Raras
Buscar doenças, sintomas, genes...
Enteropatia grave imunomediada
ORPHA:94075DOENÇA RARA

A enteropatia imunomediada grave descreve uma variedade de distúrbios intestinais que podem variar desde uma doença sistêmica grave de início precoce (IPEX) até uma doença gastrointestinal leve e isolada. Nas crianças manifesta-se com diarreia grave e desidratação na presença de anticorpos característicos (anti-enterócitos e anti-células caliciformes) e nos adultos com diarreia crónica, má absorção e perda de peso.

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Introdução

O que você precisa saber de cara

📋

A enteropatia imunomediada grave descreve uma variedade de distúrbios intestinais que podem variar desde uma doença sistêmica grave de início precoce (IPEX) até uma doença gastrointestinal leve e isolada. Nas crianças manifesta-se com diarreia grave e desidratação na presença de anticorpos característicos (anti-enterócitos e anti-células caliciformes) e nos adultos com diarreia crónica, má absorção e perda de peso.

Publicações científicas
198 artigos
Último publicado: 2026 Feb 28
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SUS: Sem cobertura SUSScore: 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
15 sintomas
🫃
Digestivo
14 sintomas
🩸
Sangue
14 sintomas
🫁
Pulmão
9 sintomas
🧬
Pele e cabelo
8 sintomas
🫘
Rins
7 sintomas

+ 40 sintomas em outras categorias

Características mais comuns

Candidíase mucocutânea crônica
Colite
Pneumonia
Nefropatia membranosa
Dermatite psoriasiforme
Hipoalbuminemia
129sintomas
Sem dados (129)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 129 características clínicas mais associadas, ordenadas por frequência.

Candidíase mucocutânea crônicaChronic mucocutaneous candidiasis
ColiteColitis
Pneumonia
Nefropatia membranosaMembranous nephropathy
Dermatite psoriasiformePsoriasiform dermatitis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa5
Total histórico198PubMed
Últimos 10 anos200publicações
Pico202555 papers
Linha do tempo
2021Hoje · 2026🧪 2022Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição.

STAT1Signal transducer and activator of transcription 1-alpha/betaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors (PubMed:12764129, PubMed:12855578, PubMed:15322115, PubMed:23940278, PubMed:34508746, PubMed:35568036, PubMed:9724754). Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2.

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (10)
Interferon alpha/beta signalingSARS-CoV-2 activates/modulates innate and adaptive immune responsesPKR-mediated signalingInterleukin-20 family signalingInterleukin-6 signaling
MECANISMO DE DOENÇA

Immunodeficiency 31B

A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
501.4 TPM
Fibroblastos
236.5 TPM
Pulmão
63.5 TPM
Baço
61.7 TPM
Aorta
51.6 TPM
OUTRAS DOENÇAS (3)
immunodeficiency 31Bautoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndromeMendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
HGNC:11362UniProt:P42224
FOXP3Forkhead box protein P3Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg) (PubMed:17377532, PubMed:21458306, PubMed:23947341, PubMed:24354325, PubMed:24722479, PubMed:24835996, PubMed:30513302, PubMed:32644293). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells (Pub

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (2)
RUNX1 regulates transcription of genes involved in WNT signalingRUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
MECANISMO DE DOENÇA

Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome

Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
2.8 TPM
Baço
2.7 TPM
Sangue
2.0 TPM
Skin Sun Exposed Lower leg
1.9 TPM
Skin Not Sun Exposed Suprapubic
1.9 TPM
OUTRAS DOENÇAS (1)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
HGNC:6106UniProt:Q9BZS1

Variantes genéticas (ClinVar)

391 variantes patogênicas registradas no ClinVar.

🧬 STAT1: NM_007315.4(STAT1):c.895_896insT (p.Gln299fs) ()
🧬 STAT1: NM_007315.4(STAT1):c.1239_1240insT (p.Asn414Ter) ()
🧬 STAT1: NM_007315.4(STAT1):c.1833del (p.Ile612fs) ()
🧬 STAT1: NM_007315.4(STAT1):c.605T>C (p.Met202Thr) ()
🧬 STAT1: NM_007315.4(STAT1):c.847T>A (p.Leu283Met) ()
Ver todas no ClinVar

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Targeting MLCK1 uncouples immune checkpoint inhibitor-induced colitis from antitumour immunity.

Gut2026 Jan 06

Immune checkpoint inhibitors (ICIs) have revolutionised cancer treatment and patients' survival. However, ICIs also cause severe immune-related adverse events, notably colitis, resulting in ICIs therapy discontinuation and tumour immunotherapy failure. This study investigates long myosin light chain kinase 1 (MLCK1), a known regulator of tight junction and gut permeability, to elucidate the mechanisms underlying ICI-mediated colitis and identify approaches to reduce this toxicity. This study employed an integrated approach, using clinical samples, in vivo models and in vitro organoid systems. Biopsies from patients with ICIs colitis were profiled using single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics. To recapitulate human ICIs colitis, we used a wild mouse microbiota (WildR) model, alongside various genetically modified and tumour-bearing models (including melanoma and MC38). Furthermore, mechanisms were investigated through organoid-immune cell co-cultures. Finally, surface plasmon resonance, microscale thermophoresis, full-spectrum flow cytometry, bulk RNA sequencing, immunostaining, ELISA and gut permeability assays were performed to comprehensively delineate the underlying molecular mechanism. Tight junction integrity was compromised in both human ICIs colitis and our WildR mouse model. We determined that this barrier dysfunction is driven by activation of the MLCK1-mediated leak pathway following ICI treatment. Using murine models, we identified tumour necrosis factor secreted by CD8+ and CD4+ T cells as an upstream regulator that induces colitis through this MLCK-dependent mechanism, as genetic deletion of MLCK preserved the tight junction structure and ameliorated the inflammation and ICIs colitis. Furthermore, a pharmacological screen identified the small molecule Epicatechin, which blocks MLCK1-FKBP8 interaction and inhibits the recruitment of MLCK1 to the perijunctional actomyosin ring and prevents the intestinal barrier loss. Finally, treatment with Epicatechin mitigated ICI-induced colitis without compromising the antitumour efficacy of the immunotherapy. These findings suggest that MLCK1-dependent tight junction regulation is essential for ICIs colitis, positioning barrier restoration as a potential therapeutic strategy.

