian Jews, as well as in other countries. The syndrome is diagnosed when patients present at least two out of the three fundamental disorders including chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Read More

    Rare case of nephrocalcinosis in a 14-year-old girl: Questions.
    Pediatr Nephrol 2017 Apr 6;32(4):607-608. Epub 2016 Jul 6.
    Chair and Clinical Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.
    A 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. Coexistence of hypoparathyroidism, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto's disease was strongly suggestive for autoimmune polyglandular syndrome (APS) type I. One of the clinical implications of this diagnosis is the high probability of future occurrence of adrenal insufficiency and hence the importance of maintaining a high level of suspicion in case of the onset of symptoms like weakness, fainting, hypotonia, or hyperkaliemia. Read More

    Clinical course and therapeutic approach to varicella zoster virus infection in children with rheumatic autoimmune diseases under immunosuppression.
    Pediatr Rheumatol Online J 2016 Jun 2;14(1):34. Epub 2016 Jun 2.
    Pediatric Rheumatology, University of Basel Children's Hospital, Spitalstrasse 33, CH - 4031, Basel, Switzerland.
    Background: To analyze the clinical presentation and complications of varicella zoster virus (VZV) infection in children with rheumatic diseases treated with immunosuppressive medication such as biological disease-modifying antirheumatic drugs (bDMARDs) and/or conventional disease-modifying antirheumatic drugs (cDMARDs), and to analyze the therapeutic approach to VZV infections with respect to the concomitant immunosuppressive treatment.

    Methods: Retrospective multicenter study using the Swiss Pediatric Rheumatology registry. Children with rheumatic diseases followed in a Swiss center for pediatric rheumatology and treated with cDMARD and/or bDMARD with a clinical diagnosis of varicella or herpes zoster between January 2004 and December 2013 were included. Read More

    Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI).
    Eur J Obstet Gynecol Reprod Biol 2016 Aug 20;203:61-5. Epub 2016 May 20.
    Department of Gyneacological Endocrinology, Medical University of Warsaw, Ul. Karowa 2, 00-315 Warsaw, Poland.
    Objectives: Autoimmune polyglandular syndrome type 3 - (APS-3), is defined as the coexistence of autoimmune thyroiditis with other non-ovarian autoimmune diseases without primary adrenal insufficiency. Additionally the definition of APS-3 also includes primary ovarian insufficiency (POI) coexistence with autoimmune thyroiditis. The main goal of that study is to assess the prevalence of APS-3 defined as coexistence of autoimmune thyroiditis with POI in population of 46 XX karyotype women with primary ovarian insufficiency (POI). Read More

     An autoimmune polyglandular syndrome complicated with celiac disease and autoimmune hepatitis.
    Ann Hepatol 2016 Jul-Aug;15(4):588-91
    Servicio de Aparato Digestivo. Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
     Autoimmune polyglandular syndrome (APS) is a combination of different autoimmune diseases. The close relationship between immune-mediated disorders makes it mandatory to perform serological screening periodically in order to avoid delayed diagnosis of additional autoimmune diseases. We studied a patient with type 1 diabetes (T1D) who later developed an autoimmune thyroid disease (ATD) and was referred to our hospital with a serious condition of his clinical status. Read More

    [Autoimmune polyglandular syndromes - literature review and analysis of clinical course in chosen cases].
    Wiad Lek 2016 ;69(1):27-32
    Katedra i Klinika Reumatologii i Układowych Chorób Tkanki Łącznej, Uniwersytet Medyczny, Lublin.
    Autoimmune polyglandular syndromes (APS) are the conditions characterized by coexistence of at least two organ-specific endocrine autoimmune disorders. The syndromes often coexist with connective tissue diseases with the presence non-organ specific antibodies. The aim of the study was to present two clinical cases of polymyositis and dermatomyositis in the course of APS type 3d. Read More

    Autoimmune polyglandular syndrome type I can have significant kidney disease in children including recurrence in renal allograft - a report of two cases.
    Clin Nephrol 2016 Jun;85(6):358-62
    Background: Autoimmune polyglandular syndrome type 1 (APS 1) is an autosomal recessive disorder characterized by immune injury of multiple organ systems (primarily endocrine) secondary to a mutation in the autoimmune regulator (AIRE) gene. In some cases, patients develop tubulointerstitial nephritis (TIN) and progress to end-stage renal failure (ESRD).

