Introdução
O que você precisa saber de cara
Síndrome rara autossômica recessiva associada a mutações no gene RIPK1, caracterizada por imunodesregulação, doença inflamatória intestinal, artrite, infecções recorrentes e linfopenia. Apresenta-se com manifestações inflamatórias e infecciosas graves.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
Linha do tempo da pesquisa
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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Serine-threonine kinase which is a key regulator of TNF-mediated apoptosis, necroptosis and inflammatory pathways (PubMed:17703191, PubMed:24144979, PubMed:31827280, PubMed:31827281, PubMed:32657447, PubMed:35831301). Exhibits kinase activity-dependent functions that regulate cell death and kinase-independent scaffold functions regulating inflammatory signaling and cell survival (PubMed:11101870, PubMed:19524512, PubMed:19524513, PubMed:29440439, PubMed:30988283). Has kinase-independent scaffold
CytoplasmCell membrane
Immunodeficiency 57 with autoinflammation
An autosomal recessive primary immunodeficiency characterized by lymphopenia and recurrent viral, bacterial, and fungal infections. Patients exhibit early-onset inflammatory bowel disease involving the upper and lower gastrointestinal tract, and develop progressive polyarthritis.
Variantes genéticas (ClinVar)
93 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
24 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infecções recorrentes-linfopenia
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Fecal microbiota transplantation in murine models of colitis and short bowel syndrome: lessons learned, limitations, and translational perspectives.
Fecal microbiota transplantation (FMT) has become a powerful experimental tool for dissecting microbiota-driven mechanisms in murine models of gastrointestinal and systemic disease. This review provides a comprehensive methodological and translational overview of FMT in mice, focusing on lessons learned from inflammatory bowel disease (IBD) research and emerging perspectives in short bowel syndrome (SBS). We first outline the fundamental role of the gut microbiota in immune regulation, metabolic homeostasis, and maintenance of epithelial barrier integrity, establishing the rationale for modulating microbial communities through FMT. A detailed methodological analysis follows, highlighting how donor selection, recipient conditioning, sample handling, administration route, and environmental variables critically influence microbial engraftment and experimental reproducibility. The review then synthesizes current evidence from key murine IBD models, demonstrating that FMT can restore epithelial integrity, rebalance adaptive immunity, modulate cytokine networks, and enrich beneficial short-chain fatty-acid-producing taxa. Concepts such as functional engraftment, viability of transferred communities, and host-microbe metabolic interactions are discussed as central determinants of FMT efficacy. Finally, we address the emerging but challenging application of FMT in SBS. Profound alterations in intestinal anatomy, transit, oxygen tension, and substrate availability limit the integration of donor microbiota in SBS models, necessitating adapted strategies such as anaerobic handling, pre-conditioned consortia, synbiotics, and optimized delivery systems. Piglet models and computational approaches for donor-recipient matching are highlighted as promising translational tools. Overall, this review underscores the need for methodological standardization and physiologically tailored approaches to advance the reliability, mechanistic insight, and translational potential of FMT in both IBD and SBS.
From Gut to Metabolism: Exploring the Intersection of Inflammatory Bowel Disease and Systemic Metabolic Dysfunction.
Inflammatory bowel diseases (IBD), comprising Crohn's disease and ulcerative colitis, are chronic, relapsing inflammatory disorders increasingly recognized as systemic conditions with significant extraintestinal manifestations. Over the past 3 decades, the prevalence of IBD has risen in parallel with obesity and related metabolic disorders, including type 2 diabetes mellitus (T2DM), cardiovascular disease (CVD), chronic kidney disease (CKD), metabolic dysfunction-associated steatotic liver disease (MASLD), and dyslipidemia. This parallel rise raises the possibility of shared or interacting biological pathways linking metabolic dysfunction and intestinal inflammation. Epidemiologic studies suggest increased risks of metabolic comorbidities in IBD independent of traditional factors, while mechanistic insights implicate systemic meta-inflammation, mesenteric adipose tissue remodeling (creeping fat), gut barrier dysfunction, and altered lipid and glucose metabolism. These pathways perpetuate a cycle of immune dysregulation and metabolic injury, amplifying disease severity and complications. Obesity and insulin resistance further impact IBD outcomes by altering pharmacokinetics and therapeutic response to biologics, with a higher body mass index associated with increased treatment failure, earlier loss of response, and heightened infection risk. Emerging data also suggest potential dual benefits of metabolic-directed therapies, such as glucagon-like peptide-1 receptor agonists, which may improve weight, glycemic control, and inflammatory indices. However, most evidence remains observational, with limited longitudinal or mechanistic studies. This narrative review synthesizes current knowledge at the interface of IBD and metabolic dysfunction, highlighting clinical implications, translational insights, and research gaps. Integrating metabolic screening and multidisciplinary management into IBD care may improve outcomes, while future mechanistic and interventional studies are needed to define therapeutic strategies that address both gut inflammation and systemic metabolic disease.
