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Int J Trichology 2022 Mar-Apr;14(2):62-64. Epub 2022 Apr 4.

Pediatrics I Clinic, Mureş Emergency Hospital, Tîrgu Mureş, Romania.

Alopecia areata (AA) is an organ-specific autoimmune disease which affects hair follicles. It usually presents as a transient patchy hair loss, but it can sometimes progress into more severe forms such as AA totalis or AA universalis (AAU). Different autoimmune diseases, as well as autoimmune polyglandular syndromes (APS), have been associated with AA, especially with Type I and Type II APS. Read More

Arch Clin Cases 2019 27;6(4):109-111. Epub 2021 Oct 27.

Department of Endocrinology, Metabolism and Nutrition, CNHU-HKM Cotonou, Bénin.

Autoimmune polyendocrinopathies are rare diseases characterized by the coexistence of at least two endocrine diseases linked to an autoimmune mechanism, however sometimes are associated with non-endocrine autoimmune diseases. They are divided into two main subgroups: autoimmune polyendocrinopathy type I and polyendocrinopathies type II-IV. We report a case of a 53-year-old female patient followed for 2 years for Hashimoto's thyroiditis. Read More

Clin Transl Gastroenterol 2021 08 1;12(8):e00387. Epub 2021 Aug 1.

Department of Gastroenterology and Hepatology, Amsterdam UMC, Vrije Universiteit Amsterdam, AGEM Institute, Amsterdam, the Netherlands.

Introduction: Adult-onset autoimmune enteropathy (AIE) is a rare cause of severe chronic diarrhea because of small intestinal villous atrophy. We report on patients with adult-onset AIE in an European referral center.

Methods: Retrospective study including patients diagnosed with AIE in the Amsterdam UMC, location VUmc, between January 2003 and December 2019. Read More

Neurol Sci 2021 Nov 31;42(11):4789-4792. Epub 2021 Jul 31.

Center for Neuromuscular Diseases, "SS Annunziata" Hospital, Chieti, Abruzzo, Italy.

J Clin Endocrinol Metab 2021 08;106(9):e3381-e3389

Institute of Epidemiology and Medical Biometry, Central Institute for Biomedical Technology, Ulm University, Ulm, Germany.

Context: Autoimmune diseases affect ~8% of the population. Type 1 diabetes mellitus (T1DM) is linked to other autoimmune diseases (AIDs), such as autoimmune thyroid disease or Addison's disease (AD), that may impact diabetes therapy and outcome.

Objective: To analyze demographic and clinical characteristics of other AIDs in T1DM from a large standardized registry, the Prospective Diabetes Follow-up Registry (DPV). Read More

Endocrinol Diabetes Metab Case Rep 2020 Jul 29;2020. Epub 2020 Jul 29.

Endocrinology, Auckland District Health Board, Auckland, New Zealand.

Summary: Polyglandular autoimmune syndrome type II is a rare condition defined by the presence of autoimmune primary adrenal insufficiency along with autoimmune thyroid disease and/or type-I diabetes. Onset of these conditions will usually be separated by several years, though in rare instances it can occur simultaneously. This syndrome can also be associated with various non-endocrine autoimmune diseases, such as vitiligo and alopecia. Read More

J Endocrinol Invest 2020 Sep 17;43(9):1-9. Epub 2020 Aug 17.

First Department of Medicine, Medical School, University of Pécs, 13 Ifjúság, Pecs, 7624, Hungary.

Purpose: Polyglandular autoimmune syndromes (PAS) are complex, heterogeneous disorders in which various autoimmune diseases can occur, affecting both endocrine and non-endocrine organs. In this meta-analysis, the prevalence of associated autoimmune disorders was investigated in PAS II and III.

Methods: A comprehensive search in MEDLINE and Embase databases identified 479 studies with the keywords of PAS II and PAS III. Read More

Medicine (Baltimore) 2020 Feb;99(7):e19179

Department of VIP Unit, China-Japan Union Hospital of Jilin University, Changchun, China.

Rationale: Polyglandular autoimmune syndromes (PAS) are a heterogeneous group of rare diseases characterized by the association of at least 2 organ-specific autoimmune disorders, concerning both the endocrine and nonendocrine organs. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune conditions (other than Addison disease), and is divided into 4 subtypes. We describe a patient with Hashimoto thyroiditis, adult-onset Still disease, alopecia, vasculitis, antineutrophil cytoplasmic antibody (ANCA)-mediated crescentic glomerulonephritis, and hyperparathyroidism. Read More

J Diabetes Investig 2020 Jul 16;11(4):1006-1009. Epub 2020 Feb 16.

Department of Endocrinology and Diabetes, School of Medicine, Saitama Medical University, Saitama, Japan.

We present the first case of simultaneous development of Graves' disease and type 1 diabetes during anti-programmed cell death 1 therapy. A 48-year-old man with parotid gland adenocarcinoma and lung metastasis had received five courses of nivolumab. Fourteen days after administration of the sixth course, his casual plasma glucose and hemoglobin A1c levels were 379 mg/dL and 7. Read More

J Clin Endocrinol Metab 2020 06;105(6)

Molecular Thyroid Research Laboratory, Department of medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany.

