Raras
Buscar doenças, sintomas, genes...
Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infecções recorrentes
ORPHA:238569CID-10 · K52.8CID-11 ·  4A6YDOENÇA RARA

Doença rara de desregulação imunológica com imunodeficiência caracterizada por doença inflamatória intestinal grave e progressiva de início infantil com pancolite, doença perianal (ulceração, fístulas), infecções respiratórias, geniturinárias e cutâneas recorrentes, artrite e alto risco de linfoma de células B.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença rara de desregulação imunológica com imunodeficiência caracterizada por doença inflamatória intestinal grave e progressiva de início infantil com pancolite, doença perianal (ulceração, fístulas), infecções respiratórias, geniturinárias e cutâneas recorrentes, artrite e alto risco de linfoma de células B.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
80
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: K52.8
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
2 sintomas
🫁
Pulmão
1 sintomas
🧬
Pele e cabelo
1 sintomas
📏
Crescimento
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

Fístula retovaginal
Pancolite
Bronquite recorrente
Foliculite
Enterocolite
Abscesso perianal
13sintomas
Sem dados (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.

Fístula retovaginalRectovaginal fistula
PancolitePancolitis
Bronquite recorrenteRecurrent bronchitis
FoliculiteFolliculitis
EnterocoliteEnterocolitis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202480 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano 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

Genes associados

3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

IL10RBInterleukin-10 receptor subunit betaDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Shared cell surface receptor required for the activation of five class 2 cytokines: IL10, IL22, IL26, IL28, and IFNL1. The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (3)
Interleukin-20 family signalingOther interleukin signalingInterleukin-10 signaling
MECANISMO DE DOENÇA

Inflammatory bowel disease 25, autosomal recessive

A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
55.0 TPM
Baço
43.6 TPM
Linfócitos
37.6 TPM
Fibroblastos
34.0 TPM
Pulmão
28.4 TPM
OUTRAS DOENÇAS (3)
inflammatory bowel disease 25IL10-related early-onset inflammatory bowel diseasehepatitis B virus, susceptibility to
HGNC:5965UniProt:Q08334
IL10RAInterleukin-10 receptor subunit alphaDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Cell surface receptor for the cytokine IL10 that participates in IL10-mediated anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Upon binding to IL10, induces a conformational change in IL10RB, allowing IL10RB to bind IL10 as well (PubMed:16982608). In turn, the heterotetrameric assembly complex, composed of two subunits of IL10RA and IL10RB, activates the kinases JAK1 and TYK2 that are constitutively associated with IL10RA and IL10RB respectively (PubMed:

LOCALIZAÇÃO

Cell membraneCytoplasm

VIAS BIOLÓGICAS (2)
Interleukin-10 signalingNuclear events stimulated by ALK signaling in cancer
MECANISMO DE DOENÇA

Inflammatory bowel disease 28, autosomal recessive

A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

EXPRESSÃO TECIDUAL(Ubíquo)
Baço
149.9 TPM
Sangue
69.4 TPM
Pulmão
46.5 TPM
Intestino delgado
41.5 TPM
Linfócitos
30.5 TPM
OUTRAS DOENÇAS (2)
inflammatory bowel disease 28IL10-related early-onset inflammatory bowel disease
HGNC:5964UniProt:Q13651
IL10Interleukin-10Disease-causing germline mutation(s) (loss of function) inRestrito
FUNÇÃO

Major immune regulatory cytokine that acts on many cells of the immune system where it has profound anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Mechanistically, IL10 binds to its heterotetrameric receptor comprising IL10RA and IL10RB leading to JAK1 and STAT2-mediated phosphorylation of STAT3 (PubMed:16982608). In turn, STAT3 translocates to the nucleus where it drives expression of anti-inflammatory mediators (PubMed:18025162). Targets antigen-prese

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (6)
Interleukin-10 signalingFCGR3A-mediated IL10 synthesisCD163 mediating an anti-inflammatory responseSignaling by ALK fusions and activated point mutantsInterleukin-4 and Interleukin-13 signaling
EXPRESSÃO TECIDUAL(Tecido-específico)
Linfócitos
8.8 TPM
Baço
3.5 TPM
Adipose Visceral Omentum
3.2 TPM
Testículo
2.5 TPM
Pulmão
1.7 TPM
OUTRAS DOENÇAS (6)
systemic lupus erythematosusBehcet diseaseIL10-related early-onset inflammatory bowel diseaserheumatoid arthritis
HGNC:5962UniProt:P22301

Variantes genéticas (ClinVar)

174 variantes patogênicas registradas no ClinVar.

🧬 IL10: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 IL10: NM_000572.3(IL10):c.444+112A>T ()
🧬 IL10: NC_000001.10:g.(?_190829412)_(216061974_?)del ()
🧬 IL10: NC_000001.10:g.(?_200522516)_(208391267_?)dup ()
🧬 IL10: GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 ()
Ver todas no ClinVar

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 — Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infecções recorrentes

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

From Gut to Metabolism: Exploring the Intersection of Inflammatory Bowel Disease and Systemic Metabolic Dysfunction.