#2

Colon chaos: when drugs turn against your gut.

Current opinion in gastroenterology2026 Jan 01

Immune-mediated diarrhea and colitis (IMDC) is a very common and severe toxicity to immune checkpoint inhibition that has generated a lot of scientific interest. The current guidelines do not capture the most recent literature on this disease entity, and few reviews if any have been published that describe the advances made in our understanding of IMDC. As more and more patients are being treated with immune checkpoint inhibitors (ICIs), it becomes essential to optimize treatment algorithms for ICI-related toxicities, especially IMDC. In our review, we discuss the findings of recent studies on IMDC epidemiology including incidence and risk factors, evaluation and treatment modalities, and surveillance and long-term outcomes. We note that while much has been learned regarding disease epidemiology and the utility of stool biomarkers over clinical symptoms, there remains a paucity of data where IMDC treatment options and long-term IMDC outcomes and surveillance is concerned. Our results highlight the most recent advances in our knowledge of IMDC and allow us to propose a management algorithm that improves on prior guidelines for IMDC by incorporating new study findings.

#3

Janus Kinase Inhibitor-Induced Acne in Inflammatory Bowel Disease: An International, Multicenter, Retrospective Cohort Study.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association2026 Feb

JAK inhibitor-associated acne is a common but poorly understood adverse event. This study aimed to investigate the epidemiology, clinical characteristics, and treatment outcomes of this condition in patients with inflammatory bowel disease (IBD). This international, multicenter, retrospective cohort study consecutively enrolled JAK-inhibitor-treated patients with IBD who subsequently developed acne. The primary objective was to evaluate the clinical characteristics of acne. Secondary objectives included determining acne prevalence, impact on quality of life, and antiacne treatment effectiveness. Among 2183 JAK inhibitor-treated patients with IBD, 272 developed acne. The crude prevalence rates of acne were 15.9% for upadacitinib, 4.3% for tofacitinib, and 1.9% for filgotinib, with dose-dependent relationships observed for upadacitinib and tofacitinib. Acne predominantly affected patients aged 30-50 years; most cases were mild-moderate in severity. A prior history of acne vulgaris was associated with significantly increased odds of developing severe JAK inhibitor-associated acne (odds ratio, 4.88; 95% confidence interval, 2.88-31.7; P = .0003) and acne-related skin complications (odds ratio, 3.92; 95% confidence interval, 1.56-10.11; P = .004). One-third of patients reported a negative psychosocial impact, and 40% received pharmacologic intervention. Eighteen percent of patients who developed acne required JAK inhibitor dose reduction or discontinuation, although most did not have severe disease. This is the first study characterizing this adverse event in JAK inhibitor-treated patients with IBD and presents the largest cohort of JAK inhibitor-induced acne cases across all immune-mediated diseases. Acne is a common adverse effect resulting in significant psychological burden. Early identification, proactive counseling, and timely interventions, such as dose reduction or referral to dermatology, are crucial in managing this side effect.

#4

Omental band induced bowel ischemia following combination immunotherapy in a patient with renal cell cancer.

Irish medical journal2026 Mar 19

A 62-year-old female, diagnosed with intermediate IMDC risk metastatic clear cell renal cell cancer, with multifocal metastases to left pleural membrane and primary renal mass in-situ, received combination of 1st line Nivolumab/Ipilimumab therapy. She was admitted to hospital within 2 weeks of administration of 1st cycle of immunotherapy with severe abdominal pain, vomiting, and nausea. On examination, she was noted to have severe abdominal tenderness with positive guarding. Her blood levels showed increased white cell count, C-reactive protein, and high lactate levels. A CT Abdomen and Pelvis and CT Mesenteric Angiogram was performed which showed evidence of mechanical small bowel obstruction. Secondary mesenteric oedema was also noted, and early ischemic changes of bowel were evident. Emergency laparotomy was performed. Omental banding of the small bowel loop was noted. This omental banding had resulted in bowel obstruction and ischemia. She underwent surgical resection of 15cm of gangrenous small bowel with an ileostomy formation. Histological examination revealed inflammatory cells and exudate present in small bowel biopsy sample. Small bowel obstruction because of an omental band is an extremely rare occurrence. It is thus postulated that the patients omental band developed as a consequence of immune mediated enteritis secondary to immunotherapy. Although small bowel obstruction secondary to immunotherapy is rare, with under five cases in the literature, it is a potentially life-threatening complication that treating physicians need to be aware of.

#5

The Role of APOL1 in Necrotizing Enterocolitis and Its Promise as a Diagnostic Biomarker.

