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    1161 results match your criteria Polyglandular Autoimmune Syndrome Type II

    1 OF 24

    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

    Autoreactive T Cells and Chronic Fungal Infection Drive Esophageal Carcinogenesis.
    Cell Host Microbe 2017 Apr;21(4):478-493.e7
    Cancer and Inflammation Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA. Electronic address:
    Humans with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a T cell-driven autoimmune disease caused by impaired central tolerance, are susceptible to chronic fungal infection and esophageal squamous cell carcinoma (ESCC). However, the relationship between autoreactive T cells and chronic fungal infection in ESCC development remains unclear. We find that kinase-dead Ikkα knockin mice develop APECED-like phenotypes, including impaired central tolerance, autoreactive T cells, chronic fungal infection, and ESCCs expressing specific human ESCC markers. Read More

    Autoimmune enteropathy and hepatitis in pediatric heart transplant recipient.
    Pediatr Transplant 2017 Mar 17;21(2). Epub 2017 Jan 17.
    Department of Pathology, MUSC, Charleston, SC, USA.
    AIE is a rare disorder in children that presents with severe diarrhea and malabsorption, caused by immune-mediated damage to intestinal mucosa. AIE is often associated with various syndromes of immunodeficiency including IPEX syndrome (immune dysregulation, polyendocrinopathy and enteropathy, X-linked). Dysfunctional T regulatory cells are the source of pathology in both IPEX syndrome and AIE as they are essential in maintaining tolerance to self-antigens and eliminating autoreactive B cells. Read More

    Autoimmune Regulator Expression in DC2.4 Cells Regulates the NF-κB Signaling and Cytokine Expression of the Toll-Like Receptor 3 Pathway.
    Int J Mol Sci 2016 Dec 1;17(12). Epub 2016 Dec 1.
    Department of Immunology, College of Basic Medical Sciences, Jilin University, Changchun 130021, China.
    Autoimmune regulator (Aire) mutations result in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), which manifests as multi-organ autoimmunity and chronic mucocutaneous candidiasis (CMC). Indendritic cells (DCs), pattern recognition receptors (PRR), such as Toll-like receptors (TLRs), are closely involved in the recognition of various pathogens, activating the intercellular signaling pathway, followed by the activation of transcription factors and the expression of downstream genes, which take part in mediating the immune response and maintaining immune tolerance. In this study, we found that Aire up-regulated TLR3 expression and modulated the downstream cytokine expression and nuclear factor-κB (NF-κB) of the TLR3 signaling pathway. Read More

    Bidirectional Estrogen-Like Effects of Genistein on Murine Experimental Autoimmune Ovarian Disease.
    Int J Mol Sci 2016 Nov 8;17(11). Epub 2016 Nov 8.
    State Key Laboratory of Food Science and Technology, Nanchang University, Nanchang 330047, China.
    This study was to investigate the bidirectional estrogen-like effects of genistein on murine experimental autoimmune ovarian disease (AOD). Female BALB/c mice were induced by immunization with a peptide from murine zona pellucida. The changes of estrous cycle, ovarian histomorphology were measured, and the levels of serum sex hormone were analyzed using radioimmunoassay. 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

    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 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

    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.

    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

    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

    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 pancreatitis as an element of autoimmune polyglandular syndrome].
    Pol Merkur Lekarski 2016 May;40(239):325-8
    Department of Endocrinology and Isotope Therapy, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, Poland.
    Autoimmune pancreatitis constantly belongs to diseases which often causes significant diagnostic problem and often runs out with surgical intervention as considered to be a pancreatic cancer. Important although usually underestimated problems are polyglandular syndromes, which may consist of autoimmune pancreatitis (AIP) problem as well. This case report is an example of autoimmune polyglandular syndrome (APS), which was connected with the surgical treatment with biliary bypass anastomosis because of the unresectable lesion in the head of pancreas. 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

    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

    GASTRIC CARCINOID TYPE 1 IN A PATIENT WITH AUTOIMMUNE POLYGLANDULAR SYNDROME: ADDITIONAL ENDOCRINOLOGICAL EVALUATION REQUIRED.
    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

    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

    [57-year-old patient with hypopituitarism and coexisting autommune hypothyroidism polyglandular syndrome--a case report].
    Przegl Lek 2015 ;72(8):445-8
    A case of 57-year-old patient with hypopituitarism multihormonal whose symptoms occurred after the last birth history of 16 years ago. Completed studies revealed other irregularities on the basis of which ultimately diagnosed with hypothyroidism polyglandular syndrome patients. 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

    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

    [SPECIFIC CLINICAL FEATURES OF TYPE 1 AUTOIMMUNE POLYGLANDULAR SYNDROME].
    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