Journal of clinical gastroenterology2026 Mar 11

A Doença Inflamatória Intestinal (DII) é uma condição sistêmica complexa, frequentemente coexistindo com disfunções metabólicas como obesidade e diabetes. Essa conexão agrava a DII, reduz a eficácia dos tratamentos biológicos e *aumenta o risco de infecções*, perpetuando um ciclo de desregulação imune e lesão metabólica. Para pacientes e médicos, isso ressalta a importância da triagem metabólica e de uma abordagem multidisciplinar para otimizar o manejo da DII, visando melhorar resultados e desenvolver terapias que atuem tanto na inflamação intestinal quanto na disfunção metabólica.

🇧🇷 traduzido
#2

Are we missing early pancreatic dysfunction? Expanding faecal elastase testing beyond pancreatic disease.

Current opinion in gastroenterology2026 Mar 04

A Insuficiência Pancreática Exócrina (IPE) é mais comum do que se pensa em pacientes com sintomas gastrointestinais inespecíficos, como os da Síndrome do Intestino Irritável (SII), podendo afetar 11-21% e coexistir com outras condições como doença celíaca e DII. O exame de elastase fecal-1 (FE-1) é uma ferramenta crucial para diagnosticar a IPE, que pode ser um marcador precoce de disfunção pancreática em alguns casos, cujos sintomas muitas vezes se sobrepõem a outras doenças. Médicos e pacientes devem considerar um rastreio mais amplo, pois a identificação precoce da IPE permite intervenções, como mudanças no estilo de vida, com potenciais benefícios a longo prazo, expandindo sua relevância para além das doenças pancreáticas tradicionais.

🇧🇷 traduzido
#3

Metabotherapy for intestinal disease: using metabolites to prevent and treat disorders of the gut.

Nature reviews. Gastroenterology &amp; hepatology2026 Mar 02

Este artigo destaca que pequenas moléculas no intestino, provenientes da dieta, microrganismos e do próprio corpo, são cruciais para a saúde digestiva e estão diretamente envolvidas no desenvolvimento de diversas doenças intestinais, como inflamação e câncer. A *metaboterapia*, que consiste em ajustar esses níveis de metabólitos por via oral, surge como uma estratégia terapêutica promissora e ainda subutilizada para prevenir e tratar um vasto leque de condições gastrointestinais, oferecendo novas abordagens para pacientes e médicos.

🇧🇷 traduzido
#4

Fusobacterium nucleatum plays a pathogenic role in a murine model of irritable bowel syndrome by modulating intestinal purine metabolism and promoting mast cell activation.

Gut microbes2026 Dec 31

Um estudo em modelos murinos identificou a bactéria *Fusobacterium nucleatum* como um agente patogênico chave na Síndrome do Intestino Irritável (SII). Essa bactéria induz sintomas de SII ao ativar células imunes (mastócitos) através de uma alteração no metabolismo de purinas no intestino, que leva à produção de ácido úrico. Os resultados sugerem promissoras abordagens terapêuticas, incluindo o uso de antibióticos (como metronidazol) ou a modulação da atividade dos mastócitos, focando em pacientes com SII onde *F. nucleatum* possa estar presente.

🇧🇷 traduzido
#5

IgA Nephropathy in Adults: A Review.

JAMA2026 Mar 03

A Nefropatia por IgA (NIgA) é a doença glomerular imunomediada mais comum, afetando os rins e podendo levar à insuficiência renal em até metade dos casos em 10 anos. Geralmente diagnosticada em adultos jovens, é suspeitada por hematúria ou proteinúria e confirmada por biópsia renal em casos com proteinúria >0.5g/dia. O tratamento foca em modificações de estilo de vida, controle rigoroso da pressão arterial (alvo <120/70 mmHg), e terapias que visam reduzir a formação de imunocomplexos de IgA, diminuir a lesão glomerular e gerenciar a perda de néfrons.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Adherence to Recommended Immunisation Schedules for Patients With Inflammatory Bowel Disease (IBD) on Biologics: A Retrospective Study at Our Lady's Hospital, Navan, Ireland.

Cureus
2026

From Gut to Metabolism: Exploring the Intersection of Inflammatory Bowel Disease and Systemic Metabolic Dysfunction.

Journal of clinical gastroenterology
2026

Beyond the binary: understanding inflammatory bowel disease in the context of HIV-induced immunodeficiency.

Expert review of clinical immunology
2026

Are we missing early pancreatic dysfunction? Expanding faecal elastase testing beyond pancreatic disease.

Current opinion in gastroenterology
2026

Metabotherapy for intestinal disease: using metabolites to prevent and treat disorders of the gut.

Nature reviews. Gastroenterology &amp; hepatology
2026

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Frontiers in immunology
2026

Emerging Therapeutic Approaches for Modulating the Intestinal Microbiota.

Pharmaceutics
2026

How loss-of-function mutations in IFIH1 contribute to infectious and/or inflammatory disease - a systematic review.