Mediators of inflammation2026

Necrotizing enterocolitis (NEC) is a severe inflammatory disease of the intestine. Although previous studies have demonstrated that APOL1 plays an important role in regulating macrophage polarization and immune-mediated inflammatory diseases, its specific function in NEC remains unclear. We aim to further explore the role of APOL1 in NEC and its efficacy as a diagnostic biomarker. We performed tissue transcriptomic and plasma proteomic analyses based on clinical samples from preterm infants with NEC patients and conducted multilevel experimental validations. An in vitro macrophage polarization model was established to further investigate the regulatory role of APOL1 in macrophage differentiation. The diagnostic potential of APOL1 for NEC was evaluated using receiver operating characteristic (ROC) curve analysis. Multiomics analyses revealed a significant upregulation of APOL1 expression in NEC, which was further confirmed by qPCR, immunofluorescence, and ELISA. Pathway enrichment and immune infiltration analyses indicated that APOL1 is positively associated with M1 macrophage infiltration and the expression of multiple proinflammatory cytokines. Immunofluorescence staining further demonstrated that APOL1 is highly expressed in M1 macrophage-enriched regions. In vitro experiments showed elevated APOL1 expression in M1 macrophages, while its inhibition significantly reduced intracellular reactive oxygen species (ROS) accumulation and NF-κB p65 activation, thereby suppressing M1 polarization. Moreover, the combination of plasma APOL1 and lymphocyte count (LYM) demonstrated high diagnostic efficacy for NEC, with an AUC value of 0.96 (sensitivity 93.3% and specificity 93.3%). Our findings reveal a marked upregulation of APOL1 in preterm infants with NEC. Mechanistically, we propose that the APOL1-ROS-NF-κB axis constitutes a novel and promising therapeutic target for NEC intervention. Furthermore, the combined detection of plasma APOL1 and LYM demonstrates high efficacy.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Omental band induced bowel ischemia following combination immunotherapy in a patient with renal cell cancer.

Irish medical journal
2026

The Role of APOL1 in Necrotizing Enterocolitis and Its Promise as a Diagnostic Biomarker.

Mediators of inflammation
2026

Guselkumab: Pediatric First Approval.

Paediatric drugs
2026

Etrasimod: A Next-Generation S1P Receptor Modulator for Ulcerative Colitis - Mechanistic Insights and Clinical Progress.

Zhongguo ying yong sheng li xue za zhi = Zhongguo yingyong shenglixue zazhi = Chinese journal of applied physiology
2026

Ovarian T-cell lymphoma in a dog with chronic protein-losing enteropathy.

Acta veterinaria Scandinavica
2026

Gut Microbiota as Neuroimmune Modulators in Myasthenia Gravis: Mechanistic Insights from the Gut-Brain Axis to Therapeutic Innovations.

The American journal of Chinese medicine
2026

Inhibiting METTL3 in macrophages alleviates colitis by enhancing M2 polarization via upregulating IRAKM.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2026

Multi-omics analyses reveal the pathogenic role of terminal ileum-derived IgA+β7+ cells in IgA nephropathy.

Kidney international
2026

Impact of a GABA-Producing Lactococcus lactis on Microbiota and Mycobiota During CNS Inflammatory Demyelination.

FASEB bioAdvances
2026

Targeting MLCK1 uncouples immune checkpoint inhibitor-induced colitis from antitumour immunity.

Gut
2025

Therapeutic Modulation of IL-6/STAT-3 and Nitric Oxide by Fenofibrate in Patients With Ulcerative Colitis: A Randomized Controlled Pilot Study.

Pharmacotherapy
2026

[Upper-gastrointestinal tract toxicities associated with Immune Checkpoint Inhibitors (ICI)].

Bulletin du cancer
2025

Large-scale multi-trait genome-wide analysis for inflammatory bowel disease reveals new insights into its molecular mechanisms and emphasizes the roles of systemic immune regulation.

Briefings in bioinformatics
2025

Hepatic Steatosis and Diet in Adult Celiac Disease: A Cross-Sectional Study.

Nutrients
2025

Systemic Consequences of Inflammatory Bowel Disease Beyond Immune-Mediated Manifestations.

Journal of clinical medicine
2025

Association of IL12RB2, RORC, and class II HLA polymorphisms with severe erythema multiforme of regorafenib in Japanese patients with colorectal cancer.

Cancer chemotherapy and pharmacology
2026

Colon chaos: when drugs turn against your gut.

Current opinion in gastroenterology
2025

A myeloid Tet2-IL-1β axis modulates intestinal inflammation by restricting catecholaminergic stimulation of enterochromaffin cell differentiation.

Immunity
2025

Apremilast as a novel therapeutic option for psoriasis coexisting primary sclerosing cholangitis and ulcerative colitis: A case report.

Medicine
2025

Risk of Colitis in Patients With Inflammatory Bowel Disease or Microscopic Colitis Exposed to Checkpoint Inhibitors: A National Danish Cohort Study.

JCO oncology practice
2026

Impact of GLP-1 analogues on immune-mediated inflammatory diseases: A systematic review.

Autoimmunity reviews
2025

Asthma remission in the context of other immune-mediated diseases.

The Journal of allergy and clinical immunology
2025

Autoimmune enteropathy in an infant, a rare entity possibly triggered in utero.

Oxford medical case reports
2025

Defining Fecal Calprotectin Cutoffs That Predict Endoscopic and Histologic Remission in Patients With Ulcerative Colitis.

Inflammatory bowel diseases
2025

Appendiceal B lymphocytes contribute to the pathogenesis of experimental colitis through fueling colonic CD4+ T polarization.

Translational research : the journal of laboratory and clinical medicine
2026

Fatigue in patients with inflammatory bowel disease: A descriptive cross-sectional study.