Are we missing early pancreatic dysfunction? Expanding faecal elastase testing beyond pancreatic disease.
Pancreatic exocrine insufficiency (PEI) has long been associated with intrinsic pancreatic disease, yet emerging evidence shows it is under-recognized in patients with nonspecific gastrointestinal symptoms. This review summarizes prevalence data, evaluates the performance and utility of faecal elastase-1 (FE-1), highlights the co-existence of PEI with other luminal conditions, and explores the presence of early pancreatic dysfunction among a subset of patients with irritable bowel syndrome (IBS)-type symptoms. Updates from the 2025 European guidelines are discussed. Population studies estimate PEI prevalence at 11-21% in unselected gastroenterology cohorts. PEI is reported across coeliac disease, inflammatory bowel disease and functional gastrointestinal disorders, where overlapping symptoms can delay diagnosis. A 2025 meta-analysis of FE-1 performance demonstrated high sensitivity for moderate-severe PEI. Cohort data indicates repeat sampling can clarify borderline results. PEI may be an early marker of pancreatic dysfunction in a subset of patients with IBS-type symptoms. Identifying this group may offer opportunities for lifestyle modification with potential long-term benefit. Collectively, these findings expand the relevance of PEI beyond classical pancreatic disease. Broader, proactive FE-1 testing may allow earlier recognition, which might allow intervention at a potentially modifiable stage of pancreatic dysfunction, accepting the limitations of the test.
Metabotherapy for intestinal disease: using metabolites to prevent and treat disorders of the gut.
The gastrointestinal tract harbours a vast chemical diversity of small molecules, consisting of dietary nutrients, microorganism-derived metabolites and metabolic products of the host. The latest evidence highlights a direct involvement of different metabolites in the diverse aetiologies of intestinal diseases, ranging from inflammatory to metabolic and neoplastic conditions. The accessibility of the gastrointestinal tract to oral intervention suggests that fine-tuning the levels of intestinal metabolites might be a promising and currently underutilized therapeutic strategy. Here, we provide a conceptual overview of the recurring mechanistic themes by which metabolites shape the biology of immune cells, epithelium and neurons of the gastrointestinal tract. Additionally, we classify metabolites according to possible categories of therapeutic intervention, and summarize the latest preclinical and clinical data unveiling the roles of intestinal metabolites in the pathophysiology of major diseases of the gastrointestinal tract, including inflammatory bowel disease, irritable bowel syndrome, colorectal cancer, enteric infection, food allergy, coeliac disease, as well as obesity and metabolic syndrome. In each case, we provide an overview of the mechanisms by which intestinal metabolites have been associated with disease aetiology. In addition, we discuss possible metabolite-based strategies for intervention. Our overall goal is to provide a roadmap towards developing metabotherapies for intestinal disease.
Possible Crosstalk Between Small Intestinal Bacterial Overgrowth (SIBO) and Atopic Manifestations-A Short Overview.
Small intestinal bacterial overgrowth (SIBO) is an increasingly recognized condition that influences immune responses. It may be linked to atopic disorders such as bronchial asthma (BA), food allergies (FA), chronic spontaneous urticaria (CSU), and mast cell activation syndrome (MCAS). The aim of our study was to perform a structured literature search to assess the possible correlation between SIBO and the presentation of atopic disorders. The prevalence of SIBO was highest in patients with BA (60-100%) and FA (50-87.5%), followed by MCAS (30.9%) and CSU (27.9%). The diagnosis of SIBO was based on lactulose or glucose breath tests. SIBO exacerbated symptoms of atopic diseases, and treating it within BA and MCAS improved the symptoms, in contrast to CSU. The present evidence suggests a possible crosslink between SIBO and atopic manifestations. Bacterial overgrowth appears to trigger the Th2 immune response via the mucosal pathway and low-grade endotoxemia. These result in the increased synthesis of interleukins involved in allergic reactions (IL-4, IL-5, IL-13). Further studies are essential to confirm the clinical significance of this association. The "gut-allergy axis" may offer new therapeutic options and possibly improve quality of life in patients with atopy.
Publicações recentes
Mast cell mediators in hereditary angioedema.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 200
Microbiome-derived signaling molecules and the brain-gut axis: emerging mechanisms and clinical implications.
Current opinion in endocrinology, diabetes, and obesityFecal microbiota transplantation in murine models of colitis and short bowel syndrome: lessons learned, limitations, and translational perspectives.
Minerva gastroenterologyAdherence to Recommended Immunisation Schedules for Patients With Inflammatory Bowel Disease (IBD) on Biologics: A Retrospective Study at Our Lady's Hospital, Navan, Ireland.