Journal of translational autoimmunity
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Functional role of aquaporin 3 in osmoregulation, intestinal homeostasis, and antiviral defense in Pacific white shrimp (Litopenaeus vannamei).

Fish &amp; shellfish immunology
2026

Newly Diagnosed Crohn's Disease After SARS-CoV-2 Infection.

Case reports in gastrointestinal medicine
2026

Science of fecal microbiota transplant: From history to cutting-edge clinical practice.

World journal of gastrointestinal endoscopy
2026

Fusobacterium nucleatum plays a pathogenic role in a murine model of irritable bowel syndrome by modulating intestinal purine metabolism and promoting mast cell activation.

Gut microbes
2026

Microbiota-Driven Strategies for Managing IBD-Associated Risks: From Infections to Mental Health.

Pharmaceuticals (Basel, Switzerland)
2026

IgA Nephropathy in Adults: A Review.

JAMA
2026

Delphi consensus: First-line use of biologics and small molecules in hidradenitis suppurativa.

Journal of the European Academy of Dermatology and Venereology : JEADV
2026

ACE2 expression by colonic epithelial cells is associated with viral infection, immunity, and energy metabolism.

Scientific reports
2026

STAT3 gain-of-function mutation presenting with adult-onset recurrent abdominal pain, fever and lymphadenopathy, managed by JAK inhibitor therapy.

BMJ case reports
2025

The effect of Massa Medicata Fermentata on the cytokine secretion of colonic mucosa and visceral sensitivity in rats with IBS-D.

Frontiers in cellular and infection microbiology
2026

Behçet-like intestinal disease in a patient with trisomy 8-associated myelodysplastic syndrome (TRIAD).

BMJ case reports
2025

Exploring the Muco-Microbiotic Interface as a Hub for Microbial Metabolites and Immune Regulation in Gastroenteric Health and Disease.

Cells
2026

The food grade bacterium Lactobacillus helveticus VEL12193 promotes autophagy by releasing membrane vesicles.

Cell communication and signaling : CCS
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Molecular, Cellular, Tissue, and Organismal Functions of Type III Interferons.

Annual review of immunology
2025

SARS-CoV-2 infection during pregnancy and necrotizing enterocolitis: case report and review of the literature.

Italian journal of pediatrics
2025

Recent Trend of Laboratory Tests in Common Gastrointestinal Tract Disorders.

Diagnostics (Basel, Switzerland)
2025

Parasitic colitis misdiagnosis as inflammatory bowel disease in high-income settings and association with poor clinical outcomes when exposed to corticosteroids: a systematic review of case reports.

BMJ open gastroenterology
2026

Attenuation of a contemporary Chinese PRRSV-1 strain via serial cell passage and evaluation of its protective efficacy as a modified live virus vaccine candidate.

Virology
2025

The Human Archaeome: Commensals, Opportunists, or Emerging Pathogens?

Pathogens (Basel, Switzerland)
2026

RhCMV expands CCR5+ memory T cells and promotes SIV reservoir seeding in the gut mucosa.

JCI insight
2025

Necrotising Pancreatitis in a Patient with Crest Syndrome: A Rare Autoimmune Gastrointestinal Complication.

European journal of case reports in internal medicine
2025

The Regulatory Effect and Molecular Mechanism of the Anti-Lipopolysaccharide Factor-like Gene on the Resistance of Shrimp (Litopenaeus vannamei) to White Spot Syndrome Virus Infection.

Animals : an open access journal from MDPI
2025

CXCR5-engineered mesenchymal stromal cells home to spleen and mitigate post-sepsis syndrome by preventing secondary infection.

Stem cell research &amp; therapy
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Probiotics: mechanism of action and gastrointestinal health: gut guardians: unlocking the power of probiotics.

Journal of the science of food and agriculture
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An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.

Cellular &amp; molecular immunology
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The effect of SARS-CoV-2 infection on the liver function tests: a systematic review and meta-analysis of observational studies.

Przeglad gastroenterologiczny
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Identification of a PRDM1-regulated T cell network to regulate atherosclerotic plaque inflammation.

Genome medicine
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Microbiota-derived aromatic amino acid decarboxylases: linking microbial fitness and host neurochemical communication.

mBio
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Trends and hotspots in research of virus and gastrointestinal mucosal immunity: a bibliometric analysis of four decades.

Virology journal
2026

Altered distribution of tissue galectins correlates with mucosal dysregulation in SIV infection.

Journal of immunology (Baltimore, Md. : 1950)
2025

Unravelling γδ T-cell dysregulation in the gut and its implications for immune-mediated diseases.

Disease models &amp; mechanisms
2025

Post-acute Corticospinal and Spinal Tractopathy after Coronavirus Disease 2019: A Novel Post-infectious Neurological Syndrome?

Internal medicine (Tokyo, Japan)
2025

Heat-killed Lactobacillus acidophilus suppresses SARS-CoV-2 infection in the human intestinal epithelial cell line Caco-2.

