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    1150 results match your criteria Polyglandular Autoimmune Syndrome Type II

    1 OF 23

    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 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.

    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

     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 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

    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

    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

    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

    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

    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

    Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1.
    Autoimmunity 2015 27;48(8):532-41. Epub 2015 Aug 27.
    b UDSL, EA 2686, UFR Médecine , Lille , France .
    Objective: Autoimmune polyendocrine syndrome type 1 (APS 1) is caused by mutations in the AIRE gene that induce intrathymic T-cell tolerance breakdown, which results in tissue-specific autoimmune diseases.

    Design: To evaluate the effect of a well-defined T-cell repertoire impairment on humoral self-reactive fingerprints, comparative serum self-IgG and self-IgM reactivities were analyzed using both one- and two-dimensional western blotting approaches against a broad spectrum of peripheral tissue antigens.

    Methods: Autoantibody patterns of APS 1 patients were compared with those of subjects affected by other autoimmune endocrinopathies (OAE) and healthy controls. Read More

    Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome.
    J Pediatr Endocrinol Metab 2016 Feb;29(2):237-40
    Thyrotropinomas (TSHomas) are rare pituitary adenomas, particularly in childhood. We present here the case of an 11-year-old boy with type 1 autoimmune polyglandular syndrome (APS1) and TSHoma which was diagnosed by elevated thyroid - stimulating hormone and thyroid hormones levels without evident clinical signs of hyperthyroidism. He was underwent partial resection of the tumor via transsphenoidal approach and subsequently radiation therapy. Read More

    Addison's disease in a patient with hypothyroidism: autoimmune polyglandular syndrome type 2.
    BMJ Case Rep 2015 Aug 3;2015. Epub 2015 Aug 3.
    Tauranga Hospital, Tauranga, Bay of Plenty, New Zealand.
    A 57-year-old Caucasian woman with known autoimmune hypothyroidism diagnosed in 2006 presented to hospital with flu-like symptoms and circulatory collapse. She reported weight loss and gradual increase in her skin pigmentation over a 1-year period. Aggressive fluid resuscitation was instituted. Read More

    Autoimmune polyendocrine syndrome and thrombocytosis.
    Acta Clin Belg 2015 Dec 31;70(6):457-60. Epub 2015 Jul 31.
    The Université libre de Bruxelles , Belgium.
    We describe a woman aged 37  years, affected with Hashimoto's thyroiditis, detected since the age of 17, with gonadic insufficiency with anti-ovarian antibodies since the age of 22  years and Addison's disease since 24  years old. At that moment, the diagnosis of autoimmune polyendocrine syndrome (APS) was made. Concomitant to this diagnosis, thrombocytosis was detected and aetiological assessment revealed an atrophy of the spleen. Read More

    [Difference in target antigens between central tolerance and peripheral tolerance deficiencies].
    Nihon Rinsho Meneki Gakkai Kaishi 2015 ;38(3):142-9
    Department of Dentistry for Children and Disabled Persons, Hokkaido University Graduate School of Dental Medicine.
    Failure of the immunotolerance mechanisms causes multiple organ-specific autoimmune disorders. Mutations of autoimmune regulator (AIRE) gene result in central immunotolerance deficiency named autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy (APECED). Mutations of FOXP3 genes cause regulatory T cell (Treg) deficiency named immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Read More

    Low vitamin D levels in healthy controls and patients with autoimmune neuromuscular disorders in Greece.
    Acta Neurol Belg 2016 Mar 17;116(1):57-63. Epub 2015 Jul 17.
    Department of Clinical Neurophysiology, Institute of Neuroscience, Uppsala University Hospital, Uppsala University, 75185, Uppsala, Sweden.
    Normal autoimmune function is dependent on adequate levels of activated vitamin D, 25 hydroxy vitamin D [25(OH)D]. A recent study presented deficiency of 25(OH)D levels in Swedish MG patients. We aimed to study 25(OH)D levels in patients with MG and autoimmune polyneuropathies (PNP) at a southern latitude in Greece. Read More

    Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1.
    J R Coll Physicians Edinb 2015 ;45(2):136-40
    R Sinha, Scottish Liver Transplant Unit, Royal Infirmary of Edinburgh, Little France, Edinburgh EH16 4SA, UK. Email
    Fulminant hepatic failure is liver disease that causes encephalopathy within 8 weeks of onset of symptoms or within 2 weeks of onset of jaundice in a patient without prior evidence of liver disease. Autoimmune polyendocrine syndrome type-1 is an autoimmune autosomal-recessive condition causing parathyroid and adrenal insufficiency, alopecia, chronic mucocutaneous candidiasis, ectodermal dystrophy and, rarely, hepatitis. Although the liver can be affected as a consequence of the autoimmune process, the spectrum of disease activity is varied. Read More

    [Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus].
    Wiad Lek 2015 ;68(2):204-7
    Autoimmune polyglandular syndromes are conditions characterized by the combination of two or more organ-specific disorders. The underestimation oftheir real frequency probable results from physicians' inadequate knowledge of these clinical entities and sometimes their atypical clinical presentation. Because they comprise a wide spectrum of autoimmune disorders, autoimmune polyglandular syndromes are divided into four types, among which type-3 is the most common one. Read More

    Wireless capsule endoscopy as a tool in diagnosing autoimmune enteropathy.
    BMJ Case Rep 2015 Jul 6;2015. Epub 2015 Jul 6.
    Department of Medical Gastroenterology and Hepatology, Odense University Hospital, Odense C, Denmark.
    Autoimmune enteropathy (AE) is an immune mediated illness of the intestinal mucosa. The cause is unknown, and the diagnosis is based on typical characteristics displayed. There is no gold standard for treatment. Read More

    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
    J Clin Immunol 2015 Jul 5;35(5):463-78. Epub 2015 Jul 5.
    Institute of Biomedicine and Translational Medicine, University of Tartu, 19 Ravila Str., Tartu, EE50411, Estonia,
    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. This review focuses on the clinical and immunological features of APECED, summarizes the current knowledge on the function of AIRE and discusses the importance of autoantibodies in disease diagnosis and prognosis. Additionally, we review the outcome of recent immunomodulatory treatments in APECED patients. Read More

    Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
    Cornea 2015 Sep;34(9):1086-91
    *APHP, Hôpital Lariboisière, Service d'Ophtalmologie, Paris, France; †Université Paris Diderot, Sorbonne Paris Cité, Paris, France; ‡APHP, Hôpital Cochin, Service d'Ophtalmologie, Paris, France; §Université Paris Descartes, Faculté de Médecine, Paris, France; ¶Institute for Biomedical Research, Faculty of Medecine, University of Rouen, France; ‖Department of Genetics, Rouen University Hospital, Rouen, France; **AP-HP, Hôpital Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, and Institut National de la Santé et de la Recherche Médicale, Paris, France; and ††APHP, Hôpital Cochin, Service d'Endocrinologie, Paris, France.
    Purpose: To report the spectrum of phenotypes in patients with autoimmune polyendocrinopathy syndrome type 1 (APS1)-related keratopathy.

    Methods: In this retrospective observational case series, 6 patients followed for APS1 were included. Data collected included family history, age at presentation, and systemic and ophthalmic manifestations. Read More

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