CureusThe bidirectional effects and mechanisms of the oral and gut microbiomes: a narrative review.
Frontiers in immunologyFrom Gut to Metabolism: Exploring the Intersection of Inflammatory Bowel Disease and Systemic Metabolic Dysfunction.
Journal of clinical gastroenterologyExploring the metabolic mysteries: Mechanistic insights into lactylation-mediated regulation of autoimmune diseases.
Autoimmunity reviewsPolyamines as a Universal Language of Host-Microbiota Symbiosis.
Research (Washington, D.C.)Exosomal non-coding RNAs in autoimmune diseases: molecular mechanisms and potential applications.
Frontiers in immunologyInterplay of probiotics, prebiotics, synbiotics and postbiotics: a review of their therapeutic potential for gastrointestinal inflammation.
Food research international (Ottawa, Ont.)Serological and faecal markers of irritable bowel syndrome: a systematic review and meta-analysis.
EBioMedicineBeyond the binary: understanding inflammatory bowel disease in the context of HIV-induced immunodeficiency.
Expert review of clinical immunologyAre we missing early pancreatic dysfunction? Expanding faecal elastase testing beyond pancreatic disease.
Current opinion in gastroenterologyMetabotherapy for intestinal disease: using metabolites to prevent and treat disorders of the gut.
Nature reviews. Gastroenterology & hepatologyCase Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.
Frontiers in immunologyThe effects of different exercise interventions on clinical outcomes of irritable bowel syndrome and their potential mechanisms: a systematic review and network meta-analysis.
Frontiers in immunologyTRIM proteins as emerging regulators of immune pathways: potential therapeutic targets in immune-related disorders.
Frontiers in immunologyEmerging Therapeutic Approaches for Modulating the Intestinal Microbiota.
PharmaceuticsPossible Crosstalk Between Small Intestinal Bacterial Overgrowth (SIBO) and Atopic Manifestations-A Short Overview.
International journal of molecular sciencesPlacental extracellular vesicles stimulate intestinal re-growth after massive small bowel resection in a rat model.
Pediatric surgery internationalImmunomodulatory Effects of Hyoscine Butylbromide on Mammalian Macrophages.
Fundamental & clinical pharmacologyThe role of gut microbes in production of aromatic carboxaldehydes.
Gut microbesUnveiling Shared Genetic Architectures and Causality: Intestinal Diseases and Neurological Diseases.
Brain and behaviorHow loss-of-function mutations in IFIH1 contribute to infectious and/or inflammatory disease - a systematic review.
Journal of translational autoimmunitySevere 3,4-Methylenedioxymethamphetamine (MDMA)-Associated Rhabdomyolysis in Crohn's Disease: Direct Toxicity and Inflammatory Susceptibility in the Absence of Hyperthermia.
CureusSerotonin, Kynurenine, and Indole Pathways of Tryptophan Metabolism in Humans in Health and Disease.
NutrientsFunctional role of aquaporin 3 in osmoregulation, intestinal homeostasis, and antiviral defense in Pacific white shrimp (Litopenaeus vannamei).
Fish & shellfish immunologyTargeting the MPO/LCN2/GMPPB axis in IBS-depression comorbidity: Integrated multi-omics and bidirectional network pharmacology for precision diagnostics and therapeutics.
Computational biology and chemistryNOD2-Related Multisystem Inflammatory Disorders and Recent Advances.
Current rheumatology reportsThe Association Between Irritable Bowel Syndrome and Generalized Anxiety Disorder and Influencing Factors: A Mediation Mendelian Randomization Study.
Food science & nutritionA reciprocal interaction between L-lysine and Holdemanella biformis modulates intestinal barrier function and anxiety in irritable bowel syndrome.
iMetaOmicsInvestigating the Interplay between the Gut Microbiota and Host Immunity in Gastroenteric Disorders: The Potential of Combined Drug Therapies to Restore Microbial-immune Homeostasis.
Iranian journal of allergy, asthma, and immunologyPolysaccharide structural differences in Shenling Baizhu formulations and their therapeutic effects in ulcerative colitis and irritable bowel syndrome.
International journal of biological macromoleculesInvolvement of Eosinophil-Driven Intestinal Immune Activation in Different Irritable Bowel Syndrome Subtypes and in the Response to a FODMAP Lowering Diet: A Post Hoc Analysis of the Randomized Controlled DOMINO Trial.
GastroenterologyThe emerging paradigms of SETD family enzymes as epigenetic regulators of the immune response in inflammatory diseases.
Frontiers in immunologyGut-Microbiome Interactions: Characterization, Therapeutic Implications and Machine Learning.
Sage open pathologyCholinergic reflex control of inflammation: mechanistic and translational advances in transcutaneous auricular vagus nerve stimulation across rheumatic, metabolic, and postoperative disorders.