Context: The structure of the human leucocyte antigen (HLA) peptide-binding clefts strongly contributes to monoglandular and polyglandular autoimmunity (AP).

Objective: To investigate the impact of amino acid polymorphisms on the peptide-binding interactions within HLA class II and its association with AP.

Design: Immunogenetic study. Read More

J Clin Endocrinol Metab 2019 10;104(10):4769-4782

Orphan Disease Center for Autoimmune Polyendocrinopathy, Department of Medicine I, Johannes Gutenberg University Medical Center, Mainz, Germany.

Context: This mini-review offers an update on the rare autoimmune polyendocrinopathy (AP) syndrome with a synopsis of recent developments.

Design And Results: Systematic search for studies related to pathogenesis, immunogenetics, screening, diagnosis, clinical spectrum, and epidemiology of AP. AP (orphan code ORPHA 282196) is defined as the autoimmune-induced failure of at least two glands. Read More

Clin Case Rep 2018 Nov 2;6(11):2178-2184. Epub 2018 Oct 2.

Internal Medicine Department, Faculty of Medicine Alexandria University Alexandria Egypt.

The autoimmune polyglandular syndrome is a sequential chain of autoimmune events. Whenever diagnosed, the clinician's target should be induction of remission and if possible hindering its progression especially if associated with refractory vitiligo, resistant Grave's, or unexplained hyperglycemia in T1DM. Azathioprine could be used for induction of remission in autoimmune polyglandular syndrome type three especially with vitiligo and autoimmune thyroiditis. Read More

BMJ Case Rep 2018 Oct 27;2018. Epub 2018 Oct 27.

Department of Dermatology, Kawasaki Medical School, Kurashiki, Okayama, Japan.

We experienced a 6-year-old case of drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) with subsequent development autoimmune thyroiditis (Hashimoto's thyroiditis), type 1 diabetes with antithyroglobulin, thyroid peroxidase, insulinoma-associated antigen and anti-insulin antibodies at 4 months, alopecia at 7 months, vitiligo, uveitis due to Vogt-Koyanagi-Harada disease at 8 months after clinical resolution of the DiHS/DRESS. He was diagnosed as type III polyglandular autoimmune syndrome (PASIII) after DiHS/DRESS. Prompted by this case, we sought to determine which triggering factors were responsible for later development of PASIII in previously published cases with autoimmune sequelae. Read More

Endocr Metab Immune Disord Drug Targets 2019 ;19(1):90-94

Department of Neurology, Gozde Akademi Hospital Malatya, Ankara asfalti 6. Km No:219, 44110 Yesilyurt/ Malatya, Turkey.

Backgraund and Objective: Anti-Saccharomyces Cerevisiae Antibodies (ASCA) that are considered to reflect immune response against increased intestinal permeability due to mucosal damage are among the serological markers of Crohn's Disease.

Methods: This microbial seromarker was recently shown to be elevated in several autoimmune disorders such as celiac disease, autoimmune liver diseases, type 1 diabetes, and Graves' disease. Despite that fact, ASCA seropositivity in Autoimmune Polyglandular Syndrome (APS) has never been reported before. Read More

Pediatr Endocrinol Diabetes Metab 2017 ;23(1):49-55

Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, Poland.

Polyglandular autoimmune syndromes (PAS) is a group of heterogenous conditions characterized by the association of at least two organ-specific autoimmune disorders, concerning both endocrine and non-endocrine organs. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune condition (other than Addison's disease) and is divided into four subtypes. We describe a teenage female patient - with the family history of autoimmune diseases, who has simultaneously developed the symptoms of autoimmune thyroid disease with the clinical picture of hyperthyroidism and myasthenia gravis at the age of fifteen. Read More

Endocrine 2018 01 7;59(1):109-119. Epub 2017 Sep 7.

Department of Biological Chemistry, School of Medicine, National and Kapodistrian University of Athens, Athens, 11527, Greece.

Purpose: Circadian timing system is a highly conserved, ubiquitous molecular "clock" which creates internal circadian rhythmicity. Dysregulation of clock genes expression is associated with various diseases including immune dysregulation. In this study we investigated the circadian pattern of Clock-related genes in patients with polyglandular autoimmune syndrome type III (PAS type III). Read More

Acta Endocrinol (Buchar) 2017 Jan-Mar;13(1):106-110

"Carol Davila" University of Medicine and Pharmacy, Dept. of Dermatology, Elias University Hospital, Bucharest, Romania.

Introduction: The polyglandular autoimmune syndrome (PAS) type III is a rare condition defined as the coexistence of autoimmune thyroid disorder with other endocrine autoimmune diseases, including type 1 diabetes, without adrenal dysfunction. PAS may associate with other non-endocrine autoimmune diseases, overlapping with the multiple autoimmune syndromes (MAS). We present a case of PAS III/ MAS type 3, including autoimmune thyroiditis, autoimmune diabetes, vitiligo, lupus erythematosus, associated with adult-onset atopic dermatitis, a combination not reported previously. Read More

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

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

Endocrinol Diabetes Metab Case Rep 2016 28;2016. Epub 2016 Jul 28.

