Grupo de diversas condições caracterizadas por autoimunidade espontânea e multiorgânica, que tem como alvo tecidos endócrinos (adrenais, gônadas, células das ilhotas pancreáticas, paratireóide, hipófise, tireoide) e não endócrinos (gastrointestinais, tegumentares, linfáticos).
Introdução
O que você precisa saber de cara
Grupo de diversas condições caracterizadas por autoimunidade espontânea e multiorgânica, que tem como alvo tecidos endócrinos (adrenais, gônadas, células das ilhotas pancreáticas, paratireóide, hipófise, tireoide) e não endócrinos (gastrointestinais, tegumentares, linfáticos).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 41 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 110 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromat
NucleusCytoplasm
Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia
A rare disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism.
Medicamentos e terapias
Mecanismo: Toll-like receptor 7 antagonist
Mecanismo: Coagulation factor X inhibitor
Mecanismo: Vitamin k epoxide reductase complex subunit 1 isoform 1 inhibitor
Mecanismo: Tumor necrosis factor ligand superfamily member 13B inhibitor
Mecanismo: B-lymphocyte antigen CD20 binding agent
Mecanismo: HMG-CoA reductase inhibitor
Variantes genéticas (ClinVar)
364 variantes patogênicas registradas no ClinVar.
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
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
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Publicações mais relevantes
First-in-class anti-human CD45RC antibody targets CD45RChigh T and B cells to mitigate pathogenic immune responses.
CD45RC, an isoform of the transmembrane tyrosine phosphatase CD45, regulates T and B cell antigen receptor signaling and is highly expressed on Th1 precursors, Th1 cells, T effector memory CD45RA+ cells, and most B cells. Preclinical studies have shown that anti-CD45RC monoclonal antibodies (mAbs) can prevent or control diseases such as transplant rejection, graft-versus-host disease (GvHD), Duchenne muscular dystrophy (DMD), and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS-1). However, their mechanism of action remained unclear. Here, we elucidate the mechanism of anti-human CD45RC mAbs, showing that it selectively induces apoptosis in CD45RChigh T and B cells through binding to cells expressing >24 CD45RC molecules/μm2. This interaction triggers intracellular signaling without cytokine release. Cytotoxicity by apoptosis is enhanced by crosslinking with a secondary antibody. The mAb also promotes antibody-dependent cellular phagocytosis by monocyte-derived macrophages, without inducing antibody-dependent cellular cytotoxicity or complement-dependent cytotoxicity, likely due to the length of CD45RC. In CD34+-humanized NSG mice, anti-CD45RC mAbs demonstrated dose-dependent depletion of CD45RChigh T and B cells and defined a minimum effective dose to prevent xenogeneic GvHD. These findings define the mechanism of action of this first-in-class anti-human CD45RC therapeutic mAb and supports its potential for the treatment of transplant rejection, GvHD, and autoimmune diseases.
Real world incidence, predictors and outcomes of endocrine immune-related adverse events following immune checkpoint inhibitors.
Endocrine dysfunction is one of the most common immune-related adverse events (irAEs) reported in immune checkpoint inhibitors (ICIs) clinical trials. The aim of this research was to thoroughly assess the clinical features of endocrine irAEs, investigate the risk and predictive variables, and provide guidance for clinical therapy. This study performed a retrospective review of clinical data from 269 patients with malignant malignancies who underwent initial immune checkpoint inhibitor treatment at the First Bethune Hospital of Jilin University between May 2021 and October 2022.The incidence of endocrine irAEs was 31.6% (85/269), while the autoimmune polyendocrinopathy syndrome (APS) was observed in 1.1% (3/269). The median time for the first adverse reaction was 46 (33.5, 100.5) d. The occurrence of ICIs-related thyroid injury events was significant, with the incidence at 27.5% (74/269), whereas the frequency of grade 2 and higher adverse reactions was 33.8% (25/74). Female gender (OR = 2.723, 95 % CI: 1.447-5.125) and a history of chemotherapy (OR = 2.716, 95 % CI: 1.079-6.836) were distinct risk factors for thyroid injury associated with ICIs. In the 106/269 who had baseline antibody testing, the presence of anti-thyroglobulin antibodies (TGAb) (AUC = 0.717) and thyroid peroxidase antibody (TPOAb) (AUC = 0.690) could aid in predicting this injury, with TGAb demonstrating greater reliability. The prevalence of ICIs-related diabetes was 3.7% (10/269), with a higher occurrence in male patients compared to female patients, and the rate of grade 3 and above adverse reactions was 10% (3/10). The occurrence of ICIs-related pituitary inflammation was 1.1% (3/269), primarily involving pituitary hormones such as thyroid stimulating hormone (TSH) and adrenocorticotropic hormone (ACTH). The incidence of ICIs-related adrenocortical hypofunction was 0.4% (1/269), with a grade 3 adverse event. The antibody testing was performed in a nonrandom subset and thus the predictive AUC results might be affected by bias.
Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy is an extremely rare autosomal recessive disorder caused by inborn errors of immunity. It is due to a loss-of-function mutation in the AIRE autoimmune regulator gene. Its manifestations include autoimmunity affecting endocrine glands, in addition to non-endocrine manifestations including dental enamel hypoplasia, alopecia areata, hepatitis, and chronic mucocutaneous candidiasis. Globally, 10 cases per million are affected by this condition, with higher incidence in highly consanguineous populations. Here, we describe a novel AIRE gene mutation in a pediatric patient from Lebanon, along with the observed phenotype. A nine-year-old boy with history of craniosynostosis presented with jaundice. His past medical history was significant for recurrent oral thrush, keratoconjunctivitis, nail dystrophy, and alopecia. Upon presentation, he had jaundice, isolated splenomegaly, and severe failure to thrive. Laboratory tests showed transaminitis, cholestasis, and hypergammaglobulinemia. Abdominal ultrasound findings were suggestive of cirrhosis with compensated portal hypertension. The differential diagnosis included viral infection, inborn errors of metabolism, and autoimmune hepatitis. Exome sequencing identified a novel homozygous pathogenic variant in the AIRE gene, NM_000383.4: c.1066dup p.(Arg356Profs*16), confirming the diagnosis. This study expands the genotypic and phenotypic spectrum of a rare inborn error of immunity in a child with chronic mucocutaneous candidiasis, enamel hypoplasia, and hepatitis.
When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.
Autoimmune polyendocrinopathy syndrome type 1 (APS-1) is a rare autosomal recessive disorder caused by pathogenic variants in the AIRE gene and classically characterized by the triad of hypoparathyroidism, chronic mucocutaneous candidiasis, and adrenal insufficiency. Although hypoparathyroidism is often the earliest manifestation, isolated and prolonged monosymptomatic presentations remain uncommon and may delay recognition of the syndrome. We report the case of a child who was first presented at four years of age with severe hypocalcemia in the setting of acute gastroenteritis and was diagnosed with hypoparathyroidism. Apart from hypomagnesemia and hyperphosphatemia, extensive workup revealed no additional autoimmune or endocrine abnormalities. Genetic testing subsequently identified a homozygous likely pathogenic stop-loss AIRE gene mutation, confirming APS-1. Over a three-year follow-up period, the patient remained clinically stable with well-controlled hypoparathyroidism, except for hypocalcemic episodes during diarrheal illnesses, and persistently normal adrenal, thyroid, pancreatic, and celiac screening. The first additional disease feature emerged three years after the initial presentation, at the age of seven years, when a fungal nail infection consistent with mucocutaneous candidiasis was noted. This case highlights the marked phenotypic variability with delayed evolution of APS-1 and underscores that isolated hypoparathyroidism, even when severe, may precede other disease components by several years. Early genetic testing in children with apparently isolated hypoparathyroidism allows anticipatory guidance, structured surveillance, and timely recognition of evolving autoimmune manifestations.