Frontiers in cellular and infection microbiology
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Risk of new onset of immune-mediated diseases after SARS-CoV-2 infection: A systematic review and meta-analysis.

Seminars in arthritis and rheumatism
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Mechanisms and Nanomedicine Interventions of Acute Lung Injury Induced by Intestinal Ischemia-Reperfusion: A Mini Review.

International journal of nanomedicine
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The Role of Epstein-Barr Virus in the Pathogenesis of Autoimmune Diseases.

Medicina (Kaunas, Lithuania)
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Travellers' diarrhoea - solidifying our knowledgebase.

Current opinion in infectious diseases
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Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Frontiers in immunology
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Acute pancreatitis: Translating early mechanisms to bedside management.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
2025

Basel Long COVID Cohort Study (BALCoS): protocol of a prospective cohort study.

BMJ open
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Fecal Microbiota Transplantation for Disorders of Gut-Brain Interaction: Current Insights, Effectiveness, and Future Perspectives.

Current gastroenterology reports
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Pain and Sedative Medication Use Among Individuals With Inflammatory Bowel Disease: A Nationwide Population-Based Cohort Study.

Alimentary pharmacology &amp; therapeutics
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Increased Risk of Post-Acute Sequalae of COVID-19 in Patients With Immune-Mediated Inflammatory Diseases.

Gastro hep advances
2025

Durability of Antibody Responses to SARS-CoV-2 Vaccination over 12 Months in Pediatric Inflammatory Bowel Disease.

Vaccines
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Diagnostic Challenges in Enteropathies: A Histopathological Review.

Diagnostics (Basel, Switzerland)
2025

Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET).

EClinicalMedicine
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Rifaximin as a Therapeutic Ally in the Modulation of Dysbiosis: A Narrative Review of Its Applicability in Gastrointestinal Disorders.

GE Portuguese journal of gastroenterology
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Gastrointestinal Manifestations of Common Variable Immunodeficiency: A Mentored Review.

Digestive diseases and sciences
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Virulence of fowl adenovirus (FAdV) serotype 4 strains impacts cell proliferation and immune response of primary chicken-embryo intestinal epithelial cells.

Veterinary research
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Acquired Immunodeficiency Syndrome With Suspected Early Inflammatory Bowel Disease Diagnosed Following Gastrointestinal Symptoms.

Cureus
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Secondary hemophagocytic lymphohistiocytosis in a 5-month-old infant with IBD post-COVID-19: a case report.

Frontiers in pediatrics
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Dissection of the global responses of mandarin fish pyloric cecum to an acute ranavirus (MRV) infection reveals the formation of serositis and then ascites.

Journal of virology
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Toxoplasma gondii chronic infection decreases visceral nociception through peripheral opioid receptor signaling.

PLoS pathogens
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Challenges of concurrent HIV infection in the course and management of Crohn's disease.

Journal of medicine and life
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IL-17A-producing NKp44(-) group 3 innate lymphoid cells accumulate in Familial Adenomatous Polyposis duodenal tissue.

Nature communications
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A novel hemizygous nonsense variant in DOCK11 causes systemic inflammation and immunodeficiency.

Clinical immunology (Orlando, Fla.)
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Compendium of Bifidobacterium-based probiotics: characteristics and therapeutic impact on human diseases.

Microbiome research reports
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Tumour necrosis factor-α induces macromolecule translocation in HIV-derived duodenal organoids.

Frontiers in immunology
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Ηidradenitis suppurativa associated with autoimmunity in children and adolescents; a case-based review.

Rheumatology international
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Patients With Inflammatory Bowel Disease Are at Increased Risk of Respiratory Syncytial Virus Infections After Severe Acute Respiratory Syndrome Coronavirus 2 Infection: A Propensity-Matched Cohort Analysis.

Clinical and translational gastroenterology
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A Pilot Study on the Role of TRAFs in the Development of SARS-CoV-2 Infection Before and After Immunization with AstraZeneca Chadox1 in Mice.

Current issues in molecular biology
2024

SARS-CoV-2 Infection, Vaccination, and Irritable Bowel Syndrome in Veterans: A Cross-Sectional Study.

International journal of gastroenterology (New York, N.Y.)
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A transcriptional atlas of gut-innervating neurons reveals activation of interferon signaling and ferroptosis during intestinal inflammation.

Neuron
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V-domain Ig Suppressor of T cell Activation Expression During Hemorrhage or Sepsis-Induced Acute Respiratory Distress Syndrome: Insights From a Mouse Model.

The Journal of surgical research
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DRAM2 inhibits white spot syndrome virus infection via activating autophagy in Penaeus vannamei.

Fish &amp; shellfish immunology
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Advancements in the Pathogenesis, Diagnosis, and Therapeutic Implications of Intestinal Bacteria.

Current issues in molecular biology
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Psychological Stress-Induced Local Immune Response to Food Antigens Increases Pain Signaling Across the Gut in Mice.

Gastroenterology
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Combotherapies in immune-mediated inflammatory diseases: A study using the Clinical Data Warehouse from Paris Hospitals' Public Assistance.

