Search our Database of Scientific Publications and Authors

I’m looking for a

    1199 results match your criteria Polyglandular Autoimmune Syndrome Type II

    1 OF 24

    Peculiarities of autoimmune polyglandular syndromes in children and adolescents.
    Acta Biomed 2017 Oct 23;88(3):271-275. Epub 2017 Oct 23.
    Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.
    Background: no reviews have specifically addressed , to now, whether autoimmune polyglandular syndromes (APSs) may have a peculiar epidemiology and phenotypical expression in pediatric ageObjectives: to review the most recent literature data about the specific epidemiological and clinical peculiarities of APSs in childhood and adolescenceDesign: the main features of the different APSs in pediatric age were compared among them.

    Conclusions: 1) Among the different APSs, the one that is most typical of pediatric age is APS-1; 2) APS-1 is not characterized only by the classical triad (chronic moniliasis-hyposurrenalism-hypoparathyroidism) and its clinical spectrum is enlarging over time; 3)APS-2 may have a different epidemiological and clinical expression according to two different nosological classifications. Read More

    A novel data-driven workflow combining literature and electronic health records to estimate comorbidities burden for a specific disease: a case study on autoimmune comorbidities in patients with celiac disease.
    BMC Med Inform Decis Mak 2017 Sep 29;17(1):140. Epub 2017 Sep 29.
    Georges Pompidou European Hospital (HEGP), AP-HP, Paris, France.
    Background: Data collected in EHRs have been widely used to identifying specific conditions; however there is still a need for methods to define comorbidities and sources to identify comorbidities burden. We propose an approach to assess comorbidities burden for a specific disease using the literature and EHR data sources in the case of autoimmune diseases in celiac disease (CD).

    Methods: We generated a restricted set of comorbidities using the literature (via the MeSH® co-occurrence file). Read More

    Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.
    J Clin Endocrinol Metab 2017 Sep;102(9):3546-3556
    Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
    Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare.

    Objective: To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort. Read More

    Celiac Disease and Other Causes of Duodenitis.
    Arch Pathol Lab Med 2018 Jan 31;142(1):35-43. Epub 2017 Jul 31.
    From the Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.
    Context: - Patients who receive an upper gastrointestinal endoscopic examination frequently have biopsies taken from the duodenum. Accurate interpretation of duodenal biopsies is essential for patient care. Celiac disease is a common clinical concern, but pathologists need to be aware of other conditions of the duodenum that mimic celiac disease. Read More

    Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment.
    Scand J Immunol 2017 Oct;86(4):221-228
    Department of Bacteriology and Immunology, University of Helsinki, Helsinki, Finland.
    Mutations in the autoimmune regulator gene disrupt thymic T cell development and negative selection, leading to the recessively inherited polyendocrine autoimmune disease autoimmune polyendocrine syndrome type 1 (APS-1). The patients also have a functional defect in the FOXP3regulatory T cell population, but its origin is unclear. Here, we have used T cell receptor sequencing to analyse the clonal relationship of major CD4T cell subsets in three patients and three healthy controls. Read More

    [Oral diseases in auto-immune polyendocrine syndrome type 1].
    Presse Med 2017 Sep 3;46(9):853-863. Epub 2017 Jul 3.
    Polyclinique Aguilera, 21, rue de l'Estagnas, 64200 Biarritz, France.
    Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. Read More

    Premature ovarian failure could be an alarming sign of polyglandular autoimmune dysfunction.
    Endocr Regul 2017 Apr;51(2):114-116
    .
    A 31-year-old lady, diagnosed to have premature ovarian failure in the gynecology clinic, was referred for endocrine assessment because of an abnormal thyroid function test. Clinical examination revealed hypotension, and fungal skin infection under her atrophic breasts. Thyroid stimulating hormone (TSH) level was very high. Read More

    A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
    Immunogenetics 2017 10 24;69(10):643-651. Epub 2017 May 24.
    Department of Endocrinology, China Three Gorges University & Yichang Central People's Hospital, Yi Ling Road 181, Yichang, 443003, China.
    Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. Read More

    Celiac Disease and Nonceliac Gluten Sensitivity.
    Pediatr Clin North Am 2017 Jun;64(3):563-576
    Pediatric Gastroenterology & Nutrition, University of Maryland, 22 South Greene Street, N5W68, Baltimore, MD 21201, USA.
    Gluten-related disorders include celiac disease (CD), wheat allergy, and nonceliac gluten sensitivity. CD is an autoimmune enteropathy caused by damage to small intestinal mucosa when gluten is ingested in genetically susceptible individuals. Currently, the only available treatment of CD is gluten-free diet. Read More