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a multi-system autoimmune disorder caused by AIRE gene variants. Diagnosis can be challenging and often delayed. A specialised clinic for children and young people with APECED established in 2024 at Bristol Royal Hospital for Children, recruited patients from South-West England. We describe the diagnostic journey, disease progression and management challenges for 4 patients with APECED. All cases had a history of fungal nail infections and chronic mucocutaneous candidiasis preceding the development of endocrinopathy. Hypoparathyroidism was the most common endocrine presentation (n=3). Two patients had pancreatic exocrine dysfunction requiring pancreatic enzyme replacement. One patient had primary ovarian insufficiency (POI) aged 11. One female without evidence of POI was referred to fertility services to discuss fertility preservation. Immunomodulation was used in 2 patients; 1 received sirolimus, rituximab, corticosteroids, mycophenolate followed by ruxolitinib and 1 patient recently started ruxolitinib. Inter-speciality working is important to detect and manage a range of comorbidities as new immunomodulatory therapies that aim to prevent disease progression are emerging. Proactive screening for certain autoantibodies such as 21-OH can help predict patients at risk of certain endocrinopathies and may provide an opportunity for early intervention to prevent long-term morbidity.
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.
📖 RevisãoAutoimmune 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 197
Real world incidence, predictors and outcomes of endocrine immune-related adverse events following immune checkpoint inhibitors.
Human vaccines & immunotherapeuticsGenotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
GenesWhen One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.
CureusAutoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.
Journal of pediatric endocrinology & metabolism : JPEMA novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Journal of human immunityAIRE's Complex Role Beyond Promiscuous Gene Expression.
Immunological reviewsIntravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.
Journal of the Endocrine SocietyType 1 Diabetes and Other Autoimmune Diseases-Epidemiology, Pathophysiology and Screening.
Endocrinology, diabetes & metabolismAddison's disease in patients with autoimmune primary ovarian insufficiency: a concise guide for gynecologists and obstetricians.
Ginekologia polskaOral and Craniofacial Development and Immunology.
Advances in experimental medicine and biologyCase Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma.
Frontiers in geneticsFirst-in-class anti-human CD45RC antibody targets CD45RChigh T and B cells to mitigate pathogenic immune responses.
Molecular therapy : the journal of the American Society of Gene TherapyIntrathymic T-cell ontogeny: Crossroad between immune competence and tolerance.
The Journal of allergy and clinical immunologyBalancing IL-17-mediated protection and IFN-γ-driven pathology at mucocutaneous barriers.
Trends in immunologyHead and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.
International journal of molecular sciencesCase 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 immunologyCase report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Frontiers in immunologyRecurrent Hypoglycemia in a child With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy-associated Hepatitis.
Journal of clinical and experimental hepatologyAutoimmune 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 LiverPrecision T cell correction platform for inborn errors of immunity.
Molecular therapy : the journal of the American Society of Gene TherapyImmune cell subsets in autoimmune polyendocrine syndrome type I.
Scientific reportsDelayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.
BMJ case reportsWhen Hashimoto's Thyroiditis Masks Biermer's Disease: A Revealing Case of Autoimmune Polyendocrinopathy.
CureusHigh-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.
Frontiers in immunologyPernicious Anemia in a Pediatric Patient With Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
JCEM case reportsLongitudinal Immune Profiling in Autoimmune Polyendocrine Syndrome Type 1.
Scandinavian journal of immunologyThe Great Mimicker: Langerhans Cell Histiocytosis Mimicking Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy.
Fetal and pediatric pathologyRenal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review.
BMC pediatricsBronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report.
BMC pulmonary medicineUncovering ASO-Targetable Deep Intronic AIRE Variants: Insights and Therapeutic Implications.
DNA and cell biologyWhere AIRE we now? Where AIRE we going?
Current opinion in allergy and clinical immunologyRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectA deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Science translational medicineRecalcitrant extensive dermatophytosis in twin brothers with APECED syndrome.
Pediatric dermatologyDecreased T-cell response against latent cytomegalovirus infection does not correlate with anti-IFN autoantibodies in patients with APECED.
APMIS : acta pathologica, microbiologica, et immunologica ScandinavicaLymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis.
Journal of clinical immunologyNeurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.
Journal of clinical immunologyJAK Inhibition Immunotherapy for APS-1.
The New England journal of medicineThe Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
The New England journal of medicineLong-term remission of candidiasis with fermented lingonberry mouth rinse in an adult patient with APECED.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesLessons From Prospective Longitudinal Follow-up of a French APECED Cohort.
The Journal of clinical endocrinology and metabolismProgressive Impairment of Prepubertal Growth in Children With APECED.
The Journal of clinical endocrinology and metabolismEarly recognition of the APECED rash can accelerate the diagnosis of APECED.