Gastroenterologia y hepatologia
2025

Combination therapy with biologics and/or small molecules in inflammatory bowel disease: a comprehensive review.

Journal of Crohn's & colitis
2025

Palmitic Acid Esterification Boosts Epigallocatechin Gallate's Immunomodulatory Effects in Intestinal Inflammation.

Biomolecules
2025

Extra-intestinal manifestations in inflammatory bowel disease: a comparative review of pediatric and adult-onset disease.

Expert review of gastroenterology & hepatology
2025

Protective and therapeutic potentials of Trichinella spiralis larval antigen in murine induced colitis.

Scientific reports
2025

Gastrointestinal Infection Before Immune Checkpoint Inhibition Hinders Treatment Efficacy and Increases the Risk of Colitis.

Cancer medicine
2025

Bank1 deficiency reshapes the gut microbiota of lupus mice towards an anti-inflammatory composition.

Frontiers in immunology
2025

Practical considerations for the use of IL-23p19 inhibitors in inflammatory bowel disease: how to choose between them and why it matters?

Journal of Crohn's & colitis
2025

Evaluation of the systemic immune-inflammation index in relation to histological stages of celiac disease.

European journal of medical research
2025

IMMUNE DYSREGULATION AND EPITHELIAL STRESS IN CELIAC DISEASE PROGRESSION: A FOCUS ON REFRACTORY CELIAC DISEASE SUBTYPES.

Georgian medical news
2025

Comparison of the FDA and EMA guidance on drug development in ulcerative colitis: an expert panel review.

Journal of Crohn's & colitis
2025

Artificial intelligence in inflammatory bowel disease endoscopy - a review of current evidence and a critical perspective on future challenges.

Therapeutic advances in gastroenterology
2025

The Impact of Fecal Diversion on Immune Checkpoint Inhibitor Adverse Gastrointestinal Toxicities.

Journal of clinical medicine
2025

Relieving the discrimination dilemma of adult autoimmune enteropathy and common variable immunodeficiency disease: two rare causes of chronic diarrhea and small intestinal villous atrophy.

Clinical rheumatology
2025

Diagnostic Challenges in Enteropathies: A Histopathological Review.

Diagnostics (Basel, Switzerland)
2026

Janus Kinase Inhibitor-Induced Acne in Inflammatory Bowel Disease: An International, Multicenter, Retrospective Cohort Study.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2025

Sphingosine-1-Phosphate Receptor Modulators for the Treatment of Ulcerative Colitis: A Narrative Review Focusing on Safety.

United European gastroenterology journal
2025

Microbiome gut community structure and functionality are associated with symptom severity in non-responsive celiac disease patients undergoing a gluten-free diet.

mSystems
2025

Latent class analysis identifies novel coeliac disease subgroups with distinctive clinical features: a multicentric study.

European journal of internal medicine
2025

Oral Peptide Therapeutics as an Emerging Treatment Modality in Immune-Mediated Inflammatory Diseases: A Narrative Review.

Advances in therapy
2025

Diagnostic Yield of Video Capsule Endoscopy (VCE) in Celiac Disease (CD): A Systematic Review and Meta-analysis.

Journal of clinical gastroenterology
2025

Hypoalbuminemia and Generalized Edema as the Presenting Symptoms of Celiac Disease in a Two-Year-Old Girl: A Case Report.

Case reports in gastroenterology
2025

Serum C-Reactive Protein as a Potential Indicator for Screening Fecal Calprotectin in Patients With Moderate-to-Severe Hidradenitis Suppurativa: A Cross-Sectional Cohort Study.

International journal of dermatology
2025

Autoantibody Profiling in Ulcerative Colitis: Identification of Early Immune Signatures and Disease-Associated Antigens for Improved Diagnosis and Monitoring.

International journal of molecular sciences
2025

Mild Duodenal Mucosal Injury and Increased Type I Interferon Signaling Are Preludes to Celiac Disease.

Laboratory investigation; a journal of technical methods and pathology
2025

Assessment of Intestinal Free Fatty Acid Binding Protein 4 in Alopecia Areata Patients.

Skin appendage disorders
2025

A Rare Association of Celiac Disease and Aplastic Anemia.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2025

The role of microbial succinate in the pathophysiology of inflammatory bowel disease: mechanisms and therapeutic potential.

Current opinion in microbiology
2025

Tas2r105 ameliorates gut inflammation, possibly through influencing the gut microbiota and metabolites.

mSystems
2025

Long-Term Safety of Mirikizumab in Patients With Moderately to Severely Active Ulcerative Colitis: An Integrated 2-Year Safety Analysis.

The American journal of gastroenterology
2025

Differential Disease Behavior of Immune-Mediated Colitis Among Different Types of Immune Checkpoint Inhibition.

Targeted oncology
2025

The Impact of Concomitant Hypothyroid Disease on the Course of Inflammatory Bowel Disease.

Digestive diseases and sciences
2025

Evaluation of fecal neutrophil gelatinase-associated lipocalin levels in childhood inflammatory bowel disease.

Journal of pediatric gastroenterology and nutrition
2025

Effects of a Gluten-Free Diet on Brain Bioelectrical Activity and Neurological Symptoms in Children with Celiac Disease: A Study Using EEG Assessment.

Journal of clinical medicine
2025

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

Cells
2025

Macrophage-targeting nano-formulated bicalutamide alleviates colitis by inducing MAP3K1-mediated degradation of NLRP3.

