Doença endócrina rara caracterizada por doença autoimune da tireoide associada a pelo menos uma outra doença autoimune, como diabetes mellitus tipo I, gastrite atrófica crônica, anemia perniciosa, vitiligo, alopecia ou miastenia gravis, mas excluindo a doença de Addison.
Introdução
O que você precisa saber de cara
Doença endócrina rara caracterizada por doença autoimune da tireoide associada a pelo menos uma outra doença autoimune, como diabetes mellitus tipo I, gastrite atrófica crônica, anemia perniciosa, vitiligo, alopecia ou miastenia gravis, mas excluindo a doença de Addison.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Poliendocrinopatia autoimune tipo 3
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
0 ensaios clínicos encontrados.
Publicações mais relevantes
Ocular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis.
To report the clinical presentation, multimodal imaging, and management in a patient with signal transducer and activator of transcription-3 (STAT3) gain-of-function (GOF) syndrome presenting with polyendocrinopathy and bilateral posterior uveitis. We report a case of bilateral posterior uveitis associated with STAT3-GOF syndrome. A 29-year-old female with type 1 diabetes mellitus, hypothyroidism, and common variable immune deficiency (CVID) presented with bilateral progressive decreased vision. There were no systemic signs and symptoms of infection. Clinical examination showed bilateral mild vitritis, optic disc edema with overlying telangiectasia, and mild non-proliferative diabetic retinopathy. Spectral-domain optical coherence tomography revealed parafoveal outer nuclear layer loss and cystoid macular edema bilaterally. Optic nerve leakage and diffuse capillary leakage in a fern-like pattern were visualized on fluorescein angiography. Fundus autofluorescence showed bilateral hyper-autofluorescence in the posterior poles. Laboratory and imaging workup to rule out occult infection and malignancy were unremarkable. Genetic testing for primary immunodeficiencies revealed a heterozygous germline gain-of function variant in STAT3 (STAT3 c.454C > T), confirming STAT3-GOF syndrome. The patient was treated with subcutaneous immunoglobulin and ruxolitinib, and clinical exam remained stable at 2-year follow up. STAT3-GOF syndrome may present with bilateral optic disc edema, retinitis, and retinal vascular leakage in the setting of recurrent infections and polyendocrinopathy. This case illustrates the role of monogenic mutations in non-neoplastic autoimmune retinopathy and highlights the importance of multidisciplinary management including genetic consultation for accurate diagnosis and targeted immunomodulatory treatment.
Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.
Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked (IPEX) syndrome is a rare autoimmune disorder caused by mutations in the FOXP3 gene. Patients with IPEX frequently present with severe dermatitis, diabetes, and enteropathy. This study explores the efficacy of Dupilumab (an anti-IL-4Rα monoclonal antibody) in treating persistent, severe dermatitis in an IPEX patient refractory to conventional treatments like sirolimus. We conducted a clinical case study of a 2-year-old IPEX patient with refractory dermatitis. Whole-exome sequencing (WES) confirmed the FOXP3 mutation. Skin biopsies were analyzed for inflammatory gene expression by RNA sequencing and immunohistochemistry to characterize inflammatory pathways. Immune cell phenotyping was performed using flow cytometry pre- and post-treatment in peripheral blood mononuclear cells (PBMCs). The patient was treated with Dupilumab alongside sirolimus and prednisone. Clinical improvements were evaluated using the Eczema Area and Severity Index (EASI) score. Immunohistochemistry revealed elevated IL-13 expression. RNA sequencing of skin samples revealed upregulation of both Th1- and Th2-related genes, suggesting a dual inflammatory phenotype in IPEX dermatitis. The patient exhibited significant clinical improvement after 8 months of sustained Dupilumab therapy, with the EASI decreasing from 24.8 to 0.4. Flow cytometry demonstrated a reduction in Th1 and Th2 cell subsets post-treatment, accompanied by an increase in Treg and Th3 cell populations as well as enhanced expression of immunosuppressive markers such as CTLA-4 and CD39. Dupilumab appears promising as a therapeutic option for managing refractory dermatitis in IPEX, particularly by attenuating Th1/Th2 inflammation and promoting regulatory responses mediated by Treg and Th3 cells.
Intravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.
Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) require screening for endocrine manifestations, including diabetes mellitus (DM). This work aimed to describe changes in glucose homeostasis preceding DM onset in patients with APECED. A retrospective cohort study was conducted on 57 Finnish patients with APECED with at least 1 intravenous glucose tolerance test (IVGTT) performed between 1971 and 2001. Observations were compared between 2 groups: patients who developed DM (DM+) and those who did not (DM-). Main outcome measures included fasting plasma glucose (FPG), fasting plasma insulin (INS), fractional glucose removal rate (KG), and first-phase insulin response (FPIR). Sixty-five IVGTTs were performed for 13 DM+ patients (54% females) at age 6.3 to 45.4 years before type 1 DM diagnosis at a median age of 25.0 years (range, 7.2-45.4 years) and 185 for 44 DM- patients (59% females) at age 5.9 to 61.5 years. All FPG values were between 2.9 and 6.3 mmol/L. Median (interquartile range) INS was significantly higher for the DM+ group at 9.05 mIU/L (6.13-11.20) vs the DM- group 5.20 mIU/L (3.85-7.00; P = .010) at age younger than 20 years, but no statistically significant difference was found at age 20 to 40 years (4.50 mIU/L [4.00-8.00 mIU/L] vs 5.00 mIU/L [4.00-9.00 mIU/L]; P = .434). KG and FPIR correlated negatively with age in both groups (DM+, r = -0.393; P = .019; DM-, r = -0.277; P < .001; DM+, rs = -0.588; P < .001; DM-, rs = -0.217; P = .042, respectively). Glucose tolerance decreases with age in patients with APECED. IVGTT-derived markers of glucose tolerance are not predictive of DM in APECED.
Autoimmune hepatitis and immune dysregulation: A case series.
To assess the presence of inborn errors of immunity (IEI) in a pediatric autoimmune hepatitis (AIH) cohort. This retrospective study included patients aged 0-18 diagnosed with AIH in our center between 1995 and 2023 and followed by the immunology department for a clinical and/or molecular IEI diagnosis. Among our 83 AIH patients, five (6%) displayed signs of associated IEI. Two of those patients had a genetic confirmation of IEI (SP110 and AIRE homozygous mutations). IEI-related signs were recurrent infections (n=3), immune-mediated cytopenia (n=4) or skin disease (n=2) and autoimmune polyendocrinopathy (n=1). The four patients diagnosed with seronegative AIH responded to immunosuppressive therapy, while the AIH type 2 patient underwent emergent liver transplantation for fulminant liver failure at diagnosis. Our small case series highlights the need to look for signs of immune dysregulation in AIH patients. Conversely, as AIH can be atypical in IEI, the threshold should be low to perform a diagnostic liver biopsy in IEI patients suffering from chronic cytolysis. We believe that systematic genetic testing and immune phenotyping of AIH patients who display signs of immune dysregulation will be crucial to better understand the close link between AIH and IEI.
Autoimmune polyendocrine syndrome type 2 in children: a case report and literature review.
Autoimmune polyendocrine syndrome (APS) is a clinical disorder characterized by the loss of immune tolerance, leading to dysfunction in multiple endocrine glands. According to the latest disease classification, APS is categorized into three main subtypes: APS-1, APS-2, and IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) syndrome. APS-2 is defined by the presence of at least two autoimmune endocrine disorders, such as type 1 diabetes mellitus, autoimmune thyroiditis, or Addison's disease. APS-2 typically manifests later than APS-1, with onset most commonly occurring in early adulthood. However, pediatric cases involving a combination of autoimmune thyroid disease, type 1 diabetes mellitus, and myasthenia gravis, are extremely rare. This article reported the case of a 3-year-old girl diagnosed with autoimmune polyendocrine syndrome type 2 (APS-2). The patient initially presented with hyperthyroidism and exophthalmos and was subsequently diagnosed with type 1 diabetes mellitus and myasthenia gravis. To our knowledge, this case represents the youngest reported patient of APS-2 at the time of diagnosis, as well as the shortest documented interval between the onset of autoimmune disorders affecting distinct endocrine glands. Through a retrospective analysis, we comprehensively reviewed the phenotypic characteristics of APS-2 and explored its potential immune mechanisms. This article aims to provide clinicians with a valuable reference case to enhance early recognition and facilitate the implementation of targeted prevention and treatment strategies.
Publicações recentes
Real world incidence, predictors and outcomes of endocrine immune-related adverse events following immune checkpoint inhibitors.
