Endocrine 2018 Jan 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

Ital J Gynaecol Obstet 2016 Sep;28(4):35-40

Division of Gynecology and Obstetrics, Maternal and Child Department, Cannizzaro Hospital, Catania, Italy.

Type III Polyglandular Autoimmune Syndrome is a multiple endocrine disorders disease determined by autoimmunity; it can be diagnosed if a patient is affected by Type 1 Diabetes Mellitus and another autoimmune disease, except Addison Disease, for example Autoimmune Hashimoto Thyroiditis or Celiac Disease. R.D. Read More

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.

Eur Rev Med Pharmacol Sci 2014 ;18(12):1717-9

Department of Clinical Medicine, Sapienza University of Rome, Rome, Italy.

Introduction: Autoimmune polyglandular syndromes (APS) are constellations of symptoms and signs of multiple glandular insufficiencies. We report a rare case of type III APS in a female patient.

Case Report: A 51-year-old woman was treated with radiotherapy because of thymus hyperplasia when she was two years old; she was diagnosed with celiac disease and autoimmune hypothyroidism at 41 years old and with sicca syndrome and myasthenia gravis seronegative a few years later. Read More

Endocr Pract 2014 Oct;20(10):e183-6

Department of Endocrinology, Cairns Hospital, Cairns, Australia.

Objective: To report a case of nonischemic dilated cardiomyopathy associated with autoimmune polyglandular syndrome (APS) type III.

Methods: A review of our patient's medical records was undertaken, and her clinical history, investigations, and outcome are described. In addition, a literature review of nonischemic dilated cardiomyopathy occurring in association with autoimmune polyendocrinopathies was performed. Read More

Endocrinol Metab (Seoul) 2013 Sep 13;28(3):236-40. Epub 2013 Sep 13.

Department of Internal Medicine, Keimyung University School of Medicine, Daegu, Korea.

Polyglandular autoimmune syndrome is defined as multiple endocrine gland insufficiencies accompanied by autoimmune diseases of the endocrine and nonendocrine system. After Schmidt introduced a case of nontuberculosis adrenal gland dysfunction with thyroiditis in 1926, Neufeld defined polyglandular autoimmune syndrome by I, II, and III subtypes in 1980 by their presentation of occurrence age, heredity methods, relationship with human leukocyte antigen, and accompanying diseases. We report a case of a 32-year-old female with polyglandular autoimmune syndrome III accompanied by type 1 diabetes mellitus that was treated with insulin (36 units per day) for 11 years. Read More

J Clin Endocrinol Metab 2014 Jan 20;99(1):E177-82. Epub 2013 Dec 20.

Laboratory of Immunogenetics/HLA (B.K.F., C.W.), German Red Cross Blood Service West, Bad Kreuznach 55543, Germany; Molecular Thyroid Research Laboratory (N.M., G.J.K.), Johannes Gutenberg University Medical Center, Mainz 55101, Germany; Bioinformatics Unit (T.A.) and Center for Transfusion Medicine (J.B.), German Red Cross Blood Service West, Hagen 58097, Germany.

Background: Genetics of the adult autoimmune polyglandular syndrome (APS) is poorly understood.

Aim: The aim of this study was to gain further insight into the genetics of the adult APS types. SITE: The study was conducted at a university referral center. Read More

Intern Med 2013 ;52(12):1375-8

Department of Diabetes and Endocrinology, Wakayama Medical Center Japanese Red Cross Society, Japan.

A 42-year-old woman with a history of idiopathic portal hypertension (IPH) developed type 1A diabetes and was found to have chronic thyroiditis. The concurrence of IPH and type 1A diabetes has been previously reported in only one case. This is the second known case, and our patient was classified as having autoimmune polyglandular syndrome (APS) III. Read More

Ann Agric Environ Med 2013 ;20(1):140-6

Department of Paediatric Endocrinology and Diabetology, Medical University, Lublin, Poland.

Introduction: Type III Polyglandular Autoimmune Syndrome (PAS III) is composed of autoimmune thyroid diseases associated with endocrinopathy other than adrenal insufficiency. This syndrome is associated with organ-specific and organ-nonspecific or systemic autoimmune diseases. The frequency of PAS syndromes in diabetic children is unknown. Read More

Vnitr Lek 2012 Jun;58(6):473-6

III. interní - kardiologická klinika 3. lékarské fakulty UK a FN Královské Vinohrady Praha.

In many endocrine diseases we can find a heart disorder. We present a case of a young patient aged 34 years, who was examined for non-specific ST-T abnormalities on ECG and a new-diagnosed left ventricle dysfunction with suspicion to the acute coronary syndroma. However, this diagnosis wasn't verified. Read More

J Assoc Physicians India 2011 Nov;59:729-31

Department of Endocrinology, Gauhati Medical College, Guwahati, 781032, India.