    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

    Central tolerance to self revealed by the autoimmune regulator.
    Ann N Y Acad Sci 2015 Nov;1356:80-9
    Diabetes Center.
    The autoimmune regulator (Aire) was initially identified as the gene causing multiorgan system autoimmunity in humans, and deletion of this gene in mice also resulted in organ-specific autoimmunity. Aire regulates the expression of tissue-specific antigens (TSAs) in medullary thymic epithelial cells (mTECs), which play a critical role in the negative selection of autoreactive T cells and the generation of regulatory T cells. More recently, the role of Aire in the development of mTECs has helped elucidate its ability to present the spectrum of TSAs needed to prevent autoimmunity. Read More

    [On the forensic relevance of orphan diseases].
    Arch Kriminol 2015 Sep-Oct;236(3-4):85-95
    A 40-year-old woman died shortly after complaining of non-specific symptoms after a pharmacist had accidentally given her the wrong medication. The woman's partner was not familiar with her medical history and the medical file had to be obtained from the family doctor. Autopsy findings and histological examination confirmed the clinically diagnosed autoimmune polyglandular syndrome without a tangible cause of death. Read More

    [A Novel Clinical Entity "Anti-PIT-1 Antibody Syndrome"--Autoimmunity against a Transcription Factor].
    Rinsho Byori 2015 Apr;63(4):491-7
    Autoimmunity against the pituitary has been observed in patients with hypophysitis. Although various autoantibodies against pituitary proteins have been reported, it is known that most of them are markers for the disease. Recently, a unique autoantibody against pituitary transcription factor PIT-1 (POU1F1) was detected in patients with an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH). Read More

    [Autoimmune diseases in type 1A diabetes mellitus].
    Rev Med Chil 2015 Aug;143(8):1042-9
    Type 1A diabetes (DM1A) is an autoimmune disease that comprises 10% of patients with diabetes mellitus. Its frequency is gradually increasing in countries like Mexico. Patients with DM1A commonly have hypothyroidism, Addison disease, celiac disease and less common diseases such as polyglandular syndrome. Read More

    COEXISTENCE OF ADDISON'S DISEASE AND PERNICIOUS ANEMIA: IS THE NEW CLASSIFICATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME APPROPRIATE?
    Acta Clin Croat 2015 Jun;54(2):232-5
    A case of autoimmune polyglandular syndrome (APS) is presented. A 45-year-old man was admitted due to fatigue, malaise and inappetence. He had a history of primary hypothyroidism and was on levothyroxine substitution therapy. Read More

    Olmesartan-Associated Enteropathy: A Review of Clinical and Histologic Findings.
    Arch Pathol Lab Med 2015 Oct;139(10):1242-7
    From the Department of Pathology, University of Michigan, Ann Arbor.
    Olmesartan is an antihypertensive medication belonging to the angiotensin II receptor blocker class of drugs that has recently been associated with severe enteropathy. Olmesartan-associated enteropathy is uncommon and may be difficult to recognize because of its clinical and histologic similarities to other clinical entities, including celiac sprue and autoimmune enteropathy. The purpose of this article is to review the clinical and histologic findings of olmesartan-associated enteropathy that have been reported in the literature and to discuss clinical entities to consider in the differential diagnosis of olmesartan-associated enteropathy. Read More

    SCHMIDT'S SYNDROME IN A 32 YEARS OLD FEMALE.
    J Ayub Med Coll Abbottabad 2015 Apr-Jun;27(2):467-9
    In polyglandular autoimmune (PGA) syndromes, there is immune dysfunction of two or more endocrine glands. Immunity mediated disorders of non-endocrine organs may also be seen. These syndromes are of two main types: type I and type II. Read More

    ATPase4A Autoreactivity and Its Association With Autoimmune Phenotypes in the Type 1 Diabetes Genetics Consortium Study.
    Diabetes Care 2015 Oct;38 Suppl 2:S29-36
    Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, Aurora, CO.
    Autoantibodies targeting the H+/K+-ATPase proton pump of the gastric parietal cell (parietal cell antibodies [PCA]) are diagnostic of atrophic body gastritis (ABG) leading to pernicious anemia (PA). PCA, ABG, and PA occur in increased frequency in patients with type 1 diabetes and their relatives and are considered "minor" components of forms of autoimmune polyglandular syndrome (APS). A customized radioimmunoprecipitation assay was applied to 6,749 samples from the Type 1 Diabetes Genetics Consortium to measure ATP4A autoreactivity. Read More

    Genetics of Autoimmune Thyroiditis in Type 1 Diabetes Reveals a Novel Association With DPB1*0201: Data From the Type 1 Diabetes Genetics Consortium.
    Diabetes Care 2015 Oct;38 Suppl 2:S21-8
    University Hospital Frankfurt, Frankfurt am Main, Germany
    Background: Autoimmune thyroiditis occurs in 10-25% of patients with type 1 diabetes (T1D). Most of these patients are also positive for thyroid peroxidase (TPO) antibodies. Thyroid dysfunction complicates T1D metabolic control and is a component of the autoimmune polyglandular syndrome (APS, type 2 or 3). Read More

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