1,482 results match your criteria Polyglandular Autoimmune Syndrome Type II

Clinical Profile of Addison's Disease in a Tertiary Care Institute, Southern India - The Changing Landscape.

Indian J Endocrinol Metab 2022 Jan-Feb;26(1):50-54. Epub 2022 Apr 27.

Department of Endocrinology, Madurai Medical College, Madurai, Tamil Nadu, India.

Aims And Objectives: Clinical, biochemical, and radiological profiles of Addison's disease and to assess the various etiological spectrum of primary adrenal insufficiency (PAI) in adults.

Materials And Methods: A retrospective cohort study was carried out in the Department of Endocrinology, Madurai Medical College, Madurai between January 2014 and January 2021 over a 7-year period.

Inclusion Criteria: All the patients with clinical symptoms and or signs of suspected PAI, such as hyperpigmentation, weight loss, persistent nausea or vomiting, fatigue, and hypotension, were recruited. Read More

View Article and Full-Text PDF

[Two children of autoimmune enteropathy].

Zhonghua Er Ke Za Zhi 2022 Jun;60(6):596-597

Department of Pathology, Peking University Third Hospital, Beijing 100081, China.

View Article and Full-Text PDF

Adolescent onset of autoimmune polyglandular syndrome type 2.

BMJ Case Rep 2022 May 20;15(5). Epub 2022 May 20.

Department of Paediatrics, Midland Regional Hospital, Mullingar, Westmeath, Ireland

An adolescent female was evaluated for fatigue, anorexia and unintentional weight loss of 7 kg. Initial investigations revealed subclinical autoimmune thyroid dysfunction, which progressed to overt hypothyroidism necessitating thyroxine replacement. She had entered early puberty, but this did not appear to be progressing. Read More

View Article and Full-Text PDF

Alopecia Areata Universalis in the Onset of Autoimmune Polyendocrine Syndrome Type III C.

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

View Article and Full-Text PDF

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

Eur J Endocrinol 2022 May 24;187(1):111-122. Epub 2022 May 24.

Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, UK.

Objective: The autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disorder characterised by immune dysregulation and autoimmune endocrine gland destruction. APS-1 is caused by biallelic mutations affecting the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which facilitates immunological self-tolerance. Read More

View Article and Full-Text PDF

[Type 1 diabetes mellitus and Graves Basedow's disease, a case of Autoimmune Polyglandular Syndrome].

Andes Pediatr 2021 Dec 5;92(6):911-916. Epub 2021 Nov 5.

Hospital Luis Calvo Mackenna, Santiago, Chile.

Introduction: Type 1 diabetes mellitus (T1DM) is one of the most frequent autoimmune diseases in childhood. Its diagnosis requires the search for other autoimmune diseases.

Objective: to present the case of a pediatric patient with two rare concomitant autoimmune endocrine diseases. Read More

View Article and Full-Text PDF
December 2021

Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.

Genes (Basel) 2022 03 22;13(4). Epub 2022 Mar 22.

Department of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, Croatia.

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator () gene characterized by complex phenotypic characteristics discovered over years of follow-up.

Methods: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for R257X mutations. Read More

View Article and Full-Text PDF

Case Report: "Primary Immunodeficiency"-Severe Autoimmune Enteropathy in a Pediatric Heart Transplant Recipient Treated With Abatacept and Alemtuzumab.

Front Immunol 2022 5;13:863218. Epub 2022 Apr 5.

Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO, United States.

Disorders of immune dysregulation following heart transplantation in children have been reported; however, the management of such disorders remains uncertain and challenging. In this case report, we describe a clinical course of a child with severe autoimmune enteropathy after a heart transplant in infancy and detail a treatment approach with abatacept and alemtuzumab. A 21-month-old girl with a medical history of congenital dilated cardiomyopathy and heart transplantation at 2 months was evaluated for chronic hematochezia. Read More

View Article and Full-Text PDF

Generation and Characterization of iPS Cells Derived from APECED Patients for Gene Correction.

Front Endocrinol (Lausanne) 2022 1;13:794327. Epub 2022 Apr 1.

Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

APECED (Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy) is a severe and incurable multiorgan autoimmune disease caused by mutations in the (autoimmune regulator) gene. Without functional AIRE, the development of central and peripheral immune tolerance is severely impaired allowing the accumulation of autoreactive immune cells in the periphery. This leads to multiple endocrine and non-endocrine autoimmune disorders and mucocutaneous candidiasis in APECED patients. Read More

View Article and Full-Text PDF

[The efficacy of alemtuzumab for pure red cell aplasia associated with autoimmune polyendocrine syndrome type 1].

Rinsho Ketsueki 2022 ;63(3):189-193

Department of Hematology, NTT Medical Center Tokyo.

We present a case of a 41-year-old woman who was diagnosed with autoimmune polyendocrine syndrome type 1 (APS-1) at the age of 2. She developed severe anemia and was diagnosed with pure red cell aplasia (PRCA) and T-cell large granular lymphocyte leukemia at the age of 34. The pathogenesis of APS-1 is based on the presence of an inactive mutation in the autoimmune regulator gene on thymic medullary epithelial cells. Read More

View Article and Full-Text PDF

Autoimmune polyglandular syndrome type 2 in an HIV-positive man managed at the University Teaching Hospitals Lusaka, Zambia: a case report.

Pan Afr Med J 2022 12;41:31. Epub 2022 Jan 12.

University Teaching Hospitals, Department Of Medicine, Endocrine Unit, Lusaka, Zambia.

Autoimmune polyglandular syndromes (APS) are rare autoimmune endocrinopathies characterized by the coexistence of at least two endocrine gland insufficiencies developed from autoimmune mechanisms. APS may also be associated with non-endocrine immune diseases. In HIV infection, antiretroviral therapy can improve the quality of life to reduce the incidence of opportunistic infections, malignancies, and death. Read More

View Article and Full-Text PDF

Case Report: Onset of Type 1 Diabetes Mellitus in a Patient With Ulcerative Colitis and Sjogren's Syndrome Under Euthyroid Hashimoto's Thyroiditis.

Front Endocrinol (Lausanne) 2022 17;13:836102. Epub 2022 Mar 17.

Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, Kurashiki, Japan.

Type 1 diabetes mellitus (T1DM) is often complicated with some other autoimmune disorders. The complication of various autoimmune disorders is known as autoimmune polyglandular syndrome (APS). Once autoimmune thyroid disease develops, various autoimmune diseases can also occur. Read More

View Article and Full-Text PDF

Prevalence of APECED-Like Clinical Disease in an Electronic Health Record Database, USA.

J Clin Immunol 2022 May 21;42(4):904-906. Epub 2022 Mar 21.

Fungal Pathogenesis Section, LCIM, NIAID, NIH, Bethesda, MD, USA.

View Article and Full-Text PDF

Polyendocrine Autoimmunity and Diabetic Ketoacidosis Following Anti-PD-1 and Interferon α.

Pediatrics 2022 04;149(4)

Divisions of Pediatric Endocrinology.

Immune checkpoint inhibitor (ICI) therapies are now first-line therapy for many advanced malignancies in adults, with emerging use in children. With increasing ICI use, prompt recognition and optimal management of ICI-associated immune-related adverse events (IRAEs) are critical. Nearly 60% of ICI-treated adults develop IRAEs, which commonly manifest as autoimmune skin, gastrointestinal, and endocrine disease and can be life-threatening. Read More

View Article and Full-Text PDF

Why do people die from COVID-19?

Paul Bastard

Science 2022 02 24;375(6583):829-830. Epub 2022 Feb 24.

Laboratory of Human Genetics of Infectious Diseases, Imagine Institute, University of Paris and INSERM U1163, Paris, France.

Autoantibodies that neutralize type I interferons increase with age. Read More

View Article and Full-Text PDF
February 2022

The genetics of pediatric cutaneous autoimmunity: The sister diseases vitiligo and alopecia areata.

Clin Dermatol 2022 Feb 17. Epub 2022 Feb 17.

Department of Dermatology and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address:

Autoimmunity, the reaction of the host against self, is a complex pattern of immunologic response that allows the immune system to react to "normal" tissue. Many such diseases exist in the skin, but in particular, two stand out as visible manifestations of autoimmune cutaneous attack. These are vitiligo, the immune attack on the melanocyte, and alopecia areata, the immune attack of the hair unit. Read More

View Article and Full-Text PDF
February 2022

Oral manifestations of autoimmune polyglandular syndrome type 1.

Spec Care Dentist 2022 Feb 19. Epub 2022 Feb 19.