Clinical immunology communicationsRecurrent venous thrombosis - an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskundeNovel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.
Advances in experimental medicine and biologyAPECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity.
Scandinavian journal of immunologyVKH with APECED in a Two-Year-Old Child: A Rare Concomitant Diagnosis in an Unprecedented Age.
Ocular immunology and inflammationCutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review.
BiomedicinesHuman autoantibodies neutralizing type I IFNs: From 1981 to 2023.
Immunological reviewsGenetic Susceptibility to Fungal Infections.
Advanced biomedical researchDysregulated germinal center reaction with expanded T follicular helper cells in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy lymph nodes.
The Journal of allergy and clinical immunologyIdentification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations.
Science translational medicineAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-Associated Hepatitis.
ACG case reports journalEarly-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 endocrinologyInitiation of Continuous rhPTH Infusion With Insulin Pump in an Inpatient Setting.
JCEM case reportsAutoantibodies 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 insightT-cell receptor repertoire analysis of CD4-positive T cells from blood and an affected organ in an autoimmune mouse model.
Genes to cells : devoted to molecular & cellular mechanismsAlopecia areata and occurrence of vitiligo and hypothyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Pediatric dermatologyAnalysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.
Frontiers in immunologyOcular features of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
BMJ case reportsAutoimmune regulator (Aire) deficiency results in reduced memory CD8+ T cells after Listeria monocytogenes infection in a murine model.
FEBS lettersAutoimmune Polyendocrinopathy in a Pediatric Patient Presenting With Multisystem Inflammatory Syndrome in Children (MIS-C).
CureusCTLA4-Ig Effectively Controls Clinical Deterioration and Immune Condition in a Murine Model of Foxp3 Deficiency.
Journal of clinical immunologyAn Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission.
Case reports in immunologyGastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patient: major effect on treatment and prognosis.
Endocrinology, diabetes & metabolism case reportsValidation of a murine proteome-wide phage display library for the identification of autoantibody specificities.
bioRxiv : the preprint server for biologyA Rare Case of Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome: Dental Perspective on Diagnosis and Management.
International journal of clinical pediatric dentistryBone 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: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Frontiers in immunologyCase report: Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED.
Frontiers in pediatricsAutoantibody repertoire characterization provides insight into the pathogenesis of monogenic and polygenic autoimmune diseases.
Frontiers in immunologyAutoimmune regulator (AIRE): Takes a hypoxia-inducing factor 1A (HIF1A) route to regulate FOXP3 expression in PCOS.
American journal of reproductive immunology (New York, N.Y. : 1989)A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.
Journal of endocrinological investigationInborn errors of immunity and related microbiome.
Frontiers in immunologyRecurrent Hypokalemia and Adrenal Steroids in Patients With APECED.
Frontiers in endocrinologyAutoimmune 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.
AutophagyAutoimmune Polyendocrinopathy Induced by an Antibody (KN046) That Simultaneously Inhibits PD-L1 and CTLA-4: A Case Report and Literature Review.
Diabetes, metabolic syndrome and obesity : targets and therapyClinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.
GenesGeneration and Characterization of iPS Cells Derived from APECED Patients for Gene Correction.
Frontiers in endocrinologyMycophenolate-Induced Colitis in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients.
JPGN reportsOral manifestations of autoimmune polyglandular syndrome type 1.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryAnti-CD45RC antibody immunotherapy prevents and treats experimental autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
The Journal of clinical investigationClinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome.
American journal of ophthalmology case reportsRituximab as Maintenance Therapy in Type 1 Autoimmune Pancreatitis: An Italian Experience.
PancreasMolecular 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 journal of rare diseasesEndocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1).
Frontiers in endocrinologyHypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.
Journal of the Endocrine SocietyLong-term Outcome of Kidney Transplantation in 6 Patients With Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy.
TransplantationFrench-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.
EndocrineAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
Frontiers in pediatricsAutoimmune thyroiditis - track towards autoimmune polyendocrinopathy type III.
Archive of clinical casesPregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies.
The Journal of clinical endocrinology and metabolismLoss of AIRE-Mediated Immune Tolerance and the Skin.
The Journal of investigative dermatology[Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia. A case report].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections.