Frontiers in immunologyIleal Bile Acid Transporter Inhibitors in Cholestasis: Potential for More Than Just Paediatrics?
Liver international : official journal of the International Association for the Study of the LiverAssociation between the Gut Microbiota and the Pathophysiology of Irritable Bowel Syndrome - a Narrative Review.
DigestionNewly Diagnosed Crohn's Disease After SARS-CoV-2 Infection.
Case reports in gastrointestinal medicineScience of fecal microbiota transplant: From history to cutting-edge clinical practice.
World journal of gastrointestinal endoscopyShared genetic architecture between schizophrenia and gastrointestinal diseases: insights from large-scale genome-wide cross-trait analysis.
Annals of general psychiatryFusobacterium nucleatum plays a pathogenic role in a murine model of irritable bowel syndrome by modulating intestinal purine metabolism and promoting mast cell activation.
Gut microbesOral Local Budesonide Treatment Ameliorates Immune Activation and Colonic Sensitivity in a Spontaneous Model for Disorders of Gut-Brain Interaction.
Neurogastroenterology and motilityEosinophilic Gastrointestinal Disease After Pediatric Organ and Bone Marrow Transplantation.
JGH open : an open access journal of gastroenterology and hepatologySex-Dependent Microbial and Host Profiles Following Fecal Microbiota and Bifidobacterium longum Treatment in Stress-Induced Gut Dysbiosis.
Gut and liverMicrobiota-Driven Strategies for Managing IBD-Associated Risks: From Infections to Mental Health.
Pharmaceuticals (Basel, Switzerland)Overwinter Syndrome in Grass Carp (Ctenopharyngodon idellus) Links Enteric Viral Proliferation to Mucosal Disruption via Multiomics Investigation.
CellsG Protein-Coupled Receptors in Irritable Bowel Syndrome: Mechanisms and Therapeutic Opportunities.
International journal of molecular sciencesIgA Nephropathy in Adults: A Review.
JAMADelphi consensus: First-line use of biologics and small molecules in hidradenitis suppurativa.
Journal of the European Academy of Dermatology and Venereology : JEADVDietary polyphenols maintain human health through modulation of gut microbiota.
Frontiers in pharmacologyRapid flow cytometric diagnosis of XIAP deficiency.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyACE2 expression by colonic epithelial cells is associated with viral infection, immunity, and energy metabolism.
Scientific reportsSTAT3 gain-of-function mutation presenting with adult-onset recurrent abdominal pain, fever and lymphadenopathy, managed by JAK inhibitor therapy.
BMJ case reportsThe 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 microbiologyA set of downregulated pleiotropic genes are possible multi-omics biomarkers underlying the irritable bowel syndrome-non-alcoholic fatty liver disease comorbidity.
American journal of translational researchDiagnostic clues in patients with clinical malabsorption and pathological small intestinal villous atrophy: Immune-mediated type and beyond.
World journal of gastroenterologyBombesin improves visceral hypersensitivity and colonic hyperpermeability via BB1 receptor-dependent multi-pathway mechanisms in a rat model of irritable bowel syndrome.
European journal of pharmacologyMechanisms and pathophysiology leading to development of small intestinal microbial dysbiosis.
The lancet. Gastroenterology & hepatologyBehçet-like intestinal disease in a patient with trisomy 8-associated myelodysplastic syndrome (TRIAD).
BMJ case reportsMetabolic Comorbidities and Hospital Outcomes in Patients With Inflammatory Bowel Disease: A Nationwide Analysis.
Journal of clinical gastroenterologyMyelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review.
Case reports in gastrointestinal medicineTransient receptor potential channels as emerging therapeutic targets: mechanisms and therapeutic insights in inflammatory bowel disease.
Biochemical pharmacologyExploring the Muco-Microbiotic Interface as a Hub for Microbial Metabolites and Immune Regulation in Gastroenteric Health and Disease.
CellsThe Role of Extracellular Vesicles as Diagnostic Tools in Gut-Brain Axis Disorders.
Molecular neurobiologyTargeting γ-aminobutyric acid pathways in irritable bowel syndrome: bridging central nervous system, enteric dysfunction, and the microbiota-gut-brain axis.
Frontiers in pharmacologyMultifaceted role of interleukin-32 in inflammatory diseases and cancer.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieThe food grade bacterium Lactobacillus helveticus VEL12193 promotes autophagy by releasing membrane vesicles.
Cell communication and signaling : CCSMicrobial modulators of the epigenome: probiotic regulation of MiRNAs and LncRNAs in health and disease and preventive medicine.
Gut pathogensIncreased Autoimmunity Burden Is a Risk Factor for Developing Irritable Bowel Syndrome-Like Symptoms in Quiescent Inflammatory Bowel Disease.