Department of Stomatology, Special Care Dentistry Center, University of São Paulo, São Paulo, Brazil.

Aims: Autoimmune polyglandular syndrome type I (APS-I) is a rare condition of autosomal recessive and monogenic inheritance, which is characterized clinically by at least two signs of the classic triad: mucocutaneous candidosis, hypoparathyroidism, and Addison's disease. This study aims to report the oral manifestations of APS-I in a 42-year-old woman, who attended the Special Care Dentistry Center.

Methods And Results: The patient presented with hypoparathyroidism, diabetes mellitus, and autoimmune hepatitis. Read More

View Article and Full-Text PDF
February 2022

Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II.

Hormones (Athens) 2022 Jun 19;21(2):317-322. Epub 2022 Feb 19.

Faculty of Health and Medical Research, Copenhagen University, Copenhagen, Denmark.

Background: Autoimmune disease, including autoimmune thyroid disease, with uncharacteristic symptoms can be due to additional severe disease. We report a life-threatening debut of autoimmune polyglandular syndrome type II (APS II) defined as Addison's disease combined with autoimmune diabetes and/or thyroid disease.

Patient Findings: A 33-year-old male with newly diagnosed hypothyroidism was referred to a tertiary center due to fatigue and 20-kg rapid weight loss. Read More

View Article and Full-Text PDF

Clinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study.

J Pediatr Endocrinol Metab 2022 Apr 16;35(4):477-480. Epub 2022 Feb 16.

Pediatric Endocrinology Diabetes and Growth Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.

Objectives: Polyglandular autoimmune syndromes (PAS) are characterized by the association of two or more autoimmune diseases (AID) and are classified into four types. PAS type 1 is more frequently manifested in childhood, but the prevalence of other PAS in children, less described in the literature, seems to be underestimated.

Methods: This study aimed to evaluate the prevalence of PAS in a selected pediatric population of 879 children with Diabetes mellitus type 1 (DM1), autoimmune thyroid disease (AITD), and Addison's disease (AD) followed in our hospital for 10 years and describe and classify the manifestations of different PAS. Read More

View Article and Full-Text PDF

Anti-CD45RC antibody immunotherapy prevents and treats experimental autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

J Clin Invest 2022 04;132(7)

Université de Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, Institut de Transplantation Urologie-Néphrologie, Nantes, France.

Targeted monoclonal antibody (mAb) therapies show great promise for the treatment of transplant rejection and autoimmune diseases by inducing more specific immunomodulatory effects than broadly immunosuppressive drugs routinely used. We recently described the therapeutic advantage of targeting CD45RC, expressed at high levels by conventional T (Tconv) cells (CD45RChi), their precursors, and terminally differentiated T (TEMRA) cells, but not by regulatory T cells (Tregs; CD45RClo/-). We demonstrated efficacy of anti-CD45RC mAb treatment in transplantation, but its potential has not been examined in autoimmune diseases. Read More

View Article and Full-Text PDF

A Case Report of Fatal Mucormycosis in a 30-Year-Old Patient with Autoimmune Polyendocrine Syndrome Type 1.

J Clin Immunol 2022 May 10;42(4):863-865. Epub 2022 Feb 10.

Fungal Pathogenesis Section, Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

View Article and Full-Text PDF

Pathogenic TNF-α drives peripheral nerve inflammation in an Aire-deficient model of autoimmunity.

Proc Natl Acad Sci U S A 2022 01;119(4)

Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;

Immune cells infiltrate the peripheral nervous system (PNS) after injury and with autoimmunity, but their net effect is divergent. After injury, immune cells are reparative, while in inflammatory neuropathies (e.g. Read More

View Article and Full-Text PDF
January 2022

Rituximab as Maintenance Therapy in Type 1 Autoimmune Pancreatitis: An Italian Experience.

Pancreas 2021 Nov-Dec 01;50(10):1363-1367

From the Department of Medicine, Pancreas Institute, University of Verona, G.B. Rossi University Hospital, Verona, Italy.

Objective: Rituximab (RTX) has been proposed for the induction of remission and maintenance therapy in relapsing type 1 autoimmune pancreatitis (AIP). The aim of the study was to describe the use of RTX as maintenance therapy for patients with type 1 AIP.

Methods: Patients with type 1 AIP based on the International Consensus Diagnostic Criteria and treated with RTX were selected from our database. Read More

View Article and Full-Text PDF

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.