Walter Reed National Military Medical Center , Bethesda, Maryland , USA.

Unlabelled: A 71-year-old woman with severe right lower leg pain, edema and erythema was presented to the Emergency Department and was found to have an extensive deep vein thrombosis (DVT) confirmed by ultrasound. She underwent an extensive evaluation due to her prior history of malignancy and new hypercoagulable state, but no evidence of recurrent disease was detected. Further investigation revealed pernicious anemia (PA), confirmed by the presence of a macrocytic anemia (MCV=115. Read More

Pediatr Rheumatol Online J 2016 Jun 2;14(1):34. Epub 2016 Jun 2.

Pediatric Rheumatology, University of Basel Children's Hospital, Spitalstrasse 33, CH - 4031, Basel, Switzerland.

Background: To analyze the clinical presentation and complications of varicella zoster virus (VZV) infection in children with rheumatic diseases treated with immunosuppressive medication such as biological disease-modifying antirheumatic drugs (bDMARDs) and/or conventional disease-modifying antirheumatic drugs (cDMARDs), and to analyze the therapeutic approach to VZV infections with respect to the concomitant immunosuppressive treatment.

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

Genet Mol Res 2015 Dec 28;14(4):18936-44. Epub 2015 Dec 28.

Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.

Type 1 diabetes mellitus (T1D) is a complex disorder characterized by an autoimmune response against human pancreatic beta-cells. Patients with T1D can also develop a response toward one or more other factors, such as in autoimmune thyroiditis (AITD) and celiac disease (CD). In the presence of T1D + AITD, the patient is diagnosed with autoimmune polyglandular syndrome type III (APSIII); patients with APSIII may also present with CD. Read More

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

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

Genet Mol Res 2015 Jan 15;14(1):29-33. Epub 2015 Jan 15.

Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.

The aim of this study was to perform an association study between seven Fyn-binding protein gene (FYB)-tag single nucleotide polymorphisms (SNPs) and type I diabetes mellitus (T1DM), as well as with disease age of onset. We also assessed the role of FYB SNPs in the insurgence of autoimmune polyglandular syndrome type III (APSIII), characterized by the simultaneous presence of autoimmune thyroid disease and celiac disease, in patients with T1DM from a Northeastern Brazilian population. One hundred and seventy-seven patients with T1DM and 190 healthy individuals were genotyped for seven tag SNPs, covering most of the FYB locus, using real-time polymerase chain reaction amplification. Read More

World J Diabetes 2015 Feb;6(1):67-79

Martin P Hansen, Nina Matheis, George J Kahaly, Department of Medicine I, Johannes Gutenberg University Medical Center, 55131 Mainz, Germany.

Type 1 diabetes (T1D) is an autoimmune disorder caused by inflammatory destruction of the pancreatic tissue. The etiopathogenesis and characteristics of the pathologic process of pancreatic destruction are well described. In addition, the putative susceptibility genes for T1D as a monoglandular disease and the relation to polyglandular autoimmune syndrome (PAS) have also been well explored. Read More

GE Port J Gastroenterol 2015 Jan-Feb;22(1):15-18. Epub 2015 Jan 12.

Internal Medicine Department, Universidade Federal da Paraíba, Paraíba, Brazil.

Introduction: Polyglandular syndrome is characterized by the association of autoimmune, organ-specific, endocrine and non-endocrine diseases.

Objective: To present a case of polyglandular syndrome type III (b) accompanied by pernicious anemia and autoimmune thyroiditis.

Method: Report the clinical case of a young patient that developed progressive and disabling peripheral neuropathy framework, triggered by vitamin B12 deficiency. Read More

Int J Dermatol 2014 Nov 30;53(11):e507-11. Epub 2014 Sep 30.

Department of Dermatology, University Hospital of La Coruña, La Coruña, Spain.

Background: Psoriasis can significantly affect the physical, psychological, and social aspects of a patient's life. Many studies have evaluated the effects of psoriasis on quality of life (QoL), but results in many cases are contradictory.

Objectives: This study was conducted to assess the relationships between the characteristics of psoriasis (cutaneous severity, arthropathy, treatment) and comorbidities with QoL and to determine which factors have a major influence. Read More

Endokrynol Pol 2014 ;65(4):320-3

We present a case of autoimmune polyglandular syndrome type III (APS III) associated with Hashimoto's disease, type 1 diabetes mellitus, vitiligo and autoimmune urticaria. This rare genetic disorder occurs with unknown frequency in the Polish population. It is characterised by endocrine tissue destruction resulting in the malfunction of multiple organs. Read More

Rev Esp Geriatr Gerontol 2014 Sep-Oct;49(5):244-5. Epub 2014 Jul 2.

Universidad Libre, Cali, Colombia.