Digestive diseases and sciencesMolecular, Cellular, Tissue, and Organismal Functions of Type III Interferons.
Annual review of immunologyEmerging Insights into the Interplay Between PANoptosis and Autophagy in Immune Regulation and Immune-Mediated Inflammatory Diseases.
Medical sciences (Basel, Switzerland)Immune Checkpoint Inhibition as a Novel Strategy for Microsatellite Instability-High Duodenal Adenocarcinoma: A Report of Three Cases.
Surgical case reportsCannabis use, microbial diversity and Dialister abundance in older adults with HIV: A cross-sectional study.
HIV medicineThe molecular interplay between the gut microbiome and circadian rhythms: an integrated review.
Frontiers in microbiologyThe role of dietary factors in the prevention and management of inflammatory bowel disease: a comprehensive review.
Nutrition & metabolismApplication of edible fungi in gut microbiota regulation.
NPJ science of foodEffects of Electroacupuncture at ST36 on Visceral Pain and Inflammatory Markers in IBS Rats.
Neurogastroenterology and motilityRevealing the Immune and Inflammatory Mechanisms of Electroacupuncture in Male IBS Rats Through Multi-Omics Analysis.
Neurogastroenterology and motilityThe melatonin-microbiome axis: a new frontier in gut health for the immunomodulatory, antioxidant and anti-inflammatory properties.
InflammopharmacologyUnraveling the Association Between Fibromyalgia and Irritable Bowel Syndrome: A Systematic Review.
CureusSARS-CoV-2 infection during pregnancy and necrotizing enterocolitis: case report and review of the literature.
Italian journal of pediatricsMulti-omics reveals gut microbiota-mediated environmental adaptation in Mallards and domesticated Shaoxing ducks.
Poultry scienceEnteric nervous system as a therapeutic target in gastrointestinal disorders.
World journal of gastrointestinal pharmacology and therapeuticsRecent Trend of Laboratory Tests in Common Gastrointestinal Tract Disorders.
Diagnostics (Basel, Switzerland)Polysaccharides from Atractylodes macrocephala: A Review of Mechanistic and Therapeutic Insights into Intestinal Disorders.
NutrientsRole of brain-gut axis in mechanism of gastrointestinal defense.
Journal of physiology and pharmacology : an official journal of the Polish Physiological SocietyParasitic 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 gastroenterologyAdvances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.
Intractable & rare diseases researchEarly-onset gastrointestinal amyloid A amyloidosis without renal involvement in a patient with RA-pSpA overlap: A case report.
MedicineModulating the lung-gut axis: A randomized controlled trial of Xie Bai Zeng Ye decoction on intestinal flora and mucosal immunity in children with post-infectious cough.
MedicineAttenuation of a contemporary Chinese PRRSV-1 strain via serial cell passage and evaluation of its protective efficacy as a modified live virus vaccine candidate.
VirologyDrug Management of Inflammatory Bowel Disease (IBD): A Narrative Review.
CureusTargeting Irritable Bowel Syndrome Through Diet and Mechanism-Based Therapies: A Pathophysiological Approach.
NutrientsThe Human Archaeome: Commensals, Opportunists, or Emerging Pathogens?
Pathogens (Basel, Switzerland)Non-Coeliac Wheat Sensitivity: Symptoms in Search of a Mechanism, or a Distinct Well-Defined Clinical Entity? A Narrative Review.
International journal of molecular sciencesMedicinal Plants for a Healthy Gut Microbiome: Scientific Insights into Modern Herbal Applications.
International journal of molecular sciencesSmall Intestinal Bacterial Overgrowth in Children with Short Bowel Syndrome.
Children (Basel, Switzerland)Gut Virome: What's the Role in Irritable Bowel Syndrome?
Reviews in medical virologyAssociation Between Irritable Bowel Syndrome and Hypothyroidism: Insights from Large-Scale Population-Based Studies.
Endocrine, metabolic & immune disorders drug targetsInteraction between gut microbiota and immunity in health and intestinal disease.
Frontiers in immunologyRhCMV expands CCR5+ memory T cells and promotes SIV reservoir seeding in the gut mucosa.
JCI insightSecondary Hemophagocytic Lymphohistiocytosis in a Patient With Crohn's Disease Receiving Infliximab: A Diagnostic Challenge.
CureusCannabis use, microbial diversity, and Dialister abundance in older adults with HIV: a cross-sectional study.
medRxiv : the preprint server for health sciencesGut microbiota in irritable bowel syndrome: a narrative review of mechanisms and microbiome-based therapies.
Frontiers in immunologyThymosin β4 released by mast cells under stress conditions impairs intestinal epithelial barrier via IL22RA1/JAK1/STAT3 signaling in irritable bowel syndrome.