🥇 Revisão sistemáticaGenotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.
A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
📚 EuropePMC209 artigos no totalmostrando 163
Ocular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis.
American journal of ophthalmology case reportsPediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.
Journal of clinical immunologyIntravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.
Journal of the Endocrine SocietyCase Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma.
Frontiers in geneticsMixed Multiple Autoimmune Syndrome Type 3 With Coexistence of Primary Biliary Cholangitis, Inflammatory Myopathy, and Chronic Thyroiditis: A Case Report.
CureusInterval Changes in Hematopoietic Vacuolization in VEXAS Syndrome with M41T Mutation: Insights into Diagnosis and Disease Progression.
Clinical laboratoryCase Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy.
Frontiers in immunologyAutoimmune hepatitis and immune dysregulation: A case series.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverClinical and serological characteristics of type 3 APS, isolated T1DM and LADY/LADA.
BMC endocrine disordersA case-control study on autoimmune polyendocrine syndromes in patients with systemic lupus erythematosus.
Rheumatology (Oxford, England)Autoimmune polyendocrine syndrome type 2 in children: a case report and literature review.
BMC pediatricsDetection rate and clinical characteristics of coexisting autoimmune diseases in children with Graves' disease: a single-center study from China.
EndocrineThe Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.
International journal of molecular sciencesRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectSystematic Analysis and Network Mapping of Disease Associations in Autoimmune Polyglandular Syndrome.
The Journal of clinical endocrinology and metabolismDiverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.
Journal of clinical immunologySalvianolic acid B alleviates autoimmunity in Treg-deficient mice via inhibiting IL2-STAT5 signaling.
Phytotherapy research : PTRIncreased 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 research and clinical practiceNeurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.
Journal of clinical immunologyAssociation of latent autoimmune diabetes of adults with type 3 polyglandular autoimmune syndrome-a diagnostic challenge.
JPMA. The Journal of the Pakistan Medical AssociationCD20 + T lymphocytes in isolated Hashimoto's thyroiditis and type 3 autoimmune polyendocrine syndrome: a pilot study.
Journal of endocrinological investigationLessons From Prospective Longitudinal Follow-up of a French APECED Cohort.
The Journal of clinical endocrinology and metabolismEarly-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrine Syndrome Type 1: A Case Report and Review of the Literature.
Journal of clinical research in pediatric endocrinologyIPEX syndrome from diagnosis to cure, learning along the way.
The Journal of allergy and clinical immunologyAutoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.
NatureAutoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
NatureValidation of a murine proteome-wide phage display library for identification of autoantibody specificities.
JCI insightA 20-year study of autoimmune polyendocrine syndrome type II and III in Taiwan.
European thyroid journalLeber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.
Documenta ophthalmologica. Advances in ophthalmologyImmunological Evaluation of Pediatric Patients with Polyautoimmunity.
Endocrine, metabolic & immune disorders drug targetsInterleukin (IL)-23, IL-31, and IL-33 Play a Role in the Course of Autoimmune Endocrine Diseases.
Endocrine, metabolic & immune disorders drug targetsAutoimmune Polyglandular Syndrome Type 3 Complicated with IgG4-related Disease.
Internal medicine (Tokyo, Japan)[Autoimmune polyglandular syndrome type 3 diagnosed with cerebral venous sinus thrombosis: a case report].
Rinsho shinkeigaku = Clinical neurologyBone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases.
Calcified tissue internationalPubertal development and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a retrospective study.
European journal of endocrinologyCase report: Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED.
Frontiers in pediatricsA Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Journal of clinical immunologyType 3 autoimmune polyglandular syndrome (APS-3) or type 3 multiple autoimmune syndrome (MAS-3): an expanding galaxy.
Journal of endocrinological investigationFOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
Journal of clinical immunologyEpigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation.
The Journal of allergy and clinical immunologyOcular Sarcoidosis and Autoimmune Polyglandular Syndrome Type 2: A Case Report.
Ocular immunology and inflammationExtrathymic expression of Aire controls the induction of effective TH17 cell-mediated immune response to Candida albicans.
Nature immunologyAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and esophageal rupture by candida infection: A case report and review.
Journal de mycologie medicaleLAMP2 regulates autophagy in the thymic epithelium and thymic stroma-dependent CD4 T cell development.
AutophagySpectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
European journal of endocrinology[Type 1 diabetes mellitus and Graves Basedow's disease, a case of Autoimmune Polyglandular Syndrome].
Andes pediatrica : revista Chilena de pediatriaEarly vs late histological confirmation of coeliac disease in children with new-onset type 1 diabetes.
Diabetologia[The efficacy of alemtuzumab for pure red cell aplasia associated with autoimmune polyendocrine syndrome type 1].
[Rinsho ketsueki] The Japanese journal of clinical hematologyCase Report: Onset of Type 1 Diabetes Mellitus in a Patient With Ulcerative Colitis and Sjogren's Syndrome Under Euthyroid Hashimoto's Thyroiditis.
Frontiers in endocrinologyIdentification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing.
Pediatric dermatologyClinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study.
Journal of pediatric endocrinology & metabolism : JPEMRituximab as Maintenance Therapy in Type 1 Autoimmune Pancreatitis: An Italian Experience.
PancreasCepharanthine Blocks Presentation of Thyroid and Islet Peptides in a Novel Humanized Autoimmune Diabetes and Thyroiditis Mouse Model.
Frontiers in immunologyHypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.
Journal of the Endocrine SocietyCase Report: A Rare Case of Coexisting of Autoimmune Polyglandular Syndrome Type 3 and Isolated Gonadotropin-Releasing Hormone Deficiency.
Frontiers in immunologyPatients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections.
Clinical immunology (Orlando, Fla.)Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.
BMC endocrine disordersFamilial Clustering of Juvenile Psoriatic Arthritis Associated with a Hemizygous FOXP3 Mutation.
Current rheumatology reportsReport of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
Italian journal of pediatricsImmune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset.
Journal of clinical research in pediatric endocrinologyType 3 autoimmune polyglandular syndrome with multiple genetic alterations in a young male patient with type 1 diabetes mellitus.
Endokrynologia PolskaAutoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Journal of endocrinological investigationPolymorphism in BACH2 gene is a marker of polyglandular autoimmunity.
EndocrineAutoinmune polyendocrinopathy.
Medicina clinicaAtypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.
BMJ case reportsAutoimmune polyendocrine syndrome type 3, characterized by autoimmune thyroid disease, type 1 diabetes mellitus, and isolated ACTH deficiency, developed during adjuvant nivolumab treatment.
Asia-Pacific journal of clinical oncologyCytokine-specific autoantibodies shape the gut microbiome in autoimmune polyendocrine syndrome type 1.
The Journal of allergy and clinical immunologyAutoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.
International journal of molecular sciencesType 1 Diabetes and Autoimmune Thyroid Disease-The Genetic Link.
Frontiers in endocrinologyA delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A case report.
Medicine[Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAutoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.
Frontiers in immunologyIPEX Syndrome: Genetics and Treatment Options.
GenesMonocytic Cytokines in Autoimmune Polyglandular Syndrome Type 2 Are Modulated by Vitamin D and HLA-DQ.
Frontiers in immunology[Instrumental and laboratory parameters of myocardial function in adult patients with autoimmune polyglandular syndrome type 2, 3].
Problemy endokrinologii[The prevalence of newly diagnosed autoimmune diseases among patients with Graves' disease and autoimmune polyglandular syndrome of adults].
Terapevticheskii arkhivHuman-engineered Treg-like cells suppress FOXP3-deficient T cells but preserve adaptive immune responses in vivo.
Clinical & translational immunologyAutoimmune polyendocrine syndrome induced by immune checkpoint inhibitors: a systematic review.
Cancer immunology, immunotherapy : CIIPubertal development and premature ovarian insufficiency in patients with APECED.
European journal of endocrinologyLevothyroxine and insulin requirement in autoimmune polyglandular type 3 syndrome: a real-life study.
Journal of endocrinological investigationA rare case of coexistence of autoimmune polyglandular syndrome type 3 with growth hormone deficiency and hyperthyroidism in a patient with pseudo-Turner's syndrome.
The Journal of international medical researchAlopecia areata with autoimmune polyglandular syndrome type 3 showing type 1/Tc1 immunological inflammation.
European journal of dermatology : EJDImpact of periprocedural subcutaneous parathyroid hormone on control of hypocalcaemia in APS-1/APECED patients undergoing invasive procedures.
