Autoimunidade é a falha em uma divisão funcional do sistema imunológico chamada de autotolerância, que resulta em respostas imunes contra as células e tecidos do próprio organismo. Qualquer doença que resulte deste tipo de resposta é chamada de doença autoimune. Exemplos famosos incluem a diabetes mellitus tipo 1, lúpus eritematoso sistêmico, síndrome de Sjögren, tireoidite de Hashimoto, doença de Graves e artrite reumatóide.
Introdução
O que você precisa saber de cara
Doença rara autoimune caracterizada por múltiplos distúrbios endócrinos e não endócrinos, incluindo alopecia, vitiligo, iridociclite e anemia macrocítica. Pode apresentar nefrite túbulo-intersticial, osteopenia, gastrite atrófica e leucopenia.
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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 32 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
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 4
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
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Publicações mais relevantes
Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.
Este estudo investigou como diferentes mutações no gene AIRE, causador da Síndrome Poliendócrina Autoimune Tipo 1 (APS-1), afetam as células do timo (mTECs) cruciais para a tolerância imunológica. Os pesquisadores descobriram que mutações distintas resultam em alterações nos programas genéticos e no comportamento das mTECs, impactando a apresentação de autoantígenos e a interação celular. Para pacientes e médicos, isso oferece insights sobre como falhas na tolerância imunológica levam à APS-1, sugerindo que a especificidade da mutação pode influenciar as manifestações clínicas e orientar futuras estratégias diagnósticas e terapêuticas mais direcionadas.
🇧🇷 traduzidoPediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.
A síndrome IPEX frequentemente causa dermatite grave e refratária. Este estudo demonstrou que o Dupilumab, um medicamento que atua bloqueando vias inflamatórias específicas, foi altamente eficaz no tratamento da dermatite severa em um paciente pediátrico com IPEX que não respondia a terapias convencionais. Para pacientes e médicos, isso significa que o Dupilumab representa uma nova e promissora opção terapêutica, pois não só melhorou drasticamente a condição da pele (EASI de 24.8 para 0.4), mas também modulou a resposta imunológica, reduzindo a inflamação e promovendo células reguladoras, oferecendo alívio significativo para esta condição desafiadora.
🇧🇷 traduzidoIntravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.
Este estudo retrospectivo com pacientes APECED concluiu que os marcadores obtidos em testes de tolerância à glicose intravenosa (IVGTTs) não são preditivos do desenvolvimento de diabetes mellitus (DM). Embora a tolerância à glicose diminua naturalmente com a idade nesta população, e níveis mais altos de insulina em jejum fossem observados em jovens que desenvolveram DM, essas medidas não se mostraram eficazes para prever o início da doença. Para médicos e pacientes, isso significa que os IVGTTs não devem ser usados para prever quem desenvolverá diabetes em APECED.
🇧🇷 traduzidoAutoimmune hepatitis and immune dysregulation: A case series.
Este estudo pediátrico revela que a hepatite autoimune (HAI) pode estar associada a erros inatos da imunidade (EII) em uma parcela dos pacientes, manifestando-se com sinais como infecções recorrentes, problemas de pele, citopenias ou poliendocrinopatias. Para pacientes e seus familiares, é importante estar atento a esses sinais adicionais que podem indicar uma EII subjacente à HAI. Para médicos, isso significa que é crucial procurar ativamente por esses sinais de desregulação imunológica em pacientes com HAI e, inversamente, ter um limiar baixo para investigar problemas hepáticos em pacientes com EII, considerando testes genéticos para um diagnóstico mais preciso e um melhor entendimento do tratamento.
🇧🇷 traduzidoA novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Este artigo descreve uma nova variante genética no gene AIRE (AIREC337F) que causa uma doença autoimune semelhante à APECED, mas de forma dominante, ou seja, basta uma cópia alterada do gene. Pacientes com esta variante apresentaram sintomas como hipoparatireoidismo, vitiligo, anemia e problemas ectodérmicos, mas notavelmente **não tinham candidíase**, o que diferencia este perfil do APECED clássico. Essa descoberta é crucial para médicos e pacientes, pois expande o leque de apresentações clínicas das doenças autoimunes ligadas ao gene AIRE, permitindo um diagnóstico mais amplo e precoce mesmo na ausência de infecções fúngicas.
🇧🇷 traduzidoPublicações recentes
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.
📚 EuropePMC209 artigos no totalmostrando 127
Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.
Human molecular geneticsPediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.
Journal of clinical immunologyA novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Journal of human immunityIntravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.
Journal of the Endocrine SocietyCase Report: Autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease.
Frontiers in endocrinologyCyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndrome.
Biomedica : revista del Instituto Nacional de SaludAutoimmune 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[A rare case of autoimmune polyglandular syndrome type 2 in an elderly patient].
MedicinaA case-control study on autoimmune polyendocrine syndromes in patients with systemic lupus erythematosus.
Rheumatology (Oxford, England)When Hashimoto's Thyroiditis Masks Biermer's Disease: A Revealing Case of Autoimmune Polyendocrinopathy.