Autoimmune polyglandular syndromes (APS) comprise a wide clinical spectrum of autoimmune disorders. APS is divided into Type I, Type II, Type I and Type IV depending upon the pattern of disease combination. Ghronic diarrhoea is one of the many manifestations of APS and many aetiological factors have been suggested for it. Read More

Dtsch Med Wochenschr 2012 May 27;137(19):997-8. Epub 2012 Apr 27.

Medizinische Klinik und Poliklinik III, Universitätsklinikum Gießen und Marburg GmbH, Standort Gießen.

Pediatr Blood Cancer 2012 Aug 12;59(2):341. Epub 2011 Oct 12.

Ann Endocrinol (Paris) 2011 Jun 8;72(3):232-8. Epub 2011 Jun 8.

Immunology Department, Habib Bourguiba Hospital, University of Sfax, Tunisia.

Objectives: The aim of our study was to investigate the association of HLA-DRB1 and HLA-DQB1 alleles with autoimmune polyglandular syndromes (APS) type II and III in a southern Tunisian population.

Patients And Methods: Sixty-two unrelated patients with APSII (n=20) and APSIII (n=42) and 146 healthy controls were genotyped for HLA class II alleles (DRB1*, DQB1*) by PCR-SSP technique.

Results: An increased frequencies of HLA-DQB1*03:02 (P=0,02; OR=2. Read More

Eur J Immunol 2011 Apr 14;41(4):1120-31. Epub 2011 Mar 14.

San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.

Mutations of forkhead box p3 (FOXP3), the master gene for naturally occurring regulatory T cells (nTregs), are responsible for the impaired function of nTregs, resulting in an autoimmune disease known as the immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. The relevance of other peripheral tolerance mechanisms, such as the presence and function of type 1 regulatory T (Tr1) cells, the major adaptive IL-10-producing Treg subset, in patients with IPEX syndrome remains to be clarified. FOXP3(mutated) Tr1-polarized cells, differentiated in vitro from CD4(+) T cells of four IPEX patients, were enriched in IL-10(+) IL-4(-) IFN-γ(+) T cells, a cytokine production profile specific for Tr1 cells, and expressed low levels of FOXP3 and high levels of Granzyme-B. Read More

Intern Med 2010 15;49(18):1987-90. Epub 2010 Sep 15.

Department of Internal Medicine, Mishuku Hospital, Tokyo.

We report a case of type 1 diabetes onset and recurrence of Graves' disease during pegylated interferon (PEG-IFN)-alpha plus ribavirin treatment for chronic hepatitis C. The patient was a 55-year-old woman diagnosed with chronic hepatitis at age 46 years. She was treated for Graves' disease at 50 years of age. Read More

Mitochondrion 2009 Apr 21;9(2):123-9. Epub 2009 Jan 21.

Child Neurology and Psychiatry Unit, Institute of Child Health IRCCS, Burlo Garofolo, Via dell'Istria 65/1, 34137 Trieste, Italy.

We report a 12-year-old patient with growth retardation, exercise intolerance, lactic acidosis (increasing after exercise) and autoimmune polyendocrinopathy type 2. Muscle biopsy shows abundant COX-negative fibers, subsarcolemmal mitochondrial aggregates and markedly reduced activities of all respiratory chain complexes. Genetic analysis identified two new cosegregating mutations in Met-tRNA (m. Read More

Eur J Endocrinol 2009 Jul 1;161(1):11-20. Epub 2009 May 1.

Department of Medicine I, Gutenberg University Medical Centre, Mainz 55101, Germany.

The polyglandular autoimmune syndromes (PAS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (PAS type I) and a relatively common adult type with (PAS II) or without adrenal failure (PAS III). First clinical manifestation of PAS I usually occurs in childhood, whereas PAS II mostly occurs during the third and fourth decades. PAS I is caused by mutations in the autoimmune regulatory (AIRE) gene on chromosome 21 and is inherited in an autosomal recessive manner. Read More

Med Klin (Munich) 2009 Mar 1;104(3):183-91. Epub 2009 Apr 1.

Klinik für Innere Medizin III, Universitätsklinikum Jena, Jena.

Background And Purpose: The aim of this study was to examine the prevalence of autoimmune antibodies (autoimmune hypophysitis, adrenalitis, thyropathy, pernicious anemia, celiac disease) and clinically relevant endocrine autoimmune disease (AIEK) in patients with type 1 diabetes in the course of 1 year.