Seminars in arthritis and rheumatism
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Pre-vaccination immune markers predict response to BNT162b2 mRNA vaccine in vulnerable groups - The CONVERS project, report from a pediatric tertiary hospital.

Vaccine
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Patients with Irritable Bowel Syndrome Exhibit Aberrant Expression of Endogenous Retroviruses and SETDB1.

Cells
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Microbial remodeling of gut tryptophan metabolism and indole-3-lactate production regulate epithelial barrier repair and viral suppression in human and simian immunodeficiency virus infections.

Mucosal immunology
2025

Determining the incidence, risk factors and biological drivers of irritable bowel syndrome (IBS) as part of the constellation of postacute sequelae of SARS-CoV-2 infection (PASC) outcomes in the Arizona CoVHORT-GI: a longitudinal cohort study.

BMJ open
2025

TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.

Clinical reviews in allergy &amp; immunology
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Mucus-penetrating microbiota drive chronic low-grade intestinal inflammation and metabolic dysregulation.

Gut microbes
2025

Hidradenitis suppurativa.

Lancet (London, England)
2024

Intestinal permeability, food antigens and the microbiome: a multifaceted perspective.

Frontiers in allergy
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Gut Microbiota Alterations in Patients With Kawasaki Disease.

Arteriosclerosis, thrombosis, and vascular biology
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Intestine-Decipher Engineered Capsules Protect Against Sepsis-induced Intestinal Injury via Broad-spectrum Anti-inflammation and Parthanatos Inhibition.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Revealing the dance of NLRP3: spatiotemporal patterns in inflammasome activation.

Immunometabolism (Cobham, Surrey)
2024

Bovine Colostrum in Pediatric Nutrition and Health.

Nutrients
2024

Protective effect of Haoqin Qingdan decoction on pulmonary and intestinal injury in mice with influenza viral pneumonia.

Frontiers in pharmacology
2024

Clostridium butyricum, a future star in sepsis treatment.

Frontiers in cellular and infection microbiology
2024

The Intestine in Acute and Long COVID: Pathophysiological Insights and Key Lessons.

The Yale journal of biology and medicine
2024

The microbiota metabolite, phloroglucinol, confers long-term protection against inflammation.

Gut microbes
2025

Modifiable Psychological Factors are Associated With Clusters of Pain, Fatigue, Fecal Incontinence, and Irritable Bowel Syndrome-Type Symptoms in Inflammatory Bowel Disease: A Latent Profile Analysis.

Journal of Crohn's &amp; colitis
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Dysbiosis of gut microbiota in COVID-19 is associated with intestinal DNA phage dynamics of lysogenic and lytic infection.

Microbiology spectrum
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Rapid systemic spread and minimal immune responses following SIVsab intrarectal transmission in African green monkeys.

JCI insight
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Shared genetic architecture between COVID-19 and irritable bowel syndrome: a large-scale genome-wide cross-trait analysis.

Frontiers in immunology
2024

Role of mucosal IgA antibodies as novel therapies to enhance mucosal barriers.

Seminars in immunopathology
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Review of Immunologic Manifestations of COVID-19 Infection and Vaccination.

Rheumatic diseases clinics of North America
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Clinical and immunological features of four patients with activation-induced cytidine deaminase deficiency: Renal amyloidosis and other presentations.

Annals of human genetics
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Hidradenitis Suppurativa from a Multi-Omic Scope.

Journal of cutaneous medicine and surgery
2024

Gastrointestinal pathophysiology in long COVID: Exploring roles of microbiota dysbiosis and serotonin dysregulation in post-infectious bowel symptoms.

Life sciences
2024

Functional yogurt: a comprehensive review of its nutritional composition and health benefits.

Food &amp; function
2024

Omicron XBB.1.5 subvariant causes severe pulmonary disease in K18-hACE-2 mice.

Frontiers in microbiology
2025

Durable Immune Response and Long-term Efficacy of COVID-19 Vaccination in Children With Inflammatory Bowel Disease.

Inflammatory bowel diseases
2024

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

International journal of molecular sciences
2024

Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in pediatric Inflammatory Bowel Disease: clinical characteristics and outcomes.

European journal of pediatrics
2024

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

Allergologie select
2024

Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome.

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology
2024

A host-adapted auxotrophic gut symbiont induces mucosal immunodeficiency.

Science (New York, N.Y.)
2024

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Journal of clinical immunology
2024

Immunodysregulation in immunodeficiency.

Allergy and asthma proceedings
2024

Immunodeficiency: Quantitative and qualitative phagocytic cell defects.

Allergy and asthma proceedings
2024

Microbiota and Lipotoxicity.

Advances in experimental medicine and biology
2024

Gastrointestinal tract organoids as novel tools in drug discovery.

Frontiers in pharmacology
2024

Constrictive Pericarditis and Protein-Losing Enteropathies: Exploring the Heart-Gut Axis.

Journal of clinical medicine
2024

Effects of Physical Exercise on the Microbiota in Irritable Bowel Syndrome.