Orphanet J Rare Dis 2022 01 6;17(1):10. Epub 2022 Jan 6.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Objective: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disorder is estimated at 1/90,000-200,000 worldwide and 1/6500-9000 in genetically isolated populations such as Iran. Here, we investigated AIRE gene mutations in eight independent Iranian non-Jewish families. Read More

View Article and Full-Text PDF
January 2022

Cepharanthine Blocks Presentation of Thyroid and Islet Peptides in a Novel Humanized Autoimmune Diabetes and Thyroiditis Mouse Model.

Front Immunol 2021 20;12:796552. Epub 2021 Dec 20.

The Fleischer Institute for Diabetes and Metabolism, Department of Medicine, Albert Einstein College of Medicine, New York, NY, United States.

Autoimmune polyglandular syndrome type 3 variant (APS3v) refers to an autoimmune condition in which both type 1 diabetes (T1D) and autoimmune thyroiditis (AITD) develop in the same individual. HLA-DR3 confers the strongest susceptibility to APS3v. Previously we reported a unique amino acid signature pocket that predisposes to APS3v. Read More

View Article and Full-Text PDF
February 2022

Successful Pregnancy Outcome in a Lady with Polyglandular Autoimmune Syndrome Type II.

J Coll Physicians Surg Pak 2022 Jan;32(1):102-104

Department of Obstetrics and Gynaecology, Wrexham Maelar Hospital, Betsi Cadwaladr University Health Board, North Wales, United Kingdom.

We report a case of a lady who had polyglandular autoimmune syndrome type II (hypothyroidism, Addison's disease, vitiligo), who completed a successful pregnancy. Addison's disease (AD) was confirmed by the presence of anti-adrenal antibodies and hyponatremia. The patient had pre-pregnancy counselling about the need of antepartum, intrapartum and postpartum steroids. Read More

View Article and Full-Text PDF
January 2022

Autoimmune polyglandular syndrome type II presenting as subacute combined degeneration of spinal cord: a neuroendocrinology crossroad.

Rom J Intern Med 2022 Jun 14;60(2):123-126. Epub 2022 Jun 14.

Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi, India, PIN-110095.

Autoimmune polyglandular syndrome (APS) is a condition having multiple endocrine abnormalities. It is divided into three types depending on the involvement of various endocrinopathies. It is also associated with other systemic involvement. Read More

View Article and Full-Text PDF

Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.

Cells 2021 12 10;10(12). Epub 2021 Dec 10.

Human Genetics Group, Spanish National Cancer Research Center (CNIO), 28029 Madrid, Spain.

Autoimmune polyendocrine syndrome (APS) is assumed to involve an immune system malfunction and entails several autoimmune diseases co-occurring in different tissues of the same patient; however, they are orphans of its accurate diagnosis, as its genetic basis and pathogenic mechanism are not understood. Our previous studies uncovered alterations in the ATPase H+/K+ Transporting Subunit Alpha (ATP4A) proton pump that triggered an internal cell acid-base imbalance, offering an autoimmune scenario for atrophic gastritis and gastric neuroendocrine tumors with secondary autoimmune pathologies. Here, we propose the genetic exploration of APS involving gastric disease to understand the underlying pathogenic mechanism of the polyautoimmune scenario. Read More

View Article and Full-Text PDF
December 2021

Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1).

Front Endocrinol (Lausanne) 2021 30;12:784195. Epub 2021 Nov 30.

Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

Objective: In autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) defects in the autoimmune regulator gene lead to impaired immunotolerance. We explored the effects of immunodeficiency and endocrinopathies on gynecologic health in patients with APECED.

Design: Cross-sectional cohort study combined with longitudinal follow-up data. Read More

View Article and Full-Text PDF
February 2022

Calculation of Similarity Between 26 Autoimmune Diseases Based on Three Measurements Including Network, Function, and Semantics.

Front Genet 2021 11;12:758041. Epub 2021 Nov 11.

College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, China.

Autoimmune diseases (ADs) are a broad range of diseases in which the immune response to self-antigens causes damage or disorder of tissues, and the genetic susceptibility is regarded as the key etiology of ADs. Accumulating evidence has suggested that there are certain commonalities among different ADs. However, the theoretical research about similarity between ADs is still limited. Read More

View Article and Full-Text PDF
November 2021