CureusAutoimmune hyperglycemia: beyond type 1 diabetes.
Acta diabetologicaLongitudinal Immune Profiling in Autoimmune Polyendocrine Syndrome Type 1.
Scandinavian journal of immunologyAnti-perilipin-1 autoantibodies in autoimmune Addison's disease and related endocrine disorders.
AutoimmunityDetection rate and clinical characteristics of coexisting autoimmune diseases in children with Graves' disease: a single-center study from China.
EndocrineRapid 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 : PTRNeurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.
Journal of clinical immunologyVKH with APECED in a Two-Year-Old Child: A Rare Concomitant Diagnosis in an Unprecedented Age.
Ocular immunology and inflammationIncreased type 1 inflammation in gynecologic cervicovaginal samples in patients with APS-1.
The Journal of allergy and clinical immunology[Autoimmune polyendocrine syndrome in adults. Focus on rheumatological aspects of the problem: A review].
Terapevticheskii arkhivA case report of anti-GAD65 antibody-positive autoimmune encephalitis in children associated with autoimmune polyendocrine syndrome type-II and literature review.
Frontiers in immunologyAutoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.
NatureAutoimmune polyglandular syndrome type 4: experience from a single reference center.
Frontiers in endocrinologyInterleukin (IL)-23, IL-31, and IL-33 Play a Role in the Course of Autoimmune Endocrine Diseases.
Endocrine, metabolic & immune disorders drug targetsSuccessful live birth following a short course of glucocorticoid suppression in a patient with autoimmune polyglandular syndrome type 2 and premature ovarian insufficiency: A case report.
The journal of obstetrics and gynaecology researchBone 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 endocrinologyA 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 investigationOcular Sarcoidosis and Autoimmune Polyglandular Syndrome Type 2: A Case Report.
Ocular immunology and inflammationAdrenal crisis prompted by SARS-CoV-2 infection in a patient with autoimmune polyglandular syndrome type 1 (APS type 1).
Endokrynologia PolskaAutoimmune 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 therapyEarly vs late histological confirmation of coeliac disease in children with new-onset type 1 diabetes.
DiabetologiaPolyendocrine Autoimmunity and Diabetic Ketoacidosis Following Anti-PD-1 and Interferon α.
PediatricsClinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study.
Journal of pediatric endocrinology & metabolism : JPEMA Case Report of Fatal Mucormycosis in a 30-Year-Old Patient with Autoimmune Polyendocrine Syndrome Type 1.
Journal of clinical immunologyCepharanthine Blocks Presentation of Thyroid and Islet Peptides in a Novel Humanized Autoimmune Diabetes and Thyroiditis Mouse Model.
Frontiers in immunologyAutoimmune 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 metabolismAdult-Onset Autoimmune Enteropathy in an European Tertiary Referral Center.
Clinical and translational gastroenterologyCharacterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.
Orphanet journal of rare diseasesReport of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
Italian journal of pediatricsMild COVID-19 despite autoantibodies against type I IFNs in autoimmune polyendocrine syndrome type 1.
The Journal of clinical investigationAutoimmune 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 oncologyAutoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.
International journal of molecular sciencesAcquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1.
BMC medical genomics[New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome].
Revista chilena de pediatria[Instrumental and laboratory parameters of myocardial function in adult patients with autoimmune polyglandular syndrome type 2, 3].
Problemy endokrinologii[Immunoendocrinology - issues and challenges of today].
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 : CIIAlopecia 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 endocrinologyICPis-Induced Autoimmune Polyendocrine Syndrome Type 2: A Review of the Literature and a Protocol for Optimal Management.
The Journal of clinical endocrinology and metabolismAutoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.
Journal of endocrinological investigationFirst proof of association between autoimmune polyglandular syndrome and multiple endocrine neoplasia in humans.
Endocrine journalA Patient with Fulminant Myasthenia Gravis Is Seropositive for Both AChR and LRP4 Antibodies, Complicated by Autoimmune Polyglandular Syndrome Type 3.
Internal medicine (Tokyo, Japan)A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.
MedicinePrevalence of other autoimmune diseases in polyglandular autoimmune syndromes type II and III.
Journal of endocrinological investigationChronic cutaneous candidiasis in children: should we stop there? Report of two cases associated with auto-immune polyendocrinopathy syndrome type I.
BMC pediatricsAutoimmune polyendocrine syndrome type 4 with systemic lupus erythematosus and anti-phospholipid syndrome.
Chinese medical journalAutoimmune polyglandular syndrome type II with co-manifestation of Addison's and Graves' disease in a 15-year-old boy: case report and literature review.
Journal of pediatric endocrinology & metabolism : JPEMAutoimmune polyglandular syndrome type III associated with antineutrophil cytoplasmic autoantibody-mediated crescentic glomerulonephritis: A case report and literature review.
MedicineAutoimmune Polyglandular Syndrome type 2.
Revista da Associacao Medica Brasileira (1992)A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1.