Nutrients
2024

The Association between IL-1β and IL-18 Levels, Gut Barrier Disruption, and Monocyte Activation during Chronic Simian Immunodeficiency Virus Infection and Long-Term Suppressive Antiretroviral Therapy.

International journal of molecular sciences
2024

Inflammation: Is It a Healer, Confounder, or a Promoter of Cardiometabolic Risks?

Biomolecules
2024

Enterohemorrhagic Escherichia coli (EHEC) disrupts intestinal barrier integrity in translational canine stem cell-derived monolayers.

Microbiology spectrum
2024

Gut-derived memory γδ T17 cells exacerbate sepsis-induced acute lung injury in mice.

Nature communications
2024

Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis, Palmoplantar Pustulosis, and Neutrophilic Dermatoses: A GRAPPA 2023 Annual Meeting Update.

The Journal of rheumatology
2024

Impact of mechanical barrier damage and interleukin-17 on symptoms in patients with post-infectious irritable bowel syndrome.

British journal of hospital medicine (London, England : 2005)
2024

Gastrointestinal system involvement in patients with primary immunodeficiency: a single center experience.

Scandinavian journal of gastroenterology
2024

Tuberculosis and Immune Reconstitution Inflammatory Syndrome in Patients With Inflammatory Bowel Disease and Anti-TNFα Treatment: Insights From a French Multicenter Study and Systematic Literature Review With Emphasis on Paradoxical Anti-TNFα Resumption.

Open forum infectious diseases
2024

Prevalence and Risk Factors of Postacute Sequelae of COVID-19 in Adults With Systemic Autoimmune Rheumatic Diseases.

The Journal of rheumatology
2024

Clinical characteristics and the risk factors for the exacerbation of symptoms in patients with inflammatory bowel disease during the COVID-19 pandemic.

Frontiers in medicine
2024

Detection of SARS-CoV-2 Viral Genome and Viral Nucleocapsid in Various Organs and Systems.

International journal of molecular sciences
2024

Knowledge, Attitudes, and Practices Regarding Herpes Zoster Vaccination Among Specialists.

Population health management
2024

Guillain-Barré syndrome in ulcerative colitis and SARS-CoV-2 infection: a case report and literature review.

Future science OA
2024

The role of interleukin-36 in health and disease states.

Journal of the European Academy of Dermatology and Venereology : JEADV
2024

Gastrointestinal Conditions: Acute Infectious Gastroenteritis and Colitis.

FP essentials
2024

Current Developments in the Prevention and Improvement of Intestinal Disorders: A Mini-Review.

Endocrine, metabolic &amp; immune disorders drug targets
2024

Coombs-Negative Hemolytic Anemia in an Elderly COVID-19 Patient.

Cureus
2024

IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.

Scandinavian journal of immunology
2024

Differential Colonization and Mucus Ultrastructure Visualization in Bovine Ileal and Rectal Organoid-Derived Monolayers Exposed to Enterohemorrhagic Escherichia coli.

International journal of molecular sciences
2024

Mucosal vaccination in a murine gnotobiotic model of Giardia lamblia infection.

Infection and immunity
2024

Postprandial symptoms in disorders of gut-brain interaction and their potential as a treatment target.

Gut
2024

Campylobacter jejuni virulence factors: update on emerging issues and trends.

Journal of biomedical science
2024

A step closer to understanding how a diet high in simple carbohydrates may cause dysbiosis.

The Journal of clinical investigation
2024

Impact of COVID-19 on Pediatric Inflammatory Bowel Diseases-From Expectations to Reality.

Journal of personalized medicine
2024

Post-COVID-19 syndrome in everyday clinical practice: interdisciplinary expert position statement endorsed by the Polish Society of Civilization Diseases.

Polish archives of internal medicine
2024

Cytomegalovirus-Induced Hemophagocytic Lymphohistiocytosis in an Immunocompromised Patient with Inflammatory Bowel Disease.

Case reports in hematology
2024

Nociplastic pain mechanisms and toll-like receptors as promising targets for its management.

Pain
2024

Symptoms and Severity of COVID-19 in Patients with Immune-Mediated Inflammatory Diseases: Experience of a University Medical Center.

Autoimmune diseases
2024

An updated advancement of bifunctional IL-27 in inflammatory autoimmune diseases.

Frontiers in immunology
2024

The association of three vaccination doses with reduced gastrointestinal symptoms after severe acute respiratory syndrome coronavirus 2 infections in patients with inflammatory bowel disease.

Frontiers in medicine
2024

Extracellular sombrero vesicles are hallmarks of eosinophilic cytolytic degranulation in tissue sites of human diseases.

Journal of leukocyte biology
2024

An improved mouse model of sepsis based on intraperitoneal injections of the enriched culture of cecum slurry.

Life sciences
2024

Signatures of disease outcome severity in the intestinal fungal and bacterial microbiome of COVID-19 patients.

Frontiers in cellular and infection microbiology
2024

Role of autoantibodies in the pathophysiology of irritable bowel syndrome: a review.

