1,232 results match your criteria: "Polyglandular Autoimmune Syndrome Type I"
Co-existence of autoimmune polyglandular syndrome type 3b and undifferentiated connective tissue disease with subacute combined degeneration of spinal cord in children: a case report and literature review.
BMC Pediatr
December 2024
Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Background: The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Notably, some SCD patients may be complicated with autoimmune diseases, leading to high early misdiagnosis and missed diagnosis rates.
Case Presentation: In this study, a case involving an adolescent female with repetitive severe anemia, multiple joint swelling and pain in the left limbs, and paralysis of the bilateral lower limbs with serum vitamin B12 deficiency, polyglandular involvement, and various positive auto-antibodies (anti‑intrinsic factor antibody, anti‑parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti‑neutrophil cytoplasmic antibody) is reported.
A novel mutation in autoimmune polyglandular syndrome type 1 with erythematous facial papules.
Indian J Dermatol Venereol Leprol
November 2024
Department of Paediatric Dermatology, Institute of Child Health, Kolkata, India.
Autoimmune Disease is Increased in Women with Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
November 2024
Division of Endocrinology, Metabolism and Diabetes, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84112.
Article Synopsis
- - Researchers studied the link between autoimmune diseases and women with primary ovarian insufficiency (POI) using health records from Utah, finding that 25% of POI women had at least one autoimmune condition.
- - Women with POI showed significantly higher risks for several autoimmune diseases, with conditions like autoimmune hypothyroidism and vitiligo being particularly prevalent compared to the general population.
- - Interestingly, the study found no increased risk of autoimmune diseases in the family members of women with POI, suggesting environmental factors might play a role rather than genetic inheritance.
The Putative Role of Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.
Int J Mol Sci
October 2024
Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
Article Synopsis
- * A study on a 16-year-old female patient with APS3A/B used whole-exome sequencing to uncover two genetic variants in the TIM-3 protein that may affect her autoimmune response and overall health.
- * Additional analyses revealed that, despite similar TIM-3 fluorescence levels to healthy donors, the patient exhibited decreased TIM-3 expression, and unique mutations were found in her compared to a cohort of APS patients, highlighting the potential for new genetic insights in APS classification.
[Autoimmune Polyglandular Syndrome type 2: case report].
Rev Esp Geriatr Gerontol
October 2024
Complejo Hospitalario Universitario de Ourense, Ourense, España.
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
PLoS One
October 2024
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.
Article Synopsis
- * Genetic analysis using trio-based exome sequencing found benign variants of the AIRE gene in all participants, which helped differentiate AAI and exclude APS type 1.
- * The study recommends whole genome analysis in future research to discover genetic predictors of autoimmune diseases, after identifying risk alleles in patients and noting the prevalence of specific haplotypes in healthy individuals.
Schmidt´s syndrome found by tan: a case report.
Pan Afr Med J
September 2024
Internal Medicine Department, Centro Hospitalar Tondela Viseu, Viseu, Portugal.
Article Synopsis
- A 41-year-old woman with hypothyroidism and vitiligo experienced worsening fatigue, anorexia, nausea, and weight loss, leading her to the emergency department.
- Physical examination showed significant skin changes, including hyperpigmentation and vitiligo, prompting further tests that revealed low cortisol levels and high ACTH, indicating Addison’s disease.
- The patient was treated successfully with prednisolone and fludrocortisone, highlighting the importance of recognizing Addison’s disease and screening for related autoimmune disorders.
Decreased T-cell response against latent cytomegalovirus infection does not correlate with anti-IFN autoantibodies in patients with APECED.
APMIS
November 2024
Translational Immunology Research Program, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- APECED is a genetic immune disorder that affects various hormone-producing glands and increases vulnerability to candidiasis, with recent findings linking it to more severe COVID-19 and varicella infections.
- In a study comparing APECED patients and healthy individuals, a higher percentage of APECED patients had anti-CMV IgG antibodies, although their antibody levels weren't significantly different from controls.
- However, APECED patients showed lower levels of CMV-specific T cells, indicating a weakened immune response to CMV and solidifying the idea that APECED is associated with greater vulnerability to viral infections.
Late-onset Schmidt's Syndrome Presenting with Severe Hyponatremia: A Case Report.
Endocr Metab Immune Disord Drug Targets
July 2024
Unit of Endocrinology, Ospedale Niguarda Ca' Granda, 20162 Milan, Italy.