    Case Diagnosis/treatment: We describe two patients with APS 1 and TIN. Read More

    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.
    J Pediatr Endocrinol Metab 2016 Aug;29(8):979-83
    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (AIRE) gene. It is distinguished by an immune-mediated damage of endocrine tissues, chronic candidiasis, and ectodermal disorder. APECED has been shown to be frequent in some populations including Iranian Jews. Read More

    [Polyglandular autoimmune syndromes : An overview].
    Pathologe 2016 May;37(3):253-7
    Institut für Pathologie, Stadtspital Triemli, Birmensdorferstrasse 497, 8063, Zürich, Schweiz.
    Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune diseases of non-endocrine organs may also be found. Early diagnosis of PGAS is often overlooked because of heterogeneous symptoms and the progressive occurrence of the individual diseases. Read More

    Autoimmune regulator and self-tolerance - molecular and clinical aspects.
    Immunol Rev 2016 May;271(1):127-40
    Department of Clinical Science, University of Bergen, Bergen, Norway.
    The establishment of central tolerance in the thymus is critical for avoiding deleterious autoimmune diseases. Autoimmune regulator (AIRE), the causative gene in autoimmune polyendocrine syndrome type-1 (APS-1), is crucial for the establishment of self-tolerance in the thymus by promoting promiscuous expression of a wide array of tissue-restricted self-antigens. This step is critical for elimination of high-affinity self-reactive T cells from the immunological repertoire, and for the induction of a specific subset of Foxp3(+) T-regulatory (Treg ) cells. Read More

    Acta Clin Croat 2015 Dec;54(4):525-30
    Autoimmune polyglandular syndrome by definition consists of two or more endocrinological insufficiencies or two organ specific autoimmune diseases. There are no stringent criteria for endocrinological evaluation of patients with one endocrine insufficiency. However, detailed endocrinological evaluation should be undertaken in patients with two autoimmune diseases. Read More

    AIRE expands: new roles in immune tolerance and beyond.
    Nat Rev Immunol 2016 Apr 14;16(4):247-58. Epub 2016 Mar 14.
    Departments of Pediatrics and of Microbiology/Immunology, School of Medicine, and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
    More than 15 years ago, mutations in the autoimmune regulator (AIRE) gene were identified as the cause of autoimmune polyglandular syndrome type 1 (APS1). It is now clear that this transcription factor has a crucial role in promoting self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery. In this Review, we highlight many of the recent advances in our understanding of the complex biology that is related to AIRE, with a particular focus on advances in genetics, molecular interactions and the effect of AIRE on thymic selection of regulatory T cells. Read More

    Anticommensal Responses Are Associated with Regulatory T Cell Defect in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients.
    J Immunol 2016 Apr 22;196(7):2955-64. Epub 2016 Feb 22.
    Department of Bacteriology and Immunology, University of Helsinki, 00290 Helsinki, Finland; Research Programs Unit, Immunobiology Research Program, University of Helsinki, 00014 Helsinki, Finland;
    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease caused by mutations in the AIRE gene. Although mainly an endocrine disease, a substantial fraction of patients have gastrointestinal manifestations. In this study, we have examined the role of anticommensal responses and their regulation. Read More

    [Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type I in a family: a report of one case].
    Zhongguo Dang Dai Er Ke Za Zhi 2016 Feb;18(2):147-51
    Department of Endocrinology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
    The clinical data of one patient with autoimmune polyendocrinopathy syndrome type I were collected. PCR-DNA direct bidirectional sequencing was applied for mutation screening of 14 exons in autoimmune regulator (AIRE) gene in the patient and her parents. A total of 50 unrelated healthy controls were selected and tested. Read More

    Addison's disease with polyglandular autoimmunity carries a more than 2·5-fold risk for adrenal crises: German Health insurance data 2010-2013.
    Clin Endocrinol (Oxf) 2016 Sep 10;85(3):347-53. Epub 2016 Mar 10.
    WINEG, Scientific Institute of the TK for Benefit and Efficiency in Health Care, Hamburg, Germany.
    Objective: Adrenal crises are potentially life-threatening complications in patients with adrenal insufficiency (AI). Our objective was to investigate the frequency of adrenal crises in different forms of AI.

    Design/patients: The Statutory Health Insurance (SHI) database of the Techniker Krankenkasse - covering more than 12% of the German population - was analysed for diagnostic codes from 1 January 2010 to 31 December 2013. Read More

    Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1.
    J Clin Endocrinol Metab 2016 Apr 18;101(4):1344-7. Epub 2016 Feb 18.
    Endocrinology Department (E.S.), IM Sechenov First Moscow State Medical University, 119991 Moscow, Russia; Outpatient Clinic (E.F.), Gastroenterology Department (D.R., S.P.), and Healthy and Sick Child Nutrition Department (E.R.), Scientific Center for Children's Health, 119991 Moscow, Russia; Department and Laboratory of Inherited Endocrine Disorders (E.V., V.P., A.T.), Endocrinology Research Centre, 117036 Moscow, Russia; and Laboratory of Molecular Endocrinology of Medical Scientific Educational Centre of Lomonosov (A.T.), Moscow State University, 119991 Moscow, Russia.
    We describe APS1 in a boy with generalized lipodystrophy, oral candidiasis, autoimmune hepatitis and adrenal insufficiency. It is the first time when generalized lipodystrophy is associated with APS1. Read More

    Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.
    Sci Rep 2016 Feb 1;6:20104. Epub 2016 Feb 1.
    Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Sweden.
    Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features multiple autoimmune disease manifestations. It is caused by mutations in the Autoimmune regulator (AIRE) gene, which promote thymic display of thousands of peripheral tissue antigens in a process critical for establishing central immune tolerance. We here used proteome arrays to perform a comprehensive study of autoimmune targets in APS1. Read More

    Latent polyglandular autoimmune syndrome type 2 case diagnosed during a shock manifestation.
    Gynecol Endocrinol 2016 Jul 25;32(7):521-3. Epub 2016 Jan 25.
    d Department of Nuclear Medicine , Hatay Antakya State Hospital , Hatay , Turkey.
    There are many types of polyglandular autoimmune syndrome (PAS). PAS type 2 is the most common type among adults. For PAS type 2 (PAS-2) diagnosis, detection of Addison's disease with autoimmune thyroid disease and/or type 1 diabetes mellitus are required. Read More

    Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil.
    Genet Mol Res 2015 Dec 28;14(4):18936-44. Epub 2015 Dec 28.
    Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
    Type 1 diabetes mellitus (T1D) is a complex disorder characterized by an autoimmune response against human pancreatic beta-cells. Patients with T1D can also develop a response toward one or more other factors, such as in autoimmune thyroiditis (AITD) and celiac disease (CD). In the presence of T1D + AITD, the patient is diagnosed with autoimmune polyglandular syndrome type III (APSIII); patients with APSIII may also present with CD. Read More

    Meta-analysis of STAT4 and IFIH1 polymorphisms in type 1 diabetes mellitus patients with autoimmune polyglandular syndrome type III.
    Genet Mol Res 2015 Dec 22;14(4):17730-8. Epub 2015 Dec 22.
    Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
    Type 1 diabetes mellitus (T1D) is an organ-specific autoimmune disease characterized by T-cell mediated self-destruction of insulin-producing β cells in the pancreas. T1D patients are prone to develop other glandular autoimmune disorders, such as autoimmune thyroid disease that occurs simultaneously with autoimmune polyglandular syndrome type III (APSIII). Signal transducer and activator of transcription 4 (STAT4) is a well-known regulator of proinflammatory cytokines, and interferon-induced with helicase C domain 1 (IFIH1) is activated in the interferon type I response. Read More

    [Autoimmune polyglandular syndrome type 1-like clinical picture of hereditary hemochromatosis].
    Przegl Lek 2015 ;72(2):87-9
    The presence of hereditary hemochromatosis, one of the most common genetic disorders in the Caucasian population, disrupting iron absorption, storage and utilization, results in tissue iron overload. Its clinical presentation is usually complex and differs from patient to patient. In this article, the authors report a case of primary adrenal failure followed by primary hypoparathyroidism in a young male patient, describing diagnostic and treatment strategies undertaken in this patient. Read More

    Klin Med (Mosk) 2015 ;93(8):55-9
    Autoimmune polyglandular syndrome is a primary autoimmune disorder affecting two or more peripheral endocrine glands and responsible for their incompetence. It is frequently combined with various organ-specific non-endocrine diseases. Patients with this pathology need life-long replacement therapy and dynamic observation by endocrinologists and other specialists to monitor the effectiveness of the treatment and detect new components of the disease. Read More

    Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
    Horm Res Paediatr 2016 10;85(1):35-42. Epub 2015 Dec 10.
    Discipline of Pediatrics (Division of Endocrinology), Memorial University of Newfoundland, St. John's, Nfld., Canada.
    Background/aims: Primary adrenal insufficiency (AI) is an important cause of morbidity in children. Our objectives were: (1) to describe the clinical presentation of children with new-onset primary AI, and (2) to identify monogenic causes of primary AI in children.

    Methods: Chart review and mutation detection in candidate genes were conducted for 11 patients with primary AI. Read More

    Hyponatremia in a Teenager: A Rare Diagnosis.
    Pediatr Emerg Care 2015 Dec;31(12):860-3
    From the *Pediatric Department, Centro Hospitalar do Alto Ave, Guimarães; †Pediatric Department, Centro Hospitalar do Porto; ‡Pediatric Intensive Care Unit; and §Pediatric Department-Pediatric Endocrinology, Centro Hospitalar de São João EPE, Porto, Portugal.
    Introduction: Hyponatremia is a common electrolyte alteration which has the potential for significant morbidity and mortality. Endocrine disorders, such as primary hypothyroidism and adrenal insufficiency are uncommon causes of hyponatremia. We present the case of a teenager with symptomatic hyponatremia caused by a rare disorder. Read More

    1 OF 18