World journal of gastroenterologyCharacterization of monoclonal antibody against IgM and phagocytic function of IgM+ B cells in snakehead (Channa argus).
Fish & shellfish immunologyAutoimmune encephalitis following bevacizumab therapy in ovarian carcinoma: A case report and review.
Journal of neuroimmunologyBranched actin networks mediate macrophage-dependent host-microbiota homeostasis.
Science (New York, N.Y.)Necrotising Pancreatitis in a Patient with Crest Syndrome: A Rare Autoimmune Gastrointestinal Complication.
European journal of case reports in internal medicineHarnessing Edible Insect Bioactives for Gut Health: A Comprehensive Review on Chitin-Derived Prebiotics and Peptidomic Insights from the Black Soldier Fly.
Foods (Basel, Switzerland)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 MDPIUnraveling the Pathophysiology of Irritable Bowel Syndrome: Mechanisms and Insights.
International journal of molecular sciencesSaccharomyces boulardii's impact on pediatric diarrhea-predominant irritable bowel syndrome: animal model findings.
Pediatric researchDEFB4A/hBD2, a non-invasive serum biomarker for detection of ulcerative colitis.
Scientific reportsCXCR5-engineered mesenchymal stromal cells home to spleen and mitigate post-sepsis syndrome by preventing secondary infection.
Stem cell research & therapyCurrent Landscape of Novel Therapeutic Agents and Drug Targets in Irritable Bowel Syndrome.
Archiv der PharmazieEngineering hope: tissue-engineered intestine as a breakthrough for pediatric short bowel syndrome.
Annals of medicine and surgery (2012)A comprehensive overview of the effects of probiotics, prebiotics and synbiotics on the gut-brain axis.
Frontiers in microbiologyA typical presentation of AMSAN variant of guillain-barré syndrome in an elderly female with multisystem involvement: A case report.
BioinformationCase Report: Autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease.
Frontiers in endocrinologySynergistic Modulation of the Gut-Brain-Immune Axis by a Dual Lactobacillus Combination in a Murine IBS Model.
Journal of microbiology and biotechnologyInterferons in Autoimmunity: From Loss of Tolerance to Chronic Inflammation.
BiomedicinesUnveiling CD177: a key player in tumors, autoimmune diseases, and inflammatory disorders.
Frontiers in immunologyProbiotics: mechanism of action and gastrointestinal health: gut guardians: unlocking the power of probiotics.
Journal of the science of food and agricultureCutaneous Manifestations and Dermatologic Adverse Events in IBD: A Clinical Update.
Inflammatory bowel diseases[Irritable Bowel Syndrome].
The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chiSpleen Transcriptome of Nonhuman Primates Exposed to High Doses of Total- or Partial-Body Radiation: Comparisons with Jejunum and Lung.
Radiation researchAn animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.
Cellular & molecular immunologyProteases in intestinal health and disease.
Nature reviews. Gastroenterology & hepatologyDeciphering the microbiological mechanism of Tongxie Yaofang in treating IBS-D: a multimodal mechanistic study in mice integrating network pharmacology, computational simulation, and 16S rRNA sequencing.
Experimental biology and medicine (Maywood, N.J.)Bupi Yishen formula against chronic kidney injury via Akkermansia muciniphila mediated group 3 innate lymphoid cells activation to repair intestinal barrier funciton.
Phytomedicine : international journal of phytotherapy and phytopharmacologySimilar Symptoms, Distinct Syndromes: Multi-modal Approach to the Patient with an IBD-IBS Overlap.
Digestive diseases and sciencesSymptoms but Not Physiology Differentiate Functional Dyspepsia With or Without Overlapping Gastrointestinal Disorders.
Clinical and translational gastroenterologyTriacetin and a Mushroom Blend Restore Butyrate Production by IBS Microbiomes Ex Vivo, Thus Promoting Barrier Integrity.
International journal of molecular sciencesAssessment of intestinal barrier integrity and associations with innate immune activation and metabolic syndrome in acutely ill, antipsychotic-free schizophrenia patients.
Journal of neuroinflammationThe effect of SARS-CoV-2 infection on the liver function tests: a systematic review and meta-analysis of observational studies.
Przeglad gastroenterologicznyDiscovery of a 1H-Pyrazol-3-Amine Derivative as a Novel, Selective, and Orally Available RIPK1 Inhibitor for the Treatment of Inflammatory Disease.
Journal of medicinal chemistryImpact of GLP-1 analogues on immune-mediated inflammatory diseases: A systematic review.
Autoimmunity reviewsRoles of glucagon-like peptide 1 receptor agonists in immune cell biology and autoimmune/autoinflammatory diseases.
Cell & bioscienceSympathetic Overactivation Drives Colonic Eosinophil Infiltration Linked to Visceral Hypersensitivity in Irritable Bowel Syndrome.