Frontiers in physiology
2024

Dopamine receptor D2 confers colonization resistance via microbial metabolites.

Nature
2024

Impact of COVID-19 on paediatric chronic intestinal failure: A tertiary care children's hospital experience.

Journal of pediatric gastroenterology and nutrition
2024

Biomolecular Actions by Intestinal Endotoxemia in Metabolic Syndrome.

International journal of molecular sciences
2024

An Atypical Case of Yersinia enterocolitica Infection in a Patient Suspected With Ulcerative Colitis Flare-Up.

Cureus
2024

Celiac Disease-Related Conditions: Who to Test?

Gastroenterology
2024

[Indications and results of intestinal transplantation for short bowel syndrome after mesenteric ischemia].

Chirurgie (Heidelberg, Germany)
2024

From Viral Infection to Autoimmune Reaction: Exploring the Link between Human Herpesvirus 6 and Autoimmune Diseases.

Microorganisms
2025

Low-FODMAP diet and hidradenitis suppurativa: the role of nutritionists in the management of dermato-endocrine disorders.

Minerva endocrinology
2024

Humoral immune response and safety of SARS-CoV-2 vaccination in very early onset inflammatory bowel disease.

Journal of pediatric gastroenterology and nutrition
2024

Differences in enteric neuronal density in the NSE-Noggin mouse model across institutes.

Scientific reports
2023

Bifidobacterium adolescentis - a beneficial microbe.

Beneficial microbes
2024

Investigating the Impact of Varied Dietary Protein Levels on Litopenaeus vannamei: An Exploration of the Intestinal Microbiota and Transcriptome Responses.

Animals : an open access journal from MDPI
2024

Roles of ubiquitin-specific proteases in inflammatory diseases.

Frontiers in immunology
2024

SHIV-C109p5 NHP induces rapid disease progression in elderly macaques with extensive GI viral replication.

Journal of virology
2024

"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.

Journal of clinical immunology
2024

X-Linked Lymphoproliferative Syndrome: A Spectrum of Clinical and Immunological Profile and Novel Pathogenic Variants from Chandigarh, India.

International archives of allergy and immunology
2024

An Elderly Patient Developed Ulcerative Colitis after SARS-CoV-2 mRNA Vaccination: A Case Report and Review of the Literature.

Internal medicine (Tokyo, Japan)
2024

Prevalence of urologic sequelae and bladder and bowel dysfunctions in patients with congenital Zika syndrome: A multicenter evaluation of the Zika virus bladder and bowel sequelae assistance network.

Journal of pediatric urology
2024

HIV enteropathy and 'Slim disease': Historical and current perspectives.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
2024

Nutritional and health effects of bovine colostrum in neonates.

Nutrition reviews
2023

Clinical Utility of SARS-CoV-2 Serological Testing and Defining a Correlate of Protection.

Vaccines
2024

Risk of severe coronavirus disease 2019 despite vaccination in patients requiring treatment with immune-suppressive drugs: A nationwide cohort study of US Veterans.

Transplant infectious disease : an official journal of the Transplantation Society
2023

Effect of anti-SARS-CoV-2 BNT162b2 mRNA vaccination on thrombin generation in children with inflammatory bowel disease.

Frontiers in immunology
2023

Case Report: The impact of severe cryptosporidiosis on the gut microbiota of a pediatric patient with CD40L immunodeficiency.

Frontiers in cellular and infection microbiology
2023

Dengue virus infection induces selective expansion of Vγ4 and Vγ6TCR γδ T cells in the small intestine and a cytokine storm driving vascular leakage in mice.

PLoS neglected tropical diseases
2024

B cell-mediated CD4 T-cell costimulation via CD86 exacerbates pro-inflammatory cytokine production during autoimmune intestinal inflammation.

Mucosal immunology
2023

Microbiota Transplant and Gynecological Disorders: The Bridge between Present and Future Treatments.

Microorganisms
2023

Serum Anti-Spike Antibodies Are Not Affected by Immunosuppressants in SARS-CoV-2 Vaccinations Given to Brazilian Patients with Inflammatory Bowel Disease.

Healthcare (Basel, Switzerland)
2023

Fungal microbiota sustains lasting immune activation of neutrophils and their progenitors in severe COVID-19.

Nature immunology
2023

Biofilm's Impact on Inflammatory Bowel Diseases.

Cureus
2023

Review of microbiota gut brain axis and innate immunity in inflammatory and infective diseases.

Frontiers in cellular and infection microbiology
2024

Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.

Endocrine, metabolic &amp; immune disorders drug targets
2023

Modulating microbiome-immune axis in the deployment-related chronic diseases of Veterans: report of an expert meeting.

Gut microbes
2023

Enhanced IL-17 Producing and Maintained Cytolytic Effector Functions of Gut Mucosal CD161+CD8+ T Cells in SIV-Infected Rhesus Macaques.

Viruses
2023

Humoral Immunity in Immunosuppressed IBD Patients after the Third SARS-CoV-2 Vaccination: A Comparison with Healthy Control Subjects.