Annals of pediatric endocrinology & metabolismType I Diabetes is the Main Cost Driver in Autoimmune Polyendocrinopathy.
The Journal of clinical endocrinology and metabolismScreening 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 Okayama[Endoscopic treatment for gastric carcinoid tumor in a patient with type A gastritis complicated with autoimmune polyendocrine syndrome: a case report].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyHematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome.
Pediatric diabetesAutoimmune Polyendocrinopathy.
The Journal of clinical endocrinology and metabolismJaundice and anaemia as presenting features of an incomplete autoimmune polyglandular syndrome type II.
BMJ case reportsNew Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.
Frontiers in immunologyThe 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 reportsHLA-DQB1 Position 57 Defines Susceptibility to Isolated and Polyglandular Autoimmunity in Adults: Interaction With Gender.
The Journal of clinical endocrinology and metabolism21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I.
Clinical and experimental immunologyAggressive treatment in paediatric or young patients with drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is associated with future development of type III polyglandular autoimmune syndrome.
BMJ case reports[Schmidt’s syndrome: a difficult diagnosis in the Latin American context].
Revista medica del Instituto Mexicano del Seguro SocialAire 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 immunologyConcurrent 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 metabolismAssociation pernicious anemia and autoimmune polyendocrinopathy: a retrospective study.
Journal of medicine and lifeLong-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
The Journal of allergy and clinical immunologyA rare case of polyglandular autoimmune syndrome type IIIc with primary antibody failure.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyA 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 endocrinologyCurcumin attenuates the scurfy-induced immune disorder, a model of IPEX syndrome, with inhibiting Th1/Th2/Th17 responses in mice.
Phytomedicine : international journal of phytotherapy and phytopharmacologyAltered expression of circadian clock genes in polyglandular autoimmune syndrome type III.
EndocrineClonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment.
Scandinavian journal of immunologyImpaired salivary gland activity in patients with autoimmune polyendocrine syndrome type I.
AutoimmunityGAD antibody-associated limbic encephalitis in a young woman with APECED.
Endocrinology, diabetes & metabolism case reportsIdentification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.
AutoimmunityA 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 letters[Endocrinology and interdisciplinary consultation in internal medicine : Illustrated using the example of polyglandular autoimmune syndrome].
Der Internist[Postpartum thyroiditis as the first clinical manifestation of autoimmune polyendocrine syndrome type 2 – case report].
Przeglad lekarskiA Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans.
The Journal of clinical endocrinology and metabolismDelayed diagnosis with autoimmune polyglandular syndrome type 2 causing acute adrenal crisis: A case report.
MedicineNovel Findings into AIRE Genetics and Functioning: Clinical Implications.
Frontiers in pediatricsRare case of nephrocalcinosis in a 14-year-old girl: Questions.
Pediatric nephrology (Berlin, Germany)An autoimmune polyglandular syndrome complicated with celiac disease and autoimmune hepatitis.
Annals of hepatologyIdentification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism.
Clinical endocrinologyGASTRIC CARCINOID TYPE 1 IN A PATIENT WITH AUTOIMMUNE POLYGLANDULAR SYNDROME: ADDITIONAL ENDOCRINOLOGICAL EVALUATION REQUIRED.
Acta clinica CroaticaEstrogen turns down "the AIRE".
The Journal of clinical investigationAIRE expands: new roles in immune tolerance and beyond.
Nature reviews. ImmunologyAIRE 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 endocrinologyProgressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1.
The Journal of clinical endocrinology and metabolismMeta-analysis of STAT4 and IFIH1 polymorphisms in type 1 diabetes mellitus patients with autoimmune polyglandular syndrome type III.
Genetics and molecular research : GMRAutoimmune Polyglandular Syndrome Type 2 with Alopecia Universalis and Hypoparathyroidism.
The Journal of the Association of Physicians of India[Autoimmune diseases in type 1A diabetes mellitus].
Revista medica de ChileGenetics of Autoimmune Thyroiditis in Type 1 Diabetes Reveals a Novel Association With DPB1*0201: Data From the Type 1 Diabetes Genetics Consortium.
Diabetes careKeratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
CorneaGastrointestinal Disorder Associated with Olmesartan Mimics Autoimmune Enteropathy.
PloS oneTransglutaminase 4 as a prostate autoantigen in male subfertility.
Science translational medicineA Case of Autoimmune Polyglandular Syndrome (APS) Type II with Hypothyroidism, Hypoadrenalism, and Celiac Disease - A Rare Combination.
Journal of clinical and diagnostic research : JCDRGenome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.
Journal of autoimmunityAutoimmune spontaneous chronic urticaria and generalized myasthenia gravis in a patient with polyglandular autoimmune syndrome type 3.
Muscle & nerve[An autoimmune disease often does not come alone].
MMW Fortschritte der MedizinAssociações
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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.
- Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.
- 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
- A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
- 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.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:227990(Orphanet)
- MONDO:0016423(MONDO)
- GARD:20567(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55786214(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