Clinical immunology (Orlando, Fla.)SARS-CoV-2 Spike Protein-Directed Monoclonal Antibodies May Ameliorate COVID-19 Complications in APECED Patients.
Frontiers in immunologyAntibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity.
The Journal of allergy and clinical immunologyCandidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?
Current opinion in immunologyInfections in the monogenic autoimmune syndrome APECED.
Current opinion in immunologyInfections and demanding endocrine care contribute to increased mortality in patients with APECED.
European journal of endocrinologyFatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Respiratory medicine case reportsCase Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy.
Frontiers in endocrinologyAIRE Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review.
Frontiers in immunologyCase Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED.
Frontiers in neurologyReport of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
Italian journal of pediatricsClinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.
Expert review of clinical immunologyAtypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.
BMJ case reportsSevere COVID-19 in an APS1 patient with interferon autoantibodies treated with plasmapheresis.
The Journal of allergy and clinical immunologyPreexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.
The Journal of experimental medicineType 1 Diabetes and Autoimmune Thyroid Disease-The Genetic Link.
Frontiers in endocrinologyTreg-associated monogenic autoimmune disorders and gut microbial dysbiosis.
Pediatric researchAIRE deficiency, from preclinical models to human APECED disease.
Disease models & mechanismsLate-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Immunologic researchAn AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance.
Frontiers in immunologyAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.
GenesAcquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1.
BMC medical genomicsThe Prevalence of Selective and Partial Immunoglobulin A Deficiency in Patients with Autoimmune Polyendocrinopathy.
Immunological investigationsCase Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome.
Frontiers in dental medicineA Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess.
The Pediatric infectious disease journalDevelopment of autoimmune diabetes with severe diabetic ketoacidosis and immune-related thyroiditis secondary to durvalumab: a case report.
Translational lung cancer researchNLRP3 Inhibition Ameliorates Severe Cutaneous Autoimmune Manifestations in a Mouse Model of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-Like Disease.
The Journal of investigative dermatologyPubertal development and premature ovarian insufficiency in patients with APECED.
European journal of endocrinologyImpact of periprocedural subcutaneous parathyroid hormone on control of hypocalcaemia in APS-1/APECED patients undergoing invasive procedures.
Clinical endocrinologyMicroarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion.
Journal of paediatrics and child healthAutoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.
Journal of endocrinological investigationIn vitro maturation of oocytes for preserving fertility in autoimmune premature ovarian insufficiency.
Fertility and sterilityA novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Molecular medicine reportsAPECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data From a Large, Predominantly American Cohort.
Hepatology (Baltimore, Md.)Neutralizing natural anti-IL-17F autoantibodies protect Autoimmune Polyendocrine Syndrome Type 1 (APS-1) patients from asthma.
Clinical immunology (Orlando, Fla.)IL-22 Paucity in APECED Is Associated With Mucosal and Microbial Alterations in Oral Cavity.
Frontiers in immunologyChromogranin Serves as Novel Biomarker of Endocrine and Gastric Autoimmunity.
The Journal of clinical endocrinology and metabolismIdentification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq.
eLifeA case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.
MedicineDual functions of Aire CARD multimerization in the transcriptional regulation of T cell tolerance.
Nature communicationsSevere Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations.
Frontiers in endocrinologyPatients With APECED Have Increased Early Mortality Due to Endocrine Causes, Malignancies and infections.
The Journal of clinical endocrinology and metabolismPrimary Immunodeficiency with Severe Multi-Organ Immune Dysregulation.
Case reports in immunologyParoxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia!
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieA novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1.
Annals of pediatric endocrinology & metabolismAmino Acid Polymorphisms in Hla Class II Differentiate Between Thyroid and Polyglandular Autoimmunity.
The Journal of clinical endocrinology and metabolismAssociation of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study.
Immunological investigationsDelay 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 metabolismInfertility and pregnancy in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: More than just primary ovarian failure?
American journal of reproductive immunology (New York, N.Y. : 1989)Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance.
Science translational medicineAutoimmune Polyendocrinopathy.
The Journal of clinical endocrinology and metabolismProfiling Autoantibodies against Salivary Proteins in Sicca Conditions.