Clinical endocrinologyAutoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.
Journal of endocrinological investigationAutoimmune Polyendocrine Syndrome Complicated by Pulmonary Hypertension.
Endocrine, metabolic & immune disorders drug targetsAbsence of central tolerance in Aire-deficient mice synergizes with immune-checkpoint inhibition to enhance antitumor responses.
Communications biologyA novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Molecular medicine reportsDelay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome.
Iranian journal of allergy, asthma, and immunologyCase of autoimmune polyendocrine syndrome type 3 complicated with anti-N-methyl-D-aspartic acid-receptor encephalitis.
Journal of diabetes investigationThe altered circadian pattern of basal insulin requirements - an early marker of autoimmune polyendocrine syndromes in type 1 diabetes mellitus.
Endocrine regulationsAire Gene Influences the Length of the 3' UTR of mRNAs in Medullary Thymic Epithelial Cells.
Frontiers in immunologyA Patient with Fulminant Myasthenia Gravis Is Seropositive for Both AChR and LRP4 Antibodies, Complicated by Autoimmune Polyglandular Syndrome Type 3.
Internal medicine (Tokyo, Japan)Chromogranin Serves as Novel Biomarker of Endocrine and Gastric Autoimmunity.
The Journal of clinical endocrinology and metabolismA case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.
MedicineAutoimmune Polyglandular Syndrome type 2.
Revista da Associacao Medica Brasileira (1992)IPEX syndrome: an easily-missed diagnosis of a life threatening condition.
The Turkish journal of pediatricsFatal adrenal crisis due to Addison's disease arising in the context of autoimmune polyglandular syndrome type 1.
Forensic science, medicine, and pathologyAutoimmune polyglandular syndrome type 3 variant in rheumatoid arthritis.
Romanian journal of internal medicine = Revue roumaine de medecine interneHuman Leukocyte Antigen (HLA) Subtype-Dependent Development of Myasthenia Gravis, Type-1 Diabetes Mellitus, and Hashimoto Disease: A Case Report of Autoimmune Polyendocrine Syndrome Type 3.
The American journal of case reportsAmino Acid Polymorphisms in Hla Class II Differentiate Between Thyroid and Polyglandular Autoimmunity.
The Journal of clinical endocrinology and metabolismDelay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran.
Immunological investigations[Autoimmune polyglandular disorders in myotonic dystrophy].
Problemy endokrinologiiType I Diabetes is the Main Cost Driver in Autoimmune Polyendocrinopathy.
The Journal of clinical endocrinology and metabolismNovel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1.
ImmunobiologyAnti-programmed cell death protein 1 (anti-PD1) immunotherapy induced autoimmune polyendocrine syndrome type II (APS-2): a case report and review of the literature.
Journal for immunotherapy of cancerScreening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
Journal of pediatric endocrinology & metabolism : JPEMA Patient with Type 3 Autoimmune Polyglandular Syndrome who Developed Systemic Lupus Erythematosus 8 years after the Diagnosis of Autoimmune Hepatitis.
Acta medica OkayamaType II polyglandular autoimmune syndrome: a case of Addison's disease precipitated by use of levothyroxine.
BMJ case reportsAutoimmune Polyglandular Syndrome Type 1: a case report.
BMC medical geneticsHematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome.
Pediatric diabetesJaundice and anaemia as presenting features of an incomplete autoimmune polyglandular syndrome type II.
BMJ case reportsDermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3.
International journal of dermatologyThe role of FOXP3+ regulatory T cells in human autoimmune and inflammatory diseases.
Clinical and experimental immunologyCase of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis.
BMJ case reportsAlopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases.
International journal of dermatologyHLA-DQB1 Position 57 Defines Susceptibility to Isolated and Polyglandular Autoimmunity in Adults: Interaction With Gender.
The Journal of clinical endocrinology and metabolismSex Alters the MHC Class I HLA-A Association With Polyglandular Autoimmunity.
The Journal of clinical endocrinology and metabolismDisruption of FOXP3-EZH2 Interaction Represents a Pathobiological Mechanism in Intestinal Inflammation.
Cellular and molecular gastroenterology and hepatologyLong-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.
The Journal of pediatricsClinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.
Clinical and translational gastroenterology21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I.
Clinical and experimental immunologyThe heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers.