Patients And Methods: Antibody screening was performed in 139 diabetic patients (age 44 +/- 14 years; years since diagnosis 26 +/- 15 years; duration of diabetes 18 +/- 12 years; body mass index 26 +/- 4 kg/m(2); HbA(1c) 7.5% +/- 1. Read More

Inflamm Bowel Dis 2010 Jan;16(1):10-1

Cas Lek Cesk 2007 ;146(3):256-61

Ustav imunologie a mikrobiologie 1. LF UK a VFN, Praha.

Background: Autoimmune thyropathies belong to the most frequently occurring autoimmune endocrinopathies. Autoimmune thyropathies occur either independently or linked to known polyglandular syndromes of type I-III.

Methods And Results: During the last decade, we observed a group of patients with autoimmune thyroiditis, in which autoimmune endocrinopathies were mutually associated and named the symptoms of this group "polyglandular activation of autoimmunity". Read More

Lik Sprava 2006 Jul-Sep(5-6):67-8

Autoimmune polyglandular thyroiditis case of type III syndrome is represented in the article along with physical, laboratory and instrumental data. Read More

Endocr J 2006 Oct 1;53(5):705-9. Epub 2006 Sep 1.

Department of Molecular and Internal Medicine, Graduate School Biomedical Sciences, Hiroshima University, Kasumi, Hiroshima, Japan.

A 58-year-old woman complaining of finger tremor was referred to our hospital. The diagnosis of Graves' disease was made based on increased free triiodothyronine (18.88 pg/ml) and free thyroxine (7. Read More

Immunol Lett 2006 Aug 28;106(2):172-9. Epub 2006 Jul 28.

Department of Internal Medicine III, Johannes-Gutenberg University Mainz, Obere Zahlbacherstr 63, 55131 Mainz, Germany.

Defects in the autoimmune regulator (AIRE) gene cause the monogenic autoimmune disease autoimmune polyendocrinopathy syndrome type 1 (APS-1), which is characterized by a loss of self-tolerance to multiple organs. In concordance with its role in immune tolerance, AIRE is strongly expressed in medullary thymic epithelial cells (mTECs). Data on mechanisms controlling AIRE activation and the expression of this gene in other tissues are fragmentary and controversial. Read More

PLoS Med 2006 Jul;3(7):e289

Biotherapeutics, National Institute for Biological Standards and Control, South Mimms, United Kingdom.

Background: The autoimmune regulator (AIRE) gene influences thymic self-tolerance induction. In autoimmune polyendocrinopathy syndrome type 1 (APS1; OMIM 240300), recessive AIRE mutations lead to autoimmunity targetting endocrine and other epithelial tissues, although chronic candidiasis usually appears first. Autoimmunity and chronic candidiasis can associate with thymomas as well. Read More

Scand J Rheumatol 2006 Jan-Feb;35(1):81-2

Horm Res 2005 27;64(5):253-60. Epub 2005 Oct 27.

Department of Endocrinology, Metabolism and Nephrology, Kochi Medical School, Kochi University, Nankoku, Japan.

Background: It has been reported that HLA class II haplotypes DRB1*0405-DQA1*0303-DQB1*0401 and DRB1*0901-DQA1*0302-DQB1*0303 are major susceptibility haplotypes for type 1 diabetes mellitus (DM) in Japanese population. However, little has been reported on the susceptibility HLA class II haplotypes in Japanese patients with autoimmune polyglandular syndrome type II and type III (APS III).

Patients And Methods: HLA class II haplotypes of DRB1-DQA1-DQB1 in 31 patients with APS III, 14 patients with Hashimoto's thyroiditis alone, and 15 patients with Graves' disease alone were examined in Japanese population. Read More

BMC Gastroenterol 2005 Aug 15;5:27. Epub 2005 Aug 15.

Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014 (UP), India.

Background: Autoimmune hepatitis (AIH) has been reported to show considerable geographical variation in frequency and clinical manifestations. It is considered a rare cause of liver disease in India. The present study was undertaken to determine the incidence, clinical, biochemical and histological profile of AIH in this part of the world. Read More

Internist (Berl) 2005 Jun;46(6):690-4

Funktionsbereich Endokrinologie und Stoffwechselerkrankungen, Klinik für Innere Medizin III, Universitätsklinikum Jena.

The occurrence of both autoimmune endocrinopathies and endocrinopathies caused by other reasons is called polyglandular autoimmune syndrome (PAS-syndrome). In a 34 years old man with weakness, weight loss and erectile dysfunction we found low cortisol caused by an autoimmune adrenalitis and low testosterone caused by a hypophysitis with impaired gonadotropin secretion. Thyroid autoantibodies and islet cell autoantibodies without any hormone deficiencies were further signs of a broad endocrine autoimmune syndrome. Read More

Intern Med 2004 Dec;43(12):1183-5

Department of Endocrinology, Aomori Prefectural Central Hospital, Aomori.