    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

    A case of autoimmune polyendocrine syndrome type I with strong positive GAD antibody titer, followed up with glucose tolerance measured by oral glucose tolerance test.
    Neuro Endocrinol Lett 2017 Jan;37(8):540-542
    Department of Internal Medicine, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
    A 26-year-old Japanese woman presented with adrenal insufficiency, and treatment was started with cortisone and fludrocortisone in 1975. A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I), and treatment with calcium and alfacalcidol was started. She was found to have subacute thyroiditis and relative adrenal failure in 2006. Read More

    Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.
    J Clin Endocrinol Metab 2017 May;102(5):1726-1733
    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.
    Context: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH.

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

    Subjects: We studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of life. Read More

    Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children.
    Ital J Pediatr 2017 Jan 19;43(1):11. Epub 2017 Jan 19.
    Department of Microbiology and Immunology- UNC Hospitals Children's Specialty Clinic- Chapel Hill, Chapel Hill, NC, USA.
    Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. It is characterized by the association of multiple autoimmune diseases, with a classical triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years with the apparence of new entities. Read More

    A Novel Clinical Entity of Autoimmune Endocrinopathy: Anti-PIT-1 Antibody Syndrome.
    Front Horm Res 2017 28;48:76-83. Epub 2017 Feb 28.
    Pituitary-specific transcription factor 1 (PIT-1; POU domain, class 1, transcription factor 1 (POU1F1)) is an essential transcription factor for the differentiation of somatotrophs, lactotrophs, and thyrotrophs, and for the expression of growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH). Mutations in PIT-1 cause congenital defects in GH and PRL secretion and severe TSH insufficiency. Anti-PIT-1 antibody syndrome, firstly reported in 2011, is characterized by acquired GH, PRL, and TSH deficiencies without PIT-1 mutation and is associated with the presence of the circulating antibody against PIT-1 protein as a marker. Read More

    Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome.
    J Pediatr Endocrinol Metab 2017 Mar;30(3):365-369
    Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Read More

    [Cancer and mycoses and literature review].
    Bull Soc Pathol Exot 2017 Feb 11;110(1):80-84. Epub 2017 Feb 11.
    Service de parasitologie-mycologie, Hôpital Saint Antoine, 184 rue du Faubourg Saint Antoine, 75012, Paris, France.
    Various infectious agents are classical risk factors for cancer including bacteria, viruses and parasites. There is less evidence concerning the implication of fungal infection in carcinogenesis. The role of chronic Candida infection in the development of squamous cell carcinoma has been suspected for years. Read More

    Topical tacrolimus solution in autoimmune polyglandular syndrome-1-associated keratitis.
    Br J Ophthalmol 2017 09 30;101(9):1230-1233. Epub 2017 Jan 30.
    The Eye Center and the Eye Foundation for Research in Ophthalmology, Riyadh, Saudi Arabia.
    Purpose: To evaluate the efficacy of topical tacrloimus eye drops in the treatment of keratitis associated with autoimmune polyglandular syndrome (APS)-1.

    Methods: This is a retrospective review of 10 patients with APS-1. The patients were treated with topical tacrolimus 0. 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 Jun;55(7):1003-1012
    .
    Background: Measurements of autoantibodies to interferon-ω (IFN-ω) in patients with autoimmune polyglandular syndrome type 1 (APS-1) were performed using a new immunoprecipitation assay (IPA) based on 125I-labeled IFN-ω.

    Methods: We have developed and validated a new IPA based on 125I-labeled IFN-ω. Sera from 78 patients (aged 3-78 years) with clinically diagnosed APS-1, 35 first degree relatives, 323 patients with other adrenal or non-adrenal autoimmune diseases and 84 healthy blood donors were used in the study. Read More

    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

    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

    Aire Inhibits the Generation of a Perinatal Population of Interleukin-17A-Producing γδ T Cells to Promote Immunologic Tolerance.
    Immunity 2016 11;45(5):999-1012
    Division of Immunology, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:
    Aire's primary mechanism of action is to regulate transcription of a battery of genes in medullary thymic epithelial cells (mTECs) and, consequently, negative selection of effector T cells and positive selection of regulatory T cells. We found that Aire-deficient mice had expanded thymic and peripheral populations of perinatally generated IL-17AVγ6Vδ1T cells, considered to be "early responders" to tissue stress and drivers of inflammatory reactions. Aire-dependent control of Il7 expression in mTECs regulated the size of thymic IL-17AVγ6Vδ1compartments. 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.