Journal of controlled release : official journal of the Controlled Release Society
2025

Protocol for a first-in-human feasibility study of T regulatory cells (TR004) for inflammatory bowel disease using (ex vivo) Treg expansion (TRIBUTE).

BMJ open
2025

Advances and challenges in diagnosing and managing adult autoimmune enteropathy.

World journal of gastroenterology
2025

Ubiquitination of TFEB increased intestinal permeability to aggravate metabolic dysfunction-associated steatohepatitis.

Hepatology (Baltimore, Md.)
2025

The TL1A inhibitors in IBD: what's in the pot?

Expert review of gastroenterology & hepatology
2025

A Similar Mutation in the AAUU-Rich Elements of the Mouse TNF Gene Results in a Distinct Ileocolitic Phenotype: A New Strain of TNF-Overexpressing Mice.

Inflammatory bowel diseases
2025

Cell therapy with human IL-10-producing ILC2s limits xenogeneic graft-versus-host disease by inhibiting pathogenic T cell responses.

Cell reports
2024

Presence of Pseudomonas aeruginosa in feces exacerbate leaky gut in mice with low dose dextran sulfate solution, impacts of specific bacteria.

PloS one
2024

Cow's milk protein allergy in infants and children.

Paediatrics & child health
2024

Development of interleukin-27 recombinant Lactococcus lactis and its efficacy in treating psoriasis and colitis in mice.

International journal of biological macromolecules
2024

Long-term benefit of ustekinumab in ulcerative colitis in clinical practice: ULISES study.

Alimentary pharmacology & therapeutics
2025

Update on the Epidemiology and Management of Microscopic Colitis.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2024

Adult-Onset Autoimmune Enteropathy Mimicking Disaccharidase Deficiency.

Gastroenterology research
2024

Fulminant immune-related colitis after dual checkpoint inhibitor therapy: case report.

Immunotherapy
2025

Modern Advanced Therapies for Inflammatory Bowel Diseases: Practical Considerations and Positioning.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2024

Safety of biologic immunosuppressants in pregnant women with immune-mediated inflammatory diseases.

Journal of autoimmunity
2024

Risk Factors for the Development of and Outcomes After Diagnosis of Autoimmune Alopecia Areata in Patients with Inflammatory Bowel Diseases.

Digestive diseases and sciences
2024

The emerging role of oxidative stress in inflammatory bowel disease.

Frontiers in endocrinology
2024

Serum calgranulin C as a non-invasive predictor of activity among inflammatory bowel disease.

The Egyptian journal of immunology
2024

Impact of Cigarette Smoking on Clinical Presentation and Treatment Response in Coeliac Disease.

Journal of gastrointestinal and liver diseases : JGLD
2024

COVID-19 IN INFLAMMATORY BOWEL DISEASE: SHOULD WE BE MORE CAREFUL WITH THE USE OF SALICYLATES?

Arquivos de gastroenterologia
2024

Dopamine β-hydroxylase shapes intestinal inflammation through modulating T cell activation.

Cellular immunology
2024

Molecular mechanisms underlying methotrexate-induced intestinal injury and protective strategies.

Naunyn-Schmiedeberg's archives of pharmacology
2023

Oral small molecule agents in management of ulcerative colitis: fact or fancy?

Turkish journal of medical sciences
2025

Trichinella spiralis alleviates LPS-induced acute lung injury by modulating the protective Th2 immune response.

Veterinary parasitology
2024

Perceived quality of life by patients with immune-mediated inflammatory diseases treated with biological therapies. SACVINFA study.

Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia Hospitalaria
2024

Combination treatment of inflammatory bowel disease: Present status and future perspectives.

World journal of gastroenterology
2024

Extrachromosomal Circular DNA: An Emerging Potential Biomarker for Inflammatory Bowel Diseases?

Genes
2024

Blockade of neutrophil extracellular trap components ameliorates cholestatic liver disease in Mdr2 (Abcb4) knockout mice.

Journal of autoimmunity
2024

Serum Amyloid A as a non-invasive predictive biomarker of mucosal healing in ulcerative colitis patients.

The Egyptian journal of immunology
2024

Disruption of post-thymic tolerance in skin-reactive TCR transgenic mice through the interaction of lymphopenia and intestinal microbiota.

International immunology
2024

In major dysmood disorder, physiosomatic, chronic fatigue and fibromyalgia symptoms are driven by immune activation and increased immune-associated neurotoxicity.

Scientific reports
2024

Colitis due to cancer treatment with immune check-point inhibitors - review of literature and presentation of clinical cases.

Radiology and oncology
2024

Upadacitinib in Crohn's disease.

Expert opinion on pharmacotherapy
2024

Immune-mediated diseases are associated with a higher risk of ALS incidence: a prospective cohort study from the UK Biobank.

Frontiers in immunology
2024

Panaxynol improves crypt and mucosal architecture, suppresses colitis-enriched microbes, and alters the immune response to mitigate colitis.

American journal of physiology. Gastrointestinal and liver physiology
2024

Celiac Disease-Related Conditions: Who to Test?

Gastroenterology
2024

Autophagy differentially regulates tissue tolerance of distinct target organs in graft-versus-host disease models.

The Journal of clinical investigation
2024

Etrasimod: First Approval.

Drugs
2024

mRNA-1273 vaccinated inflammatory bowel disease patients receiving TNF inhibitors develop broad and robust SARS-CoV-2-specific CD8+ T cell responses.

Journal of autoimmunity
2024

The Conjunctival Microbiome and Dry Eye: What We Know and Controversies.

Eye & contact lens
2024

Primary clostridium difficile infection in patients with ulcerative colitis: Case report and literature review.