A 81-year-old woman was diagnosed as having diabetes mellitus (DM) at 58 years of age. She started insulin therapy the following year, but her blood sugar levels were poorly controlled. At the age of 75, she tested positive for the anti-GAD antibody (7. Read More

Gynecol Endocrinol 2004 Jul;19(1):47-50

Department of Endocrinology and Metabolism, Dicle University, School of Medicine, Diyarbakir, Turkey.

We identified polyglandular autoimmune (PGA) syndrome type III in a 24-year-old nurse with common variable immunodeficiency (CVID). An immune-mediated disorder, membranoproliferative glomerulonephritis, was diagnosed when she was 15 years old. Clinical examination and laboratory findings revealed a PGA syndrome due to the presence of hypergonadotropic hypogonadism, insufficient growth hormone response and thyroid autoimmunity. Read More

Acta Clin Belg 2004 Jul-Aug;59(4):225-8

Division of Endocrinology and Metabolism, Faculty of Medicine, University of Trakya, Edirne, Turkey.

Autoimmune polyglandular syndrome is characterized by the coexistence of several autoimmune diseases, affecting predominantly the endocrine glands. Autoimmune polyglandular syndrome type III, as a subdivision of autoimmune polyglandular syndrome type II, is the co-occurrence of autoimmune thyroid disease with other autoimmune disorders without Addison disease. We present a rare case of autoimmune polyglandular syndrome type III in monozygotic twins. Read More

J Exp Med 2004 May 26;199(9):1285-91. Epub 2004 Apr 26.

Department of Medicine III, Institute for Clinical Immunology and Rheumatology, University of Erlangen-Nuremberg, Germany.

In autoimmune polyglandular syndromes (APS), several organ-specific autoimmune diseases are clustered. Although APS type I is caused by loss of central tolerance, the etiology of APS type II (APS-II) is currently unknown. However, in several murine models, depletion of CD4(+) CD25(+) regulatory T cells (T(regs)) causes a syndrome resembling human APS-II with multiple endocrinopathies. Read More

J Endocrinol Invest 2003 Nov;26(11):1160-1

J Womens Health (Larchmt) 2003 Jun;12(5):513-20

Department of Obstetrics and Gynecology, Texas Tech University Health Science Center, Amarillo, Texas 79106, USA.

Background: Autoimmune polyglandular syndromes (APS) are a series of disorders characterized by autoimmunity against two or more endocrine organs. Premature ovarian failure (POF) may also have an autoimmune origin and, when accompanied by other autoimmune endocrinopathies, may be part of the APSs. Onset of autoimmune ovarian failure usually occurs in childhood, adolescence, or adulthood, and as a result, fertility may be severely compromised. Read More

Horm Metab Res 2003 Feb;35(2):120-4

Department of Internal Medicine II, Klinikum Erfurt GmbH, Erlangen, Germany.

No significant differences were reported for the frequency of DR3-DQ2 and DR4-DQ8 haplotypes in a recent study of one of the largest cohorts worldwide of patients with isolated Addison's disease compared to patients with APS II. However, previous studies had suggested that the HLA-DQ genes, especially DQA1*0102, may be a genetic marker for resistance to autoimmune thyroid disease, which is the most frequent disease in APS II or III. Until now, HLA-DQA1 alleles have not been systematically investigated in APS. Read More

Clin Neurol Neurosurg 2003 Apr;105(2):102-4

Department of Neurology, Medical Faculty of Karadeniz Technical University, Trabzon 61080, Turkey.

We present a 33 year-old man, admitted because of transient deterioration of visual acuity. Magnetic resonance imaging showed diffuse central nervous system (CNS) demyelination, which largely resolved spontaneously within 4 months. The patient fulfilled the diagnostic criteria of APS type III, having autoimmune thyroiditis and alopecia universalis. Read More

Rev Med Liege 2002 Nov;57(11):710-4

Endocrinologie à la Faculté de Médecine, Chef du Service d'Endocrinologie du CHU de Liège.

As a complement to basic research, thorough clinical investigation of rare diseases may provide fundamental elements which improve our understanding of still obscure pathophysiologic mechanisms. This is the case with immunoendocrinopathy syndromes. Since Addison's pioneer observations in the 19th century, physicians have known that some individuals and their families may be affected by several spontaneous endocrine insufficiencies that are associated with autoimmune extra-endocrine processes. Read More