    Altered B cell homeostasis and Toll-like receptor 9-driven response in patients affected by autoimmune polyglandular syndrome Type 1: Altered B cell phenotype and dysregulation of the B cell function in APECED patients.
    Immunobiology 2017 02 9;222(2):372-383. Epub 2016 Sep 9.
    Immuno-Infectivology and Clinical Trials Research Area, Children's Hospital Bambino Gesù, Rome, Italy. Electronic address:
    APECED is a T-cell mediated disease with increased frequencies of CD8+ effector and reduction of FoxP3+ T regulatory cells. Antibodies against affected organs and neutralizing to cytokines are found in the peripheral blood. The contribution of B cells to multiorgan autoimmunity in Aire-/- mice was reported opening perspectives on the utility of anti-B cell therapy. Read More

    AIRE-mutations and autoimmune disease.
    Curr Opin Immunol 2016 Dec 6;43:8-15. Epub 2016 Aug 6.
    Department of Clinical Science, University of Bergen, 5021 Bergen, Norway; Department of Medicine, Haukeland University Hospital, 5021 Bergen, Norway. Electronic address:
    The gene causing the severe organ-specific autoimmune disease autoimmune polyendocrine syndrome type-1 (APS-1) was identified in 1997 and named autoimmune regulator (AIRE). AIRE plays a key role in shaping central immunological tolerance by facilitating negative selection of T cells in the thymus, building the thymic microarchitecture, and inducing a specific subset of regulatory T cells. So far, about 100 mutations have been identified. Read More

    Polyglandular endocrinopathy type II (Schmidt's syndrome) in a Dobermann pinscher.
    J Small Anim Pract 2016 Sep 3;57(9):491-4. Epub 2016 Aug 3.
    School of Veterinary Medicine and Science, University of Nottingham, Leicestershire NG7 2RD.
    A three-year-old, female neutered, Dobermann pinscher was presented for investigation of lethargy, episodic collapse, ataxia and myxoedema. Primary hypothyroidism and primary cortisol-deficient hypoadrenocorticism were diagnosed based on history, physical examination and compatible hormonal analysis. Increased serum concentrations of thyroglobulin autoantibodies and 21-hydroxylase autoantibodies indicated an immune-mediated aetiology. Read More

    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

    Murine uterine decidualization is a novel function of autoimmune regulator-beyond immune tolerance.
    Am J Reprod Immunol 2016 Sep 19;76(3):224-34. Epub 2016 Jul 19.
    Female Reproduction and Metabolic Syndromes Laboratory, Division of Molecular Reproduction, Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram, Kerala, India.
    Problem: Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED, APS-1) patients characterized by Aire (autoimmune regulator) mutations and Aire homozygous knockouts (Aire(-/-) ) exhibit infertility. It is not clear as to what contributes to infertility in the above.

    Method Of Study: This study investigates the expression of "AIRE in the uterus" and its contribution to early pregnancy of mice by using quantitative real-time PCR analysis, immunohistochemistry, Western blotting, and in vivo Aire silencing experiments. Read More

    AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies.
    Cell 2016 Jul 14;166(3):582-595. Epub 2016 Jul 14.
    Peter Gorer Department of Immunobiology, King's College, London SE19RT, UK. Electronic address:
    APS1/APECED patients are defined by defects in the autoimmune regulator (AIRE) that mediates central T cell tolerance to many self-antigens. AIRE deficiency also affects B cell tolerance, but this is incompletely understood. Here we show that most APS1/APECED patients displayed B cell autoreactivity toward unique sets of approximately 100 self-proteins. Read More

    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

    Seronegative celiac disease: Shedding light on an obscure clinical entity.
    Dig Liver Dis 2016 Sep 11;48(9):1018-22. Epub 2016 Jun 11.
    Department of Medical and Surgical Sciences, University of Bologna, St. Orsola-Malpighi Hospital, Italy. Electronic address:
    Background: Although serological tests are useful for identifying celiac disease, it is well established that a minority of celiacs are seronegative.