Journal of dental researchAIRE expression controls the peripheral selection of autoreactive B cells.
Science immunologyAlopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases.
International journal of dermatologySerotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED.
Endocrine connectionsLessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Immunological reviews[Endocrine complications in primary immunodeficiency diseases].
Orvosi hetilapChronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.
Frontiers in immunologyHypoparathyroidism in children: a study of eight cases.
La Tunisie medicaleCalcium-Sensing Receptor Autoantibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1: Epitopes, Specificity, Functional Affinity, IgG Subclass, and Effects on Receptor Activity.
Journal of immunology (Baltimore, Md. : 1950)Reduction of Total Brain and Cerebellum Volumes Associated With Neuronal Autoantibodies in Patients With APECED.
The Journal of clinical endocrinology and metabolismThe 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.)Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1.
Frontiers in endocrinologyA novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata.
JAAD case reportsDevelopment and Validation of an Ultrasensitive Single Molecule Array Digital Enzyme-linked Immunosorbent Assay for Human Interferon-α.
Journal of visualized experiments : JoVEBreakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-like Autoimmune Disease.
Journal of immunology (Baltimore, Md. : 1950)[Rheumatological manifestations in primary immunodeficiency diseases].
Orvosi hetilapAire is not essential for regulating neuroinflammatory disease in mice transgenic for human autoimmune-diseases associated MHC class II genes HLA-DR2b and HLA-DR4.
Cellular immunologyThe Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages.
Frontiers in immunologyIn vitro maturation of oocytes from excised ovarian tissue in a patient with autoimmune ovarian insufficiency possibly associated with Epstein-Barr virus infection.
Reproductive biology and endocrinology : RB&EIntegrity of IKK/NF-κB Shields Thymic Stroma That Suppresses Susceptibility to Autoimmunity, Fungal Infection, and Carcinogenesis.
BioEssays : news and reviews in molecular, cellular and developmental biologyRapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.
Cold Spring Harbor molecular case studiesBeyond APECED: An update on the role of the autoimmune regulator gene (AIRE) in physiology and disease.
Autoimmunity reviewsAssociation pernicious anemia and autoimmune polyendocrinopathy: a retrospective study.
Journal of medicine and lifeApproach to a Child with Primary Immunodeficiency Made Simple.
Indian dermatology online journalGroup 6. Modalities and frequency of monitoring of patients with adrenal insufficiency. Patient education.
Annales d'endocrinologieDominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
Journal of autoimmunityUpdate on Aire and thymic negative selection.
ImmunologyOesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation.
United European gastroenterology journalAutoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes.
Frontiers in immunologyClonal 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 new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
ImmunogeneticsChildhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.
Frontiers in immunologyChronic Candidiasis in Children.
Current allergy and asthma reportsAutoreactive T Cells and Chronic Fungal Infection Drive Esophageal Carcinogenesis.
Cell host & microbeNovel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children.
Italian journal of pediatricsOral lichen planus in childhood: a case series.
International journal of dermatologyDNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.
The Journal of biological chemistryUnexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome.
Journal of pediatric endocrinology & metabolism : JPEM[Cancer and mycoses and literature review].
Bulletin de la Societe de pathologie exotique (1990)Pathogenic and Protective Autoantibodies in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED).
Antibodies (Basel, Switzerland)Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.
Clinical & translational immunologyIL-6-specific autoantibodies among APECED and thymoma patients.
Immunity, inflammation and diseaseAutoimmune Regulator Expression in DC2.4 Cells Regulates the NF-κB Signaling and Cytokine Expression of the Toll-Like Receptor 3 Pathway.
International journal of molecular sciencesAutoimmune polyendocrinopathy and hypophysitis after Puumala hantavirus infection.
Endocrinology, diabetes & metabolism case reportsOcular manifestations of autoimmune polyendocrinopathy syndrome type 1.
Current opinion in ophthalmologyNovel Findings into AIRE Genetics and Functioning: Clinical Implications.
Frontiers in pediatricsAssociações
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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.
- First-in-class anti-human CD45RC antibody targets CD45RChigh T and B cells to mitigate pathogenic immune responses.Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41174880mais citado
- 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:282196(Orphanet)
- MONDO:0017278(MONDO)
- GARD:21116(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q675311(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