Cellular and molecular gastroenterology and hepatologyCold-inducible RNA-binding protein promotes gut barrier dysfunction and visceral hypersensitivity via activating mast cells in IBS-D.
International immunopharmacologyDEFA5-producing CD4+ T cells in the intestines of atopic dermatitis patients play an important role in the development of AD-associated intestinal inflammation.
Frontiers in immunologyImmune-mediated mechanisms of cognitive memory dysfunction: From autoimmune diseases to therapeutic neuromodulation.
Brain researchIdentification of a PRDM1-regulated T cell network to regulate atherosclerotic plaque inflammation.
Genome medicineMicrobiota-derived aromatic amino acid decarboxylases: linking microbial fitness and host neurochemical communication.
mBioA Single Bout of High-Intensity Running Exercise Transiently and Reversibly Increases Intestinal Permeability and Neutrophil Recruitment in the Mouse Intestine.
Medicine and science in sports and exerciseEffects of dietary vitamin E on growth, immune response, antioxidant capacity, intestinal histomorphology, digestibility and disease resistance of juvenile Pacific white shrimp (Penaeus vannamei).
PloS oneThe AhR/IL-22 axis in chronic gut inflammation: unraveling mechanisms and therapeutic prospects.
Frontiers in immunologyMicrobiome-Gut-Brain Axis: Implications for the Links Between Inflammatory Bowel Disease and Neuropsychiatric Disorders.
Journal of inflammation researchA Multicenter Observational Study for the Establishment of Novel Severity Criteria Including Endoscopic Evaluation for Intestinal Behçet's Disease.
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy SocietyTrends and hotspots in research of virus and gastrointestinal mucosal immunity: a bibliometric analysis of four decades.
Virology journalFibrosis in Immune-Mediated and Autoimmune Disorders.
Journal of clinical medicineMechanistic Insights into a Self-Management Intervention in Young Adults with Irritable Bowel Syndrome: A Pilot Multi-Omics Study.
BiomedicinesRhodotorula mucilaginosa Supplementation Could Significantly Affect the Growth Performance, Digestive Enzyme Activity, Antioxidant Capacity, Immune Function, and Intestinal Health in Red Claw Crayfish (Cherax quadricarinatus).
BiologyNovel loss-of-function intronic mutation in ELF4 is associated with intestinal autoinflammation.
Mucosal immunologyInvestigation of the biomarkers and mechanism based on endoplasmic reticulum stress in irritable bowel syndrome.
Arab journal of gastroenterology : the official publication of the Pan-Arab Association of GastroenterologyGut microbiota: A key player for soluble dietary fiber in regulating inflammatory disease.
Journal of advanced researchAltered distribution of tissue galectins correlates with mucosal dysregulation in SIV infection.
Journal of immunology (Baltimore, Md. : 1950)Unravelling γδ T-cell dysregulation in the gut and its implications for immune-mediated diseases.
Disease models & mechanisms[Role of Intestinal Mucosal Barrier in Type 2 Diabetes Mellitus and Research Progress in Chinese Medicine Interventions].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionThe Role of Ganyu in Formation of Liver Depression and Spleen Deficiency Syndrome: Analysis From Gut Microbiota.
Gastroenterology research and practiceThe Glucocorticoid System: A Multifaceted Regulator of Mitochondrial Function, Endothelial Homeostasis, and Intestinal Barrier Integrity.
Seminars in respiratory and critical care medicinePeriodontal Manifestations of Systemic Diseases.
Journal of periodontal researchAssociation of autoimmune disease with melanoma and nonmelanoma skin cancers.
Clinical and experimental dermatologyShen Ling Bai Zhu San promotes gut IgA+ plasma cells to alleviate chronic diarrhea in mice via increasing systematic glutamine.
Journal of ethnopharmacologyDeciphering Gut Microbiome Dynamics in Irritable Bowel Syndrome Using Deep Learning.
Neurogastroenterology and motilityNeurogastroenterology: Current insights into gastrointestinal innervation in health and disease.
Autonomic neuroscience : basic & clinicalHarmonizing gut microbiota dysbiosis: Unveiling the influence of diet and lifestyle interventions.
Metabolism openA Novel CHRM3-Driven Preclinical Model of Irritable Bowel Syndrome.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyPDE4 inhibitor apremilast ameliorates TNBS-induced irritable bowel syndrome in mice by activating the Nrf-2 signaling pathway in enteric glial cells.
Acta pharmacologica SinicaSleep Disturbances, Fatigue and Immune Markers in the Irritable Bowel Syndrome and Inflammatory Bowel Disease, a Systematic Review.
Neurogastroenterology and motilityResistant Starch and Microbiota-Derived Secondary Metabolites: A Focus on Postbiotic Pathways in Gut Health and Irritable Bowel Syndrome.