Medicine
2024

Novel endoscopic scoring system for immune mediated colitis: a multicenter retrospective study of 674 patients.

Gastrointestinal endoscopy
2024

Short-chain fatty acids ameliorate experimental anti-glomerular basement membrane disease.

Clinical immunology (Orlando, Fla.)
2024

Efficacy and safety of biologics in primary sclerosing cholangitis with inflammatory bowel disease: A systematic review and meta-analysis.

Hepatology communications
2023

Cutaneous Disorders Masking Celiac Disease: Case Report and Mini Review with Proposal for a Practical Clinical Approach.

Nutrients
2024

Vitamin D Levels as a Potential Modifier of Eosinophilic Esophagitis Severity in Adults.

Digestive diseases and sciences
2024

Venous thromboembolism risk is lower in patients with atopic dermatitis than other immune-mediated inflammatory diseases: A retrospective, observational, comparative cohort study using US claims data.

Journal of the American Academy of Dermatology
2023

Role of ustekinumab in treatment of ulcerative colitis: a narrative review.

Immunotherapy
2024

Treating Autoimmune Diseases With LANCL2 Therapeutics: A Novel Immunoregulatory Mechanism for Patients With Ulcerative Colitis and Crohn's Disease.

Inflammatory bowel diseases
2023

Nephropathy Is Aggravated by Fatty Acids in Diabetic Kidney Disease through Tubular Epithelial Cell Necroptosis and Is Alleviated by an RIPK-1 Inhibitor.

Kidney diseases (Basel, Switzerland)
2023

Upadacitinib as a Rescue Therapy in Acute Severe Ulcerative Colitis: A Case Report and Review of the Literature.

The American journal of case reports
2023

Unraveling the Immunopathological Landscape of Celiac Disease: A Comprehensive Review.

International journal of molecular sciences
2023

Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in CTLA4 gene: A case report.

World journal of clinical cases
2023

Immune-mediated colitis associated with ocrelizumab: A new safety risk.

Multiple sclerosis (Houndmills, Basingstoke, England)
2023

Suprabasal cells retain progenitor cell identity programs in eosinophilic esophagitis-driven basal cell hyperplasia.

JCI insight
2023

A longitudinal study of distress symptoms and work impairment in immune-mediated inflammatory diseases.

Journal of psychosomatic research
2024

Cross-sectional imaging: current status and future potential in adult celiac disease.

European radiology
2023

The importance of predicting patient responses to monoclonal antibodies for Crohn's disease.

Expert opinion on biological therapy
2023

An update on the safety of long-term vedolizumab use in inflammatory bowel disease.

Expert opinion on drug safety
2023

Celiac Disease Masquerading as Extreme Thrombocytosis and Severe Anemia in a 52-Year-Old Female Patient: A Rare Case Presentation and Literature Review.

Cureus
2024

Osteopontin characterizes bile duct-associated macrophages and correlates with liver fibrosis severity in primary sclerosing cholangitis.

Hepatology (Baltimore, Md.)
2023

Amelioration of DSS-induced colitis in mice by TNF-α-stimulated mesenchymal stem cells derived from feline adipose tissue via COX-2/PGE2 activation.

Journal of veterinary science
2023

Inflammatory Bowel Disease-Associated Colorectal Cancer: Translational and Transformational Risks Posed by Exogenous Free Hemoglobin Alpha Chain, A By-Product of Extravasated Erythrocyte Macrophage Erythrophagocytosis.

Medicina (Kaunas, Lithuania)
2023

Topotecan alleviates acetic acid-induced ulcerative colitis in rats via attenuation of the RORγT transcription factor.

Life sciences
2023

Prevention of colitis-induced liver oxidative stress and inflammation in a transgenic mouse model with increased omega-3 polyunsaturated fatty acids.

Redox biology
2023

Glucocorticoid effects in the regenerating fin reflect tissue homeostasis disturbances in zebrafish by affecting Wnt signaling.

Frontiers in endocrinology
2023

Gastrointestinal involvement of passenger lymphocyte syndrome followed by minor ABO-incompatible renal transplantation: A case report.

Pediatric transplantation
2023

A Current State of Proteomics in Adult and Pediatric Inflammatory Bowel Diseases: A Systematic Search and Review.

International journal of molecular sciences
2024

Celiac Disease in Children: A 2023 Update.

Indian journal of pediatrics
2023

Targeting IL-23 for IBD: Rationale and Progress to Date.

Drugs
2023

Functional assays to evaluate antibody-mediated responses against Shigella: a review.

Frontiers in cellular and infection microbiology
2023

Celiac crisis as the life-threatening onset of celiac disease in children: a case report.

Frontiers in pediatrics
2023

Extensive ischaemic colitis-like colonic lesions in eosinophilic granulomatosis with polyangiitis.

Modern rheumatology case reports
2023

Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.

Journal of clinical immunology
2023

The evaluation of liver abnormalities in inflammatory bowel disease patients.

Current opinion in gastroenterology
2023

Position statement on the management of the immune checkpoint inhibitor-induced colitis via multidisciplinary modified Delphi consensus.

European journal of cancer (Oxford, England : 1990)
2023

Celiac Disease Is a Risk Factor for Mature T and NK Cell Lymphoma: A Mendelian Randomization Study.

International journal of molecular sciences
2023

Peripheral blood T-lymphocyte subsets are potential biomarkers of disease severity and clinical outcomes in patients with ulcerative colitis: a retrospective study.

BMC gastroenterology
2023

Advances in pharmacotherapy for ulcerative colitis: a focus on JAK1 inhibitors.