Vaccines
2023

Flaxseed Supplementation in Chicken Feed Accelerates Salmonella enterica subsp. enterica Serovar Enteritidis Clearance, Modulates Cecum Microbiota, and Influences Ovarian Gene Expression in Laying Hens.

Biomolecules
2023

Incidence of immune-mediated inflammatory diseases following COVID-19: a matched cohort study in UK primary care.

BMC medicine
2023

Early life adverse exposures in irritable bowel syndrome: new insights and opportunities.

Frontiers in pediatrics
2023

CircRNA254 functions as the miR-375 sponge to inhibit coelomocyte apoptosis via targeting BAG2 in V. splendidus-challenged Apostichopus japonicus.

Fish &amp; shellfish immunology
2023

Emerging Paradigms in Inflammatory Disease Management: Exploring Bioactive Compounds and the Gut Microbiota.

Brain sciences
2023

The role of caspase-8 in inflammatory signalling and pyroptotic cell death.

Seminars in immunology
2023

COVID-19-induced gastrointestinal autonomic dysfunction: A systematic review.

World journal of clinical cases
2023

Gastrointestinal involvement in post-acute Coronavirus disease (COVID)-19 syndrome.

Current opinion in infectious diseases
2023

Host-microbiota relationship in the pathophysiology of aseptic abscess syndrome: protocol for a multicentre case-control study (ABSCESSBIOT).

BMJ open
2023

Systemic Disease and the Liver Part 2: Pregnancy-Related Liver Injury, Sepsis/Critical Illness, Hypoxia, Psoriasis, Scleroderma/Sjogren's Syndrome, Sarcoidosis, Common Variable Immune Deficiency, Cystic Fibrosis, Inflammatory Bowel Disease, and Hematologic Disorders.

Surgical pathology clinics
2023

Elevated levels of enteric IgA in an unimmunised mouse model of Hyper IgM syndrome derived from gut-associated secondary lymph organs even in the absence of germinal centres.

Frontiers in cellular and infection microbiology
2023

Dietary Implications of the Bidirectional Relationship between the Gut Microflora and Inflammatory Diseases with Special Emphasis on Irritable Bowel Disease: Current and Future Perspective.

Nutrients
2023

Low vaccination and infection rate of Omicron in patients with inflammatory bowel disease: a comparative study of three unique cohorts.

Frontiers in public health

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infecções recorrentes.

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. From Gut to Metabolism: Exploring the Intersection of Inflammatory Bowel Disease and Systemic Metabolic Dysfunction.
    Journal of clinical gastroenterology· 2026· PMID 41805835mais citado
  2. Are we missing early pancreatic dysfunction? Expanding faecal elastase testing beyond pancreatic disease.
    Current opinion in gastroenterology· 2026· PMID 41782402mais citado
  3. Metabotherapy for intestinal disease: using metabolites to prevent and treat disorders of the gut.
    Nature reviews. Gastroenterology &amp; hepatology· 2026· PMID 41772119mais citado
  4. Fusobacterium nucleatum plays a pathogenic role in a murine model of irritable bowel syndrome by modulating intestinal purine metabolism and promoting mast cell activation.
    Gut microbes· 2026· PMID 41605881mais citado
  5. IgA Nephropathy in Adults: A Review.
    JAMA· 2026· PMID 41587026mais citado
  6. Modeling Clostridioides difficile toxin pathogenesis and antiserum protection in an immunocompetent intestine-on-chip platform.
    Sci Rep· 2026· PMID 41844812recente
  7. Inflammatory ILC2s migrate to distal tissues during infection using stage-specific S1P receptors.
    Sci Immunol· 2026· PMID 41824554recente
  8. Preparation and mechanism study of Alhagi honey polysaccharide-aluminum Pickering emulsion adjuvant for improving intestinal mucosal immune function.
    Front Immunol· 2026· PMID 41816321recente
  9. LC3-associated phagocytosis in macrophage responses to Paracoccidioides spp.
    Mem Inst Oswaldo Cruz· 2026· PMID 41810675recente
  10. Lactobacillus rhamnosus confers protection against enteropathogenic bacteria by enhancing mucosal immunity and epithelial barrier function.
    Front Cell Infect Microbiol· 2026· PMID 41809989recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:238569(Orphanet)
  2. MONDO:0016542(MONDO)
  3. GARD:13016(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q56013846(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

Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infecções recorrentes
Compêndio · Raras BR

Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infecções recorrentes

ORPHA:238569 · MONDO:0016542
Prevalência
<1 / 1 000 000
Casos
80 casos conhecidos
Herança
Autosomal recessive
CID-10
K52.8 · Outras gastroenterites e colites especificadas, não-infecciosas
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4749850
Repurposing
3 candidatos
aminosalicylatecyclooxygenase inhibitor
chloroxineopioid receptor antagonist
mesalazinecyclooxygenase inhibitor|lipoxygenase inhibitor|prostanoid receptor antagonist
Wikidata
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