Article Synopsis
- - Schmidt's syndrome (SS) is an autoimmune condition that often occurs in young women, where autoimmune thyroiditis (AIT) and autoimmune Addison's disease (aAD) co-occur, sometimes beginning with aAD, as seen in this rare case involving a 73-year-old woman.
- - The patient arrived at the emergency department with severe symptoms, including hyponatremia (low sodium), which was linked to primary adrenal insufficiency and confirmed through hormone level tests, leading to treatment with hydrocortisone and fludrocortisone.
- - Careful management of glucocorticoids and fludrocortisone is crucial in elderly patients with heart issues to prevent complications like heart failure, and aAD
Cardiac tamponade - a rare cause of sudden death in autoimmune polyglandular syndrome.
Forensic Sci Med Pathol
June 2024
Adelaide Medical School, The University of Adelaide, Level 2, Room N237, Frome Road, Adelaide, South Australia, 5005, Australia.
Article Synopsis
- * His medical history included primary Addison disease and autoimmune hypothyroidism, confirmed during autopsy.
- * The autopsy revealed extensive fibrinous pericarditis with a significant amount of fluid in the pericardial sac, highlighting a rare but serious complication of APS that can lead to sudden death.
Increased frequency of microalbuminuria in patients with type 3 autoimmune polyglandular syndrome (APS) compared to isolated autoimmune type 1 diabetes mellitus: A real-life study.
Diabetes Res Clin Pract
July 2024
Section of Endocrinology and Diabetology, Health Promotion, Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", PROMISE, University of Palermo, Italy. Electronic address:
Article Synopsis
- - The study aimed to compare metabolic control and chronic complications between patients with type 3 autoimmune polyglandular syndrome (APS3) and those with only type 1 diabetes mellitus (T1DM).
- - Researchers analyzed data from 276 T1DM patients and 214 APS3 patients, discovering that APS3 patients had earlier autoimmune thyroid disease (AIT) onset and more frequent microalbuminuria than T1DM patients.
- - Patients with APS3 who received levothyroxine treatment had better HbA1c levels, indicating improved metabolic control compared to those who were untreated.
A Silent Cause of Shock: Autoimmune Polyglandular Syndromes.
Eur J Case Rep Intern Med
May 2024
Department of Medicine, Division of Endocrinology, Morgantown, USA.
Article Synopsis
- - Addison's disease is a rare autoimmune disorder that results in the destruction of the adrenal gland and can coexist with other autoimmune diseases, leading to a condition known as autoimmune polyendocrine syndrome type II, found in 1.4-4.5 out of 100,000 people.
- - A clinical case highlighted involved a patient experiencing severe low blood pressure that didn't improve with fluid treatment, eventually diagnosed as autoimmune polyendocrine syndrome type II.
- - The key takeaway is that primary adrenal insufficiency can cause shock that is resistant to treatment, and having one autoimmune condition raises the risk of additional autoimmune diseases.
Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.
J Clin Immunol
June 2024
Children's Hospital and Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare genetic disease linked to mutations in the autoimmune regulator gene, affecting mainly endocrine organs but also showing autoantibody reactivity to brain structures.
- In a study of 44 Finnish patients with APS-1, 23% were diagnosed with neurological disorders, with migraines, CNS infections, and epilepsy being the most common conditions.
- Serum antineuronal antibodies were found in 42% of 24 tested patients, with GAD65 antibodies being prevalent, indicating a possible connection between APS-1 and neurological issues that require more research.
JAK Inhibition Immunotherapy for APS-1.
N Engl J Med
May 2024
From the Department of Microbiology, Immunology, and Molecular Genetics and the Department of Pediatrics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles.