Expert opinion on pharmacotherapy
2023

Review article: Risk of cardiovascular events in patients with inflammatory bowel disease receiving small molecule drugs.

Alimentary pharmacology & therapeutics
2023

Intestinal barrier dysfunction as a key driver of severe COVID-19.

World journal of virology
2023

SECOND BRAZILIAN CONSENSUS ON THE MANAGEMENT OF ULCERATIVE COLITIS IN ADULTS: A CONSENSUS OF THE BRAZILIAN ORGANIZATION FOR CROHN'S DISEASE AND COLITIS (GEDIIB).

Arquivos de gastroenterologia
2023

SECOND BRAZILIAN CONSENSUS ON THE MANAGEMENT OF CROHN'S DISEASE IN ADULTS: A CONSENSUS OF THE BRAZILIAN ORGANIZATION FOR CROHN'S DISEASE AND COLITIS (GEDIIB).

Arquivos de gastroenterologia
2023

Atopic Dermatitis and Ulcerative Colitis Successfully Treated with Upadacitinib.

Medicina (Kaunas, Lithuania)
2023

Perspectives on Non-IgE-Mediated Gastrointestinal Food Allergy in Pediatrics: A Review of Current Evidence and Guidelines.

Journal of asthma and allergy
2023

Etrasimod as induction and maintenance therapy for ulcerative colitis (ELEVATE): two randomised, double-blind, placebo-controlled, phase 3 studies.

Lancet (London, England)
2022

Analysis of Alterations of the Gut Microbiota in Moderate to Severe Psoriasis Patients Using 16S rRNA Gene Sequencing.

Indian journal of dermatology
2023

MIF Variant rs755622 Is Associated with Severe Crohn's Disease and Better Response to Anti-TNF Adalimumab Therapy.

Genes
2023

Etrasimod for the treatment of ulcerative colitis.

Immunotherapy
2023

Clinical Evaluation of Risankizumab in the Treatment of Adults with Moderately to Severely Active Crohn's Disease: Patient Selection and Reported Outcomes.

Drug design, development and therapy
2023

Molecular Imaging in Inflammatory Bowel Disease.

Seminars in nuclear medicine
2023

Pediatric Gastroenterology and Hepatology in Italy before and after the COVID-19: Lessons learned and management changes by SIGENP.

Italian journal of pediatrics
2024

Cyclosporine treatment for severe steroid refractory immune-mediated colitis in a patient with ulcerative colitis.

Gastroenterologia y hepatologia
2023

Disease activity in patients with immune-mediated inflammatory diseases after SARS-CoV-2 vaccinations.

Journal of autoimmunity
2023

The composition and function profile of the gut microbiota of patients with primary Sjögren's syndrome.

Clinical rheumatology
2023

Biologic and Small-Molecule Therapies for Moderate-to-Severe Psoriasis: Focus on Psoriasis Comorbidities.

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy
2023

Implementing an immunotherapy toxicity (IOTOX) GI service improves outcomes in patients with immune-mediated diarrhea and colitis.

Journal of cancer research and clinical oncology
2022

A Review of Ophthalmic Complications in Inflammatory Bowel Diseases.

Journal of clinical medicine
2022

Treat-to-target and sequencing therapies in Crohn's disease.

United European gastroenterology journal
2022

Deucravacitinib: First Approval.

Drugs
2022

Gut microbes in cerebrovascular diseases: Gut flora imbalance, potential impact mechanisms and promising treatment strategies.

Frontiers in immunology
2022

Cross talk between the gut microbiome and host immune response in ulcerative colitis: nonpharmacological strategies to improve homeostasis.

American journal of physiology. Gastrointestinal and liver physiology
2022

Why targeted therapeutics have provided benefit in psoriasis: looking at IL-17 biology.

Expert review of clinical pharmacology
2022

[Update on the Treatment of Inflammatory Bowel Disease].

Acta gastroenterologica Latinoamericana
2022

Population Pharmacokinetics and Exposure-Response Analyses of Ustekinumab in Patients With Moderately to Severely Active Crohn's Disease.

Clinical therapeutics
2022

Clinical Features and Outcomes of Coronavirus Disease 2019 in Patients with Inflammatory Bowel Disease and Spondyloarthropathies.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
2022

Safety and efficacy of infliximab and corticosteroid therapy in checkpoint inhibitor-induced colitis.

Alimentary pharmacology & therapeutics
2022

Eosinophilic oesophagitis in Denmark: Population-based incidence and prevalence in a nationwide study from 2008 to 2018.

United European gastroenterology journal
2022

Concomitant Guillain-Barré Syndrome in a young Sri Lankan male with severe ulcerative colitis.

BMC gastroenterology
2022

Characteristics of inflammatory bowel diseases in patients with concurrent immune-mediated inflammatory diseases.

World journal of gastroenterology
2022

Subtyping of Eosinophilic Esophagitis Based on Disease Presentation in a pediatric Cohort.

Journal of pediatric gastroenterology and nutrition
2022

[Celiac crisis and acute tetany in pediatrics. Case report].

Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru
2022

Celiac Disease and Targeting the Molecular Mechanisms of Autoimmunity in COVID Pandemic.

International journal of molecular sciences
2022

Risks of SARS-CoV-2 Infection and Immune Response to COVID-19 Vaccines in Patients With Inflammatory Bowel Disease: Current Evidence.

Frontiers in immunology
2022

Systemic calcinosis in a Quarter Horse gelding homozygous for a myosin heavy chain 1 mutation.

Journal of veterinary internal medicine
2022

Depression and anxiety in inflammatory bowel disease: epidemiology, mechanisms and treatment.

Nature reviews. Gastroenterology & hepatology
2022

Novel Potassium-Competitive Acid Blocker, Tegoprazan, Protects Against Colitis by Improving Gut Barrier Function.

Frontiers in immunology
2023

Tacrolimus-binding protein FKBP8 directs myosin light chain kinase-dependent barrier regulation and is a potential therapeutic target in Crohn's disease.

Gut
2022

The association between intestinal microbiome and autoimmune uveitis.

Archivos de la Sociedad Espanola de Oftalmologia
2023

GelNB molecular coating as a biophysical barrier to isolate intestinal irritating metabolites and regulate intestinal microbial homeostasis in the treatment of inflammatory bowel disease.

Bioactive materials
2022

Exacerbation of non-steroidal anti-inflammatory drug-induced enteropathy in C-C chemokine receptor type 7-deficient mice.

Journal of gastroenterology and hepatology
2022

Review article: paradoxical psoriasis as a consequence of tumour necrosis factor antagonists in patients with inflammatory bowel disease.

Alimentary pharmacology & therapeutics
2022

Inflammatory Bowel Diseases Affect the Phenotype and Disease Course of Coexisting Immune-Mediated Inflammatory Diseases: A Systematic Review With Meta-Analysis.

Inflammatory bowel diseases
2022

A specific microbiota signature is associated to various degrees of ulcerative colitis as assessed by a machine learning approach.

Gut microbes
2022

SARS-CoV-2 (COVID-19) pneumonia patient treated with two doses of infliximab within 2 weeks for acute severe ulcerative colitis: A case report.

Medicine
2022

Gut Microbiome and Organ Fibrosis.

Nutrients
2022

[Management of persistent colitis after successful immunotherapy for non-small cell carcinoma of the lung].

Zeitschrift fur Gastroenterologie
2022

Extra-Intestinal Manifestations of Celiac Disease: What Should We Know in 2022?

Journal of clinical medicine
2022

Impact of Inflammatory Bowel Disease Therapies on Durability of Humoral Response to SARS-CoV-2 Vaccination.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2021

Concomitant Congenital Diaphagmatic Hernia (CDH) and bilateral bacterial glomerulonephritis in a pet chinchilla (Chinchilla lanigera).

BMC veterinary research
2022

Pediatric autoimmune disorders with gastrointestinal expressions: from bench to bedside.

Pathologica
2021

Update on Food protein-induced enterocolitis syndrome (FPIES).

Acta bio-medica : Atenei Parmensis
2021

Remote regulation of type 2 immunity by intestinal parasites.

Seminars in immunology
2021

A Manifestation of Ulcerative Colitis During Treatment for Severe Plaque Psoriasis with Ixekizumab - A Report of Two Cases and Review of the Literature.

Acta dermatovenerologica Croatica : ADC
2021

Therapies for inflammatory bowel disease do not pose additional risks for adverse outcomes of SARS-CoV-2 infection: an IG-IBD study.

Alimentary pharmacology & therapeutics
2021

Novel Presentation of Terminal Ileitis Associated with Secukinumab Therapy.

Case reports in gastrointestinal medicine
2022

Propionate attenuates atherosclerosis by immune-dependent regulation of intestinal cholesterol metabolism.

European heart journal
2021

Impact of COVID-19 on inflammatory bowel disease practice and perspectives for the future.

World journal of gastroenterology
2021

KIR3DS1 directs NK cell-mediated protection against human adenovirus infections.

Science immunology

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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. Targeting MLCK1 uncouples immune checkpoint inhibitor-induced colitis from antitumour immunity.
    Gut· 2026· PMID 41494803mais citado
  2. Colon chaos: when drugs turn against your gut.
    Current opinion in gastroenterology· 2026· PMID 41198062mais citado
  3. Janus Kinase Inhibitor-Induced Acne in Inflammatory Bowel Disease: An International, Multicenter, Retrospective Cohort Study.
    Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association· 2026· PMID 40505791mais citado
  4. Omental band induced bowel ischemia following combination immunotherapy in a patient with renal cell cancer.
    Irish medical journal· 2026· PMID 41870000mais citado
  5. The Role of APOL1 in Necrotizing Enterocolitis and Its Promise as a Diagnostic Biomarker.
    Mediators of inflammation· 2026· PMID 41743217mais citado
  6. Vaccine-Induced Immune Thrombotic Thrombocytopenia (VITT): An Immunopathogenic Model of Dysregulated Vaccine-Triggered Immunity.
    Vaccines (Basel)· 2026· PMID 41893762recente
  7. Contribution of molecular profiling in primary cervical intramedullary melanoma: case report and literature review.
    J Neuroradiol· 2026· PMID 41863996recente
  8. Optimal Corticosteroid Therapy Based on Liver Biopsy for Severe Immune-Mediated Hepatitis During Pembrolizumab Treatment: A Case Report.
    Cureus· 2026· PMID 41808699recente
  9. Immune-mediated side effects of cancer immunotherapies.
    Blood· 2026· PMID 41802111recente
  10. Subacute liver failure caused by immunotherapy in a patient with gastric cancer was improved after multimodal treatment with artificial liver combined with liver-protective drugs: a case report.
    Front Immunol· 2026· PMID 41766865recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:94075(Orphanet)
  2. MONDO:0019787(MONDO)
  3. GARD:8689(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q17130915(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

Enteropatia grave imunomediada
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Enteropatia grave imunomediada

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