Raras
Buscar doenças, sintomas, genes...
Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infecções recorrentes-linfopenia
ORPHA:529977CID-10 · D89.8CID-11 · 4A01.2YDOENÇA RARA
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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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
7
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D89.8
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Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025116 papers
Linha do tempo
2026Hoje · 2026📈 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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

RIPK1Receptor-interacting serine/threonine-protein kinase 1Disease-causing germline mutation(s) (loss of function) inRestrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmCell membrane

VIAS BIOLÓGICAS (10)
Ub-specific processing proteasesMicrobial modulation of RIPK1-mediated regulated necrosisRegulation of TNFR1 signalingTNF signalingRIPK1-mediated regulated necrosis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
37.7 TPM
Tecido adiposo
37.2 TPM
Skin Not Sun Exposed Suprapubic
36.6 TPM
Baço
36.0 TPM
Intestino delgado
35.1 TPM
OUTRAS DOENÇAS (3)
immunodeficiency 57autoinflammation with episodic fever and lymphadenopathyimmune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
HGNC:10019UniProt:Q13546

Variantes genéticas (ClinVar)

93 variantes patogênicas registradas no ClinVar.

🧬 RIPK1: NM_001354930.2(RIPK1):c.972T>A (p.Asp324Glu) ()
🧬 RIPK1: NM_001354930.2(RIPK1):c.1850A>G (p.His617Arg) ()
🧬 RIPK1: NM_001354930.2(RIPK1):c.1729+14G>T ()
🧬 RIPK1: GRCh37/hg19 6p25.3-25.1(chr6:154749-5886174)x1 ()
🧬 RIPK1: NM_001354930.2(RIPK1):c.971A>G (p.Asp324Gly) ()
Ver todas no ClinVar

Diagnóstico

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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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

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Fecal microbiota transplantation in murine models of colitis and short bowel syndrome: lessons learned, limitations, and translational perspectives.

Minerva gastroenterology2026 Mar

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.

#2

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

Journal of clinical gastroenterology2026 Mar 11

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.

#3

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

Current opinion in gastroenterology2026 Mar 04

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.

#4

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

Nature reviews. Gastroenterology &amp; hepatology2026 Mar 02

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.

#5

Possible Crosstalk Between Small Intestinal Bacterial Overgrowth (SIBO) and Atopic Manifestations-A Short Overview.

International journal of molecular sciences2026 Feb 15

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

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Microbiome-derived signaling molecules and the brain-gut axis: emerging mechanisms and clinical implications.

Current opinion in endocrinology, diabetes, and obesity
2026

Fecal microbiota transplantation in murine models of colitis and short bowel syndrome: lessons learned, limitations, and translational perspectives.

Minerva gastroenterology
2026

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

Cureus
2026

The bidirectional effects and mechanisms of the oral and gut microbiomes: a narrative review.

Frontiers in immunology
2026

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

Journal of clinical gastroenterology
2026

Exploring the metabolic mysteries: Mechanistic insights into lactylation-mediated regulation of autoimmune diseases.

Autoimmunity reviews
2026

Polyamines as a Universal Language of Host-Microbiota Symbiosis.

Research (Washington, D.C.)
2026

Exosomal non-coding RNAs in autoimmune diseases: molecular mechanisms and potential applications.

Frontiers in immunology
2026

Interplay of probiotics, prebiotics, synbiotics and postbiotics: a review of their therapeutic potential for gastrointestinal inflammation.

Food research international (Ottawa, Ont.)
2026

Serological and faecal markers of irritable bowel syndrome: a systematic review and meta-analysis.

EBioMedicine
2026

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

Expert review of clinical immunology
2026

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

Current opinion in gastroenterology
2026

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

Nature reviews. Gastroenterology &amp; hepatology
2026

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

Frontiers in immunology
2026

The 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 immunology
2026

TRIM proteins as emerging regulators of immune pathways: potential therapeutic targets in immune-related disorders.

Frontiers in immunology
2026

Emerging Therapeutic Approaches for Modulating the Intestinal Microbiota.

Pharmaceutics
2026

Possible Crosstalk Between Small Intestinal Bacterial Overgrowth (SIBO) and Atopic Manifestations-A Short Overview.

International journal of molecular sciences
2026

Placental extracellular vesicles stimulate intestinal re-growth after massive small bowel resection in a rat model.

Pediatric surgery international
2026

Immunomodulatory Effects of Hyoscine Butylbromide on Mammalian Macrophages.

Fundamental &amp; clinical pharmacology
2026

The role of gut microbes in production of aromatic carboxaldehydes.

Gut microbes
2026

Unveiling Shared Genetic Architectures and Causality: Intestinal Diseases and Neurological Diseases.

Brain and behavior
2026

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

Journal of translational autoimmunity
2026

Severe 3,4-Methylenedioxymethamphetamine (MDMA)-Associated Rhabdomyolysis in Crohn's Disease: Direct Toxicity and Inflammatory Susceptibility in the Absence of Hyperthermia.

Cureus
2026

Serotonin, Kynurenine, and Indole Pathways of Tryptophan Metabolism in Humans in Health and Disease.

Nutrients
2026

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

Fish &amp; shellfish immunology
2026

Targeting the MPO/LCN2/GMPPB axis in IBS-depression comorbidity: Integrated multi-omics and bidirectional network pharmacology for precision diagnostics and therapeutics.

Computational biology and chemistry
2026

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.

Current rheumatology reports
2026

The Association Between Irritable Bowel Syndrome and Generalized Anxiety Disorder and Influencing Factors: A Mediation Mendelian Randomization Study.

Food science &amp; nutrition
2025

A reciprocal interaction between L-lysine and Holdemanella biformis modulates intestinal barrier function and anxiety in irritable bowel syndrome.

iMetaOmics
2026

Investigating 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 immunology
2026

Polysaccharide structural differences in Shenling Baizhu formulations and their therapeutic effects in ulcerative colitis and irritable bowel syndrome.

International journal of biological macromolecules
2026

Involvement 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.

Gastroenterology
2026

The emerging paradigms of SETD family enzymes as epigenetic regulators of the immune response in inflammatory diseases.

Frontiers in immunology
2026

Gut-Microbiome Interactions: Characterization, Therapeutic Implications and Machine Learning.

Sage open pathology
2025

Cholinergic reflex control of inflammation: mechanistic and translational advances in transcutaneous auricular vagus nerve stimulation across rheumatic, metabolic, and postoperative disorders.

Frontiers in immunology
2026