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
N Engl J Med
May 2024
From the Fungal Pathogenesis (V.O., G.M.C., M.M.S., E.M.N.F., L.D.S.D., J.P., Y.H., T.W., B.D.S., S.D., T.D., P.B., T.J.B., M.S.L.), the Immunopathogenesis (L.B.R., A.C., S.M.H.), and Immune Deficiency Genetics (L.D.N.) Sections, Laboratory of Clinical Immunology and Microbiology, the Centralized Sequencing Program, Division of Intramural Research (B.A.S., R.G., M.W.), and the Translational Autoinflammatory Disease Section (A.R., A.A.J., R.G.-M.), National Institute of Allergy and Infectious Diseases, the Laboratory of Pathology, Center for Cancer Research (J.L.D.), National Cancer Institute (G.S., J.C.A., D.R., C.R.L., D.E.K., M.M.Q., S.P.), the Immunoregulation Section, Kidney Diseases Branch (D.K., B.A.), and the Translational Hepatology Section, Liver Diseases Branch (T.H.), National Institute of Diabetes and Digestive and Kidney Diseases, the Genomics and Computational Biology Core (D.M.), the Salivary Disorders Unit (B.M.W.), and the Oral Immunity and Inflammation Section (N.M.M.), National Institute of Dental and Craniofacial Research, the Immunology Service, Department of Laboratory Medicine (J.S., H.S.K., S.D.R.), the Pharmacy Department (B.C.), and the Critical Care Medicine Department (A.F.S.), Clinical Center, the Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (H.H.K., L.C.-S.), the Pulmonary Branch, National Heart, Lung, and Blood Institute (K.P.F., K.N.O.), and Eunice Kennedy Shriver National Institute of Child Health and Human Development (K.K.W.) - all at the National Institutes of Health, Bethesda, MD; Nantes Université, Centre Hospitalier Universitaire Nantes, INSERM, Centre de Recherche en Transplantation et Immunologie, Unité Mixte de Recherche 1064, Institut de Transplantation Urologie-Néphrologie, Nantes, France (M.B., C.G.); the Diabetes Center, University of California at San Francisco, San Francisco (M.S.A.), the Division of Infectious Diseases and the Lundquist Institute for Biomedical Innovation, Harbor-University of California, Los Angeles (UCLA), Medical Center, Torrance (M.S.), and the David Geffen School of Medicine, UCLA, Los Angeles (M.S.); Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla/Universidad de Sevilla/Consejo Superior de Investigaciones Científicas, Red de Investigación Translacional en Infectología Pediátrica (O.N., P.O.), and Departamento de Dermatología (M.T.M.-G.), Sección de Gastroenterología, Hepatología y Nutrición Pediatrica (J.V.-F.), Sección de Inmunología (J.M.L.), Sección de Endocrinología Pediátrica (A.L.G.-G.), and Sección de Nefrología Pediátrica (A.G.R.), Hospital Infantil Universitario Virgen del Rocío, and Departamento de Farmacología, Pediatría, y Radiología, Facultad de Medicina, Universidad de Sevilla (P.O.) - all in Seville, Spain; the University of Helsinki and Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki (M.R.J.S., J.L., M.H., S.L., P.K.); and the Department of Pediatrics, Institute of Clinical Sciences, and the Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden (V.L., O.E.).
Article Synopsis
- Autoimmune polyendocrine syndrome type 1 (APS-1) is a severe genetic disorder resulting from AIRE deficiency, leading to self-reactive T cells causing autoimmune damage in various organs.
- The study investigated the role of interferon-γ in APS-1 by analyzing patient samples and conducting experiments with mice, finding that high levels of interferon-γ correlate with disease activity.
- Treatment with the JAK inhibitor ruxolitinib significantly reduced interferon-γ levels and improved symptoms in APS-1 patients, suggesting that targeting this pathway may be a viable therapeutic approach.
An uncommon presentation of autoimmune polyglandular syndrome type 1 (APS-1)-A case report.
Clin Case Rep
June 2024
Family and Community Medicine Department College of Medicine, King Khalid University Abha Saudi Arabia.
Article Synopsis
- Autoimmune polyglandular syndrome type 1 (APS-1) is a rare condition characterized by a combination of at least two disorders, such as chronic hypoparathyroidism and Addison's syndrome, and can be diagnosed through genetic testing even without chronic mucocutaneous candidiasis (CMC).
- A 28-year-old female with a long history of hypoparathyroidism was diagnosed with Addison's disease after presenting with symptoms like hypogonadism and primary amenorrhea, despite a negative Synacthen test, and she received intravenous treatment during an adrenal crisis.
- The case emphasizes the importance of early diagnosis and tailored treatment for APS-1 patients to improve their quality of life and prevent serious complications, as
Autoimmune polyglandular syndrome with shock and high anion gap metabolic acidosis.
Am J Med Sci
August 2024
2nd Department of Internal Medicine, Hippokration General Hospital, Athens, Greece.
Article Synopsis
- * A 23-year-old patient with APS type 2 exhibits adrenal insufficiency, autoimmune thyroiditis, and metabolic acidosis, the latter linked to prolonged malnutrition.
- * The text also discusses key clinical features of adrenal insufficiency as a vital part of APS and points out differences among the various APS subtypes.
Association of latent autoimmune diabetes of adults with type 3 polyglandular autoimmune syndrome-a diagnostic challenge.
J Pak Med Assoc
May 2024
4th Year MBBS Student, School of Medicine, Foundation University School of Health Sciences, Islamabad, Pakistan.