    Aim: To define the prevalence and features of seronegative compared to seropositive celiac disease, and to establish whether celiac disease is a common cause of seronegative villous atrophy.

    Methods: Starting from 810 celiac disease diagnoses, seronegative patients were retrospectively characterized for clinical, histological and laboratory findings. Read More

    Cutting Edge: Commensal Microbiota Has Disparate Effects on Manifestations of Polyglandular Autoimmune Inflammation.
    J Immunol 2016 08 20;197(3):701-5. Epub 2016 Jun 20.
    Department of Pathology, The University of Chicago, Chicago, IL 60637; Committee on Immunology, The University of Chicago, Chicago, IL 60637; Committee on Microbiology, The University of Chicago, Chicago, IL 60637
    Polyglandular autoimmune inflammation accompanies type 1 diabetes (T1D) in NOD mice, affecting organs like thyroid and salivary glands. Although commensals are not required for T1D progression, germ-free (GF) mice had a very low degree of sialitis, which was restored by colonization with select microbial lineages. Moreover, unlike T1D, which is blocked in mice lacking MyD88 signaling adaptor under conventional, but not GF, housing conditions, sialitis did not develop in MyD88(-/-) GF mice. Read More

    Expanded CD4(+) Effector/Memory T Cell Subset in APECED Produces Predominantly Interferon Gamma.
    J Clin Immunol 2016 Aug 4;36(6):555-63. Epub 2016 Jun 4.
    Department of Bacteriology and Immunology, Immunobiology Research Program, Haartman Institute, University of Helsinki, PB21, Haartmaninkatu 3, 00014, Helsinki, Finland.
    Purpose: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare human autoimmune disorder caused by mutations in the AIRE (autoimmune regulator) gene. Loss of AIRE disrupts thymic negative selection and gives rise to impaired cytotoxic and regulatory T cell populations. To date, CD4(+) T helper (Th) cells remain little studied. Read More

    A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.
    J Clin Endocrinol Metab 2016 Aug 2;101(8):2975-83. Epub 2016 Jun 2.
    Department of Clinical Science (Ø.B., B.E.O., E.B., B.G.N., L.B., P.M.K., K.Lo., A.B.W., E.S.H.), University of Bergen, 5021 Bergen, Norway; Department of Medicine (Solna) (N.L., O.K.), Karolinska Institutet, 171 76 Stockholm, Sweden; Science for Life Laboratory (N.L.), Department of Medical Sciences, University of Uppsala, 751 05 Uppsala, Sweden; Department of Medicine (M.M.E., K.Lo., E.S.H.), Haukeland University Hospital, 5021 Bergen, Norway; Department of Medicine (K.Li.,), Akershus University Hospital, 1474 Nordbyhagen, Norway; Department of Endocrinology (K.Li., A.P.J.), Oslo University Hospital, 0372 Oslo, Norway; Department of Pediatrics (A.G.M.), Oslo University Hospital, 0424 Oslo, Norway; Division of Internal Medicine (J.S.), University Hospital of North Norway, 9019 Tromsø, Norway; Institute of Clinical Medicine (J.S.), University of Tromsø, The Artic University of Norway, 9019 Tromsø, Norway; Department of Endocrinology (K.J.F.), St. Olavs Hospital, 7006 Trondheim, Norway; Department of Medicine (Å.B.), Stavanger University Hospital, 4011 Stavanger, Norway; Department of Medicine (B.G.N.), Haugesund Hospital, 5504 Haugesund, Norway; Department of Medicine (B.M.), Østfold Hospital, 1603 Fredrikstad, Norway; Department of Immunology (M.K.V.), Oslo University Hospital, 0372 Oslo, Norway; University of Oslo (M.K.V.), 0372 Oslo, Norway; Center for Medical Genetics and Molecular Medicine (P.M.K.), Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Dentistry (M.C.M.), Faculty of Medicine and Dentistry, University of Bergen, 5021 Bergen, Norway; and Oral Health Centre of Expertise in Western Norway (M.C.M.), 5021 Bergen, Norway.
    Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse.

    Objective: To describe the phenotypes of APS1 and correlate the clinical features with autoantibody profiles and autoimmune regulator (AIRE) mutations during extended follow-up (1996-2016). 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

    1 OF 24