Clinical immunology (Orlando, Fla.)Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-like Autoimmune Disease.
Journal of immunology (Baltimore, Md. : 1950)Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant.
GeneA case of Metaplastic atrophic gastritis in immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome.
BMC pediatricsConcurrent variant type 3 autoimmune polyglandular syndrome and pulmonary arterial hypertension in a Japanese woman.
Endocrine journalRapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.
Cold Spring Harbor molecular case studiesPTPN22 and CTLA-4 Polymorphisms Are Associated With Polyglandular Autoimmunity.
The Journal of clinical endocrinology and metabolismAtypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report.
Frontiers in pediatrics[Myasthenia gravis, Graves-Basedow disease and other autoimmune diseases in patient with diabetes type 1 - APS-3 case report, therapeutic complications].
Pediatric endocrinology, diabetes, and metabolismLong-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
The Journal of allergy and clinical immunologyDOCK8 Deficiency Presenting as an IPEX-Like Disorder.
Journal of clinical immunologyA 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 medical informatics and decision makingAutoantibodies against the calcium-sensing receptor and cytokines in autoimmune polyglandular syndromes types 2, 3 and 4.
Clinical endocrinologyAltered expression of circadian clock genes in polyglandular autoimmune syndrome type III.
EndocrineEpidemiological and clinical peculiarities of polyglandular syndrome type 3 in pediatric age.
Italian journal of pediatricsClonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment.
Scandinavian journal of immunologyGAD antibody-associated limbic encephalitis in a young woman with APECED.
Endocrinology, diabetes & metabolism case reportsA 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 endocrinology lettersExome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.
The Journal of clinical endocrinology and metabolismAssessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay.
Clinical chemistry and laboratory medicine[Postpartum thyroiditis as the first clinical manifestation of autoimmune polyendocrine syndrome type 2 – case report].
Przeglad lekarskiDelayed diagnosis with autoimmune polyglandular syndrome type 2 causing acute adrenal crisis: A case report.
MedicineAIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies.
CellCutting Edge: Commensal Microbiota Has Disparate Effects on Manifestations of Polyglandular Autoimmune Inflammation.
Journal of immunology (Baltimore, Md. : 1950)Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI).
European journal of obstetrics, gynecology, and reproductive biologyIdentification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism.
Clinical endocrinologyAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.
Journal of pediatric endocrinology & metabolism : JPEM[Polyglandular autoimmune syndromes : An overview].
Der PathologeAIRE is not essential for the induction of human tolerogenic dendritic cells.
AutoimmunityAddison's disease with polyglandular autoimmunity carries a more than 2·5-fold risk for adrenal crises: German Health insurance data 2010-2013.
Clinical endocrinologyQuantitative analysis of tissue inflammation and responses to treatment in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and review of literature.
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhiThe immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Current opinion in allergy and clinical immunologyGenetics of Autoimmune Thyroiditis in Type 1 Diabetes Reveals a Novel Association With DPB1*0201: Data From the Type 1 Diabetes Genetics Consortium.
Diabetes careWhole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Frontiers in endocrinology[Difference in target antigens between central tolerance and peripheral tolerance deficiencies].
Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology[Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus].
Wiadomosci lekarskie (Warsaw, Poland : 1960)Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
CorneaGenome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.
Journal of autoimmunityRetinal degeneration in autoimmune polyglandular syndrome type 1: a case series.
The British journal of ophthalmologyAutoimmune spontaneous chronic urticaria and generalized myasthenia gravis in a patient with polyglandular autoimmune syndrome type 3.
Muscle & nerveImmune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita.
Pediatric dermatologyVitamin D and autoimmunity: what happens in autoimmune polyendocrine syndromes?
Journal of endocrinological investigationAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Poliendocrinopatia autoimune tipo 3.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Poliendocrinopatia autoimune tipo 3
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Ocular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis.
- Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.
- Intravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.
- Autoimmune hepatitis and immune dysregulation: A case series.Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver· 2025· PMID 40819988mais citado
- Autoimmune polyendocrine syndrome type 2 in children: a case report and literature review.
- Real world incidence, predictors and outcomes of endocrine immune-related adverse events following immune checkpoint inhibitors.
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
- When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.
- A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:227982(Orphanet)
- MONDO:0016422(MONDO)
- GARD:10980(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q19595987(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