Article Synopsis
- Autoimmune polyendocrine syndromes (APS) involve multiple endocrine gland insufficiencies linked to autoimmune diseases, highlighting the connection between latent autoimmune diabetes in adults (LADA) and type 3 polyglandular syndrome.
- A case report details a 42-year-old man from Rawalpindi, Pakistan, who experienced symptoms like extreme thirst, frequent urination, increased appetite, rapid weight loss, and fatigue, leading to a diagnosis of type 3 polyglandular syndrome with LADA.
- The patient was treated with insulin, resulting in improved blood sugar levels, emphasizing the need for further investigation of autoimmune endocrine disorders in patients with uncontrolled diabetes.
Generalized megaesophagus associated with Schmidt-like syndrome in a dog.
Vet Res Forum
April 2024
Department of Internal Medicine and Clinical Pathology, Faculty of Veterinary Medicine, Urmia University, Urmia, Iran.
Article Synopsis
- - A 2-year-old male Asian Shepherd dog was diagnosed with megaesophagus and various health issues, including anemia and hormonal imbalances.
- - Upon further examination, the dog was found to have myasthenia gravis, a condition contributing to the megaesophagus, along with primary hypothyroidism and hypoadrenocorticism.
- - The case highlights a rare autoimmune polyglandular syndrome (APS) in the dog, similar to Schmidt's syndrome in humans, stressing the need for clinicians to recognize APS for effective treatment.
A patient diagnosed with new-onset type 1 diabetes and Addison's disease at initial presentation.
Endocrinol Diabetes Metab Case Rep
April 2024
Cottage Children's Medical Center, Santa Barbara, California, USA.
Article Synopsis
- A 17-year-old girl with no previous health issues went to the emergency room for vomiting, shortness of breath, and rapid heartbeat, leading to a diagnosis of new onset type 1 diabetes mellitus (T1DM) after finding high blood glucose levels.
- During her hospital stay, she experienced unexpected low blood sugar episodes, excess urination with glucose, and low sodium levels, prompting further investigation.
- Elevated adrenocorticotropic hormone (ACTH) levels revealed Addison's disease, marking a rare case of T1DM and Addison's disease occurring together, underscoring the need for a broad diagnostic approach in unusual cases.
Challenges in autoimmune polyendocrine syndrome type 2 with the full triad induced by anti-programmed cell death 1: a case report and review of the literature.
Front Immunol
May 2024
Department of Endocrinology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.
Article Synopsis
- Immune checkpoint inhibitors (ICPis) can trigger autoimmune diseases, such as autoimmune polyendocrine syndrome type 2 (APS-2), characterized by multiple endocrine issues, including thyroid disease, type 1 diabetes, and Addison's disease.
- A 60-year-old woman developed full APS-2 following anti-PD1 immunotherapy for squamous cell carcinoma, presenting with hypothyroidism, adrenal insufficiency, and type 1 diabetes over 45 weeks.
- Timely hormone replacement therapy improved her condition, highlighting the need for careful monitoring due to the potentially acute nature of APS-2 symptoms after ICPi treatment.
Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1-A Case Study and Literature Review.
J Clin Med
April 2024
Department XI Pediatrics, Discipline I Pediatrics, 'Victor Babes' University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania.
Article Synopsis
- Hypocalcemia in pediatric patients can result from various causes and requires fast evaluation to establish severity and appropriate treatment.
- A case study of a 7-year-old boy highlighted that genetic testing revealed a mutation related to autoimmune polyendocrine syndrome type 1 (APS-1), which complicates diagnosis due to its diverse symptoms.
- The article reviews APS-1's clinical manifestations and genetic aspects while emphasizing the importance of recognizing gene mutations for better diagnosis and tailored management strategies.
CD20 + T lymphocytes in isolated Hashimoto's thyroiditis and type 3 autoimmune polyendocrine syndrome: a pilot study.
J Endocrinol Invest
November 2024
Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy.
Article Synopsis
- CD20 T cells, making up about 5% of T lymphocytes, are linked to higher production of inflammatory cytokines IL-17A and IFN-γ, and may contribute to autoimmune disorders, especially Hashimoto's thyroiditis (HT) in this study.
- The research involved 65 HT patients—some with only HT and others with associated disorders, plus 20 healthy donors as a control group, using blood samples analyzed with flow cytometry to study CD20 T cell behavior.
- Results indicated that CD20 T cell percentages were notably higher in autoimmune patients compared to healthy individuals, particularly in those with associated chronic atrophic gastritis, suggesting a potential role in