International journal of molecular sciencesHidradenitis suppurativa: state-of-the-art review and update.
Dermatology reportsPost-acute Corticospinal and Spinal Tractopathy after Coronavirus Disease 2019: A Novel Post-infectious Neurological Syndrome?
Internal medicine (Tokyo, Japan)More than the Lesion: Unraveling the Complexities of Endometriosis-Associated Pain.
Seminars in reproductive medicineIntegrating gene expression, neurochemical signatures, and neurocognitive profiles to decode cortical reorganization in IBS-D.
Progress in neuro-psychopharmacology & biological psychiatryThe evolution of irritable bowel syndrome as a group of organic diseases: a narrative review.
Expert review of gastroenterology & hepatologyHeat-killed Lactobacillus acidophilus suppresses SARS-CoV-2 infection in the human intestinal epithelial cell line Caco-2.
Frontiers in cellular and infection microbiologyRisk of new onset of immune-mediated diseases after SARS-CoV-2 infection: A systematic review and meta-analysis.
Seminars in arthritis and rheumatismThe intricate interactions between the lungs and gut in patients: unraveling the crosstalk mechanism.
Frontiers in medicineMulti-organ pathology in a small porcine model of cytokine storm syndrome characteristics.
Frontiers in immunologyEffect of Sodium Butyrate and Sishen Pill Combination on Diarrhea with Kidney-Yang Deficiency Syndrome Was Associated with Intestinal Mucosal Microbiota and Immune Barrier.
Journal of inflammation researchFunctional and internalizing disorders co-aggregate with cardiometabolic and immune-related diseases within families: a population-based cohort study.
BMC medicineFunctional Design Considerations for Developing a Gut Health Application to Prevent LOH Syndrome.
Studies in health technology and informaticsLongitudinal single-cell analysis of glucagon-like peptide-2 treatment in patients with short bowel syndrome.
JCI insightCoeliac disease and microbiota: is it time for personalised biotics intervention? A scoping review.
BMJ nutrition, prevention & healthAltered peripheral CRY1 gene expression may contribute to both organic and functional gastrointestinal disease.
Experimental physiologyLow Fermentable Oligosaccharides, Disaccharides, Monosaccharides, and Polyols Diet Improves Colonic Barrier Function and Mast Cell Activation in Patients With Diarrhea-Predominant Irritable Bowel Syndrome: A Mechanistic Trial.
GastroenterologyNeoadjuvant immunotherapy for nonmetastatic dMMR/MSI colon cancer: a real-world retrospective AGEO study.
ESMO openGlucokinase activators contribute to gastrointestinal disease risks through metabolic-immune interplay in the gut-liver axis: insights from a multi-omics study.
Acta diabetologicaProbiotic-derived postbiotics: a perspective on next-generation therapeutics.
Frontiers in nutritionBased on Proteomics Data Revealing the Potential of Traditional Chinese Medicine in Treating Irritable Bowel Syndrome.
Mediators of inflammationMechanisms and Nanomedicine Interventions of Acute Lung Injury Induced by Intestinal Ischemia-Reperfusion: A Mini Review.
International journal of nanomedicineThe Role of Epstein-Barr Virus in the Pathogenesis of Autoimmune Diseases.
Medicina (Kaunas, Lithuania)Maternal emulsifier consumption alters the offspring early-life microbiota and goblet cell function leading to long-lasting diseases susceptibility.
Nature communicationsRewiring the Brain Through the Gut: Insights into Microbiota-Nervous System Interactions.
Current issues in molecular biologyExploring vaccine safety and adverse events in major autoimmune diseases.
Autoimmunity reviewsEffect of gluten and wheat on symptoms and behaviours in adults with irritable bowel syndrome: a single-centre, randomised, double-blind, sham-controlled crossover trial.
The lancet. Gastroenterology & hepatologyThe hidden genetic and microbial networks connecting neuropsychiatric and digestive disorders.
Computational and structural biotechnology journalAssociações
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-linfopenia.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infecções recorrentes-linfopenia
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
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.
- Fecal microbiota transplantation in murine models of colitis and short bowel syndrome: lessons learned, limitations, and translational perspectives.
- From Gut to Metabolism: Exploring the Intersection of Inflammatory Bowel Disease and Systemic Metabolic Dysfunction.
- Are we missing early pancreatic dysfunction? Expanding faecal elastase testing beyond pancreatic disease.
- Metabotherapy for intestinal disease: using metabolites to prevent and treat disorders of the gut.
- Possible Crosstalk Between Small Intestinal Bacterial Overgrowth (SIBO) and Atopic Manifestations-A Short Overview.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:529977(Orphanet)
- MONDO:0033968(MONDO)
- GARD:22204(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q102296571(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