Raras
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Poliendocrinopatia autoimune tipo 4
ORPHA:227990CID-10 · E31.0CID-11 · 5B00DOENÇA RARA

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.

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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.

Publicações científicas
548 artigos
Último publicado: 2026 Dec
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E31.0
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
5 sintomas
🧬
Pele e cabelo
3 sintomas
🩸
Sangue
3 sintomas
🫘
Rins
2 sintomas
🛡️
Imunológico
2 sintomas
🫃
Digestivo
2 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

100%prev.
Autoimunidade
55%prev.
Anemia macrocítica
Frequente (79-30%)
55%prev.
Gastrite atrófica
Frequente (79-30%)
55%prev.
Doença celíaca
Frequente (79-30%)
55%prev.
Positividade de autoanticorpos
Frequente (79-30%)
55%prev.
Diabetes mellitus tipo 1
Frequente (79-30%)
32sintomas
Muito frequente (1)
Frequente (5)
Ocasional (6)
Muito raro (20)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.

AutoimunidadeAutoimmunity
Muito frequente100%
Anemia macrocíticaMacrocytic anemia
Frequente (79-30%)55%
Gastrite atróficaAtrophic gastritis
Frequente (79-30%)55%
Doença celíacaCeliac disease
Frequente (79-30%)55%
Positividade de autoanticorposAutoimmune antibody positivity
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico548PubMed
Últimos 10 anos127publicações
Pico202016 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
204 papers (10 anos)
#1

Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.

Human molecular genetics2026 Feb 23

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.

🇧🇷 traduzido
#2

Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.

Journal of clinical immunology2026 Feb 07

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.

🇧🇷 traduzido
#3

Intravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.

Journal of the Endocrine Society2026 Jan

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.

🇧🇷 traduzido
#4

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 Liver2025 Nov

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.

🇧🇷 traduzido
#5

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.

Journal of human immunity2025 Nov 03

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC209 artigos no totalmostrando 127

2026

Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.

Human molecular genetics
2026

Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.

Journal of clinical immunology
2025

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.

Journal of human immunity
2026

Intravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.

Journal of the Endocrine Society
2025

Case Report: Autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease.

Frontiers in endocrinology
2025

Cyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndrome.

Biomedica : revista del Instituto Nacional de Salud
2025

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

[A rare case of autoimmune polyglandular syndrome type 2 in an elderly patient].

Medicina
2025

A case-control study on autoimmune polyendocrine syndromes in patients with systemic lupus erythematosus.

Rheumatology (Oxford, England)
2025

When Hashimoto's Thyroiditis Masks Biermer's Disease: A Revealing Case of Autoimmune Polyendocrinopathy.

Cureus
2025

Autoimmune hyperglycemia: beyond type 1 diabetes.

Acta diabetologica
2025

Longitudinal Immune Profiling in Autoimmune Polyendocrine Syndrome Type 1.

Scandinavian journal of immunology
2025

Anti-perilipin-1 autoantibodies in autoimmune Addison's disease and related endocrine disorders.

Autoimmunity
2025

Detection rate and clinical characteristics of coexisting autoimmune diseases in children with Graves' disease: a single-center study from China.

Endocrine
2024

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Allergologie select
2025

Systematic Analysis and Network Mapping of Disease Associations in Autoimmune Polyglandular Syndrome.

The Journal of clinical endocrinology and metabolism
2024

Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.

Journal of clinical immunology
2024

Salvianolic acid B alleviates autoimmunity in Treg-deficient mice via inhibiting IL2-STAT5 signaling.

Phytotherapy research : PTR
2024

Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.

Journal of clinical immunology
2024

VKH with APECED in a Two-Year-Old Child: A Rare Concomitant Diagnosis in an Unprecedented Age.

Ocular immunology and inflammation
2024

Increased type 1 inflammation in gynecologic cervicovaginal samples in patients with APS-1.

The Journal of allergy and clinical immunology
2023

[Autoimmune polyendocrine syndrome in adults. Focus on rheumatological aspects of the problem: A review].

Terapevticheskii arkhiv
2023

A case report of anti-GAD65 antibody-positive autoimmune encephalitis in children associated with autoimmune polyendocrine syndrome type-II and literature review.

Frontiers in immunology
2023

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.

Nature
2023

Autoimmune polyglandular syndrome type 4: experience from a single reference center.

Frontiers in endocrinology
2024

Interleukin (IL)-23, IL-31, and IL-33 Play a Role in the Course of Autoimmune Endocrine Diseases.

Endocrine, metabolic & immune disorders drug targets
2023

Successful 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 research
2023

Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases.

Calcified tissue international
2023

Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a retrospective study.

European journal of endocrinology
2023

A 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 immunology
2023

Type 3 autoimmune polyglandular syndrome (APS-3) or type 3 multiple autoimmune syndrome (MAS-3): an expanding galaxy.

Journal of endocrinological investigation
2024

Ocular Sarcoidosis and Autoimmune Polyglandular Syndrome Type 2: A Case Report.

Ocular immunology and inflammation
2022

Adrenal crisis prompted by SARS-CoV-2 infection in a patient with autoimmune polyglandular syndrome type 1 (APS type 1).

Endokrynologia Polska
2022

Autoimmune 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 therapy
2022

Early vs late histological confirmation of coeliac disease in children with new-onset type 1 diabetes.

Diabetologia
2022

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

Pediatrics
2022

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

Journal of pediatric endocrinology & metabolism : JPEM
2022

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

Journal of clinical immunology
2021

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

Frontiers in immunology
2019

Autoimmune thyroiditis - track towards autoimmune polyendocrinopathy type III.

Archive of clinical cases
2022

Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies.

The Journal of clinical endocrinology and metabolism
2021

Adult-Onset Autoimmune Enteropathy in an European Tertiary Referral Center.

Clinical and translational gastroenterology
2021

Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.

Orphanet journal of rare diseases
2021

Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

Italian journal of pediatrics
2021

Mild COVID-19 despite autoantibodies against type I IFNs in autoimmune polyendocrine syndrome type 1.

The Journal of clinical investigation
2021

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

Journal of endocrinological investigation
2021

Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity.

Endocrine
2021

Autoinmune polyendocrinopathy.

Medicina clinica
2021

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.

BMJ case reports
2022

Autoimmune 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 oncology
2021

Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.

International journal of molecular sciences
2021

Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1.

BMC medical genomics
2020

[New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome].

Revista chilena de pediatria
2020

[Instrumental and laboratory parameters of myocardial function in adult patients with autoimmune polyglandular syndrome type 2, 3].

Problemy endokrinologii
2020

[Immunoendocrinology - issues and challenges of today].

Problemy endokrinologii
2020

[The prevalence of newly diagnosed autoimmune diseases among patients with Graves' disease and autoimmune polyglandular syndrome of adults].

Terapevticheskii arkhiv
2020

Human-engineered Treg-like cells suppress FOXP3-deficient T cells but preserve adaptive immune responses in vivo.

Clinical & translational immunology
2021

Autoimmune polyendocrine syndrome induced by immune checkpoint inhibitors: a systematic review.

Cancer immunology, immunotherapy : CII
2020

Alopecia areata with autoimmune polyglandular syndrome type 3 showing type 1/Tc1 immunological inflammation.

European journal of dermatology : EJD
2021

Impact of periprocedural subcutaneous parathyroid hormone on control of hypocalcaemia in APS-1/APECED patients undergoing invasive procedures.

Clinical endocrinology
2020

ICPis-Induced Autoimmune Polyendocrine Syndrome Type 2: A Review of the Literature and a Protocol for Optimal Management.

The Journal of clinical endocrinology and metabolism
2021

Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.

Journal of endocrinological investigation
2020

First proof of association between autoimmune polyglandular syndrome and multiple endocrine neoplasia in humans.

Endocrine journal
2020

A Patient with Fulminant Myasthenia Gravis Is Seropositive for Both AChR and LRP4 Antibodies, Complicated by Autoimmune Polyglandular Syndrome Type 3.

Internal medicine (Tokyo, Japan)
2020

A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians.

Medicine
2020

Prevalence of other autoimmune diseases in polyglandular autoimmune syndromes type II and III.

Journal of endocrinological investigation
2020

Chronic cutaneous candidiasis in children: should we stop there? Report of two cases associated with auto-immune polyendocrinopathy syndrome type I.

BMC pediatrics
2020

Autoimmune polyendocrine syndrome type 4 with systemic lupus erythematosus and anti-phospholipid syndrome.

Chinese medical journal
2020

Autoimmune 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 : JPEM
2020

Autoimmune polyglandular syndrome type III associated with antineutrophil cytoplasmic autoantibody-mediated crescentic glomerulonephritis: A case report and literature review.

Medicine
2019

Autoimmune Polyglandular Syndrome type 2.

Revista da Associacao Medica Brasileira (1992)
2019

A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1.

Annals of pediatric endocrinology & metabolism
2020

Type I Diabetes is the Main Cost Driver in Autoimmune Polyendocrinopathy.

The Journal of clinical endocrinology and metabolism
2019

Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?

Journal of pediatric endocrinology & metabolism : JPEM
2019

A Patient with Type 3 Autoimmune Polyglandular Syndrome who Developed Systemic Lupus Erythematosus 8 years after the Diagnosis of Autoimmune Hepatitis.

Acta medica Okayama
2019

[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-enterology
2019

Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome.

Pediatric diabetes
2019

Autoimmune Polyendocrinopathy.

The Journal of clinical endocrinology and metabolism
2019

Jaundice and anaemia as presenting features of an incomplete autoimmune polyglandular syndrome type II.

BMJ case reports
2019

New 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 immunology
2019

The role of FOXP3+ regulatory T cells in human autoimmune and inflammatory diseases.

Clinical and experimental immunology
2019

Case of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis.

BMJ case reports
2019

HLA-DQB1 Position 57 Defines Susceptibility to Isolated and Polyglandular Autoimmunity in Adults: Interaction With Gender.

The Journal of clinical endocrinology and metabolism
2019

21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I.

Clinical and experimental immunology
2018

Aggressive 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
2018

[Schmidt’s syndrome: a difficult diagnosis in the Latin American context].

Revista medica del Instituto Mexicano del Seguro Social
2018

Aire 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 immunology
2018

Concurrent variant type 3 autoimmune polyglandular syndrome and pulmonary arterial hypertension in a Japanese woman.

Endocrine journal
2018

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.

Cold Spring Harbor molecular case studies
2018

PTPN22 and CTLA-4 Polymorphisms Are Associated With Polyglandular Autoimmunity.

The Journal of clinical endocrinology and metabolism
2017

Association pernicious anemia and autoimmune polyendocrinopathy: a retrospective study.

Journal of medicine and life
2018

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

The Journal of allergy and clinical immunology
2018

A rare case of polyglandular autoimmune syndrome type IIIc with primary antibody failure.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2017

A 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 making
2018

Autoantibodies against the calcium-sensing receptor and cytokines in autoimmune polyglandular syndromes types 2, 3 and 4.

Clinical endocrinology
2017

Curcumin 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 phytopharmacology
2018

Altered expression of circadian clock genes in polyglandular autoimmune syndrome type III.

Endocrine
2017

Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment.

Scandinavian journal of immunology
2017

Impaired salivary gland activity in patients with autoimmune polyendocrine syndrome type I.

Autoimmunity
2017

GAD antibody-associated limbic encephalitis in a young woman with APECED.

Endocrinology, diabetes & metabolism case reports
2017

Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.

Autoimmunity
2017

A 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
2017

[Endocrinology and interdisciplinary consultation in internal medicine : Illustrated using the example of polyglandular autoimmune syndrome].

Der Internist
2017

[Postpartum thyroiditis as the first clinical manifestation of autoimmune polyendocrine syndrome type 2 – case report].

Przeglad lekarski
2016

A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans.

The Journal of clinical endocrinology and metabolism
2016

Delayed diagnosis with autoimmune polyglandular syndrome type 2 causing acute adrenal crisis: A case report.

Medicine
2016

Novel Findings into AIRE Genetics and Functioning: Clinical Implications.

Frontiers in pediatrics
2017

Rare case of nephrocalcinosis in a 14-year-old girl: Questions.

Pediatric nephrology (Berlin, Germany)
2016

 An autoimmune polyglandular syndrome complicated with celiac disease and autoimmune hepatitis.

Annals of hepatology
2016

Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism.

Clinical endocrinology
2015

GASTRIC CARCINOID TYPE 1 IN A PATIENT WITH AUTOIMMUNE POLYGLANDULAR SYNDROME: ADDITIONAL ENDOCRINOLOGICAL EVALUATION REQUIRED.

Acta clinica Croatica
2016

Estrogen turns down "the AIRE".

The Journal of clinical investigation
2016

AIRE expands: new roles in immune tolerance and beyond.

Nature reviews. Immunology
2016

AIRE is not essential for the induction of human tolerogenic dendritic cells.

Autoimmunity
2016

Addison's disease with polyglandular autoimmunity carries a more than 2·5-fold risk for adrenal crises: German Health insurance data 2010-2013.

Clinical endocrinology
2016

Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1.

The Journal of clinical endocrinology and metabolism
2015

Meta-analysis of STAT4 and IFIH1 polymorphisms in type 1 diabetes mellitus patients with autoimmune polyglandular syndrome type III.

Genetics and molecular research : GMR
2015

Autoimmune Polyglandular Syndrome Type 2 with Alopecia Universalis and Hypoparathyroidism.

The Journal of the Association of Physicians of India
2015

[Autoimmune diseases in type 1A diabetes mellitus].

Revista medica de Chile
2015

Genetics of Autoimmune Thyroiditis in Type 1 Diabetes Reveals a Novel Association With DPB1*0201: Data From the Type 1 Diabetes Genetics Consortium.

Diabetes care
2015

Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.

Cornea
2015

Gastrointestinal Disorder Associated with Olmesartan Mimics Autoimmune Enteropathy.

PloS one
2015

Transglutaminase 4 as a prostate autoantigen in male subfertility.

Science translational medicine
2015

A Case of Autoimmune Polyglandular Syndrome (APS) Type II with Hypothyroidism, Hypoadrenalism, and Celiac Disease - A Rare Combination.

Journal of clinical and diagnostic research : JCDR
2015

Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.

Journal of autoimmunity
2015

Autoimmune spontaneous chronic urticaria and generalized myasthenia gravis in a patient with polyglandular autoimmune syndrome type 3.

Muscle & nerve
2015

[An autoimmune disease often does not come alone].

MMW Fortschritte der Medizin
Ver todos os 209 no EuropePMC

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Doenças relacionadas

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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.

  1. Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.
    Human molecular genetics· 2026· PMID 41686483mais citado
  2. Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.
    Journal of clinical immunology· 2026· PMID 41653277mais citado
  3. Intravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.
    Journal of the Endocrine Society· 2026· PMID 41394114mais citado
  4. 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
  5. A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
    Journal of human immunity· 2025· PMID 41608501mais citado
  6. Real world incidence, predictors and outcomes of endocrine immune-related adverse events following immune checkpoint inhibitors.
    Hum Vaccin Immunother· 2026· PMID 41800705recente
  7. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
    Genes (Basel)· 2026· PMID 41751543recente
  8. When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.
    Cureus· 2026· PMID 41728462recente
  9. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.
    J Pediatr Endocrinol Metab· 2026· PMID 41712317recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:227990(Orphanet)
  2. MONDO:0016423(MONDO)
  3. GARD:20567(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Poliendocrinopatia autoimune tipo 4
Compêndio · Raras BR

Poliendocrinopatia autoimune tipo 4

ORPHA:227990 · MONDO:0016423
CID-10
E31.0 · Insuficiência poliglandular auto-imune
CID-11
Início
Adult
MedGen
UMLS
C3266026
EuropePMC
Wikidata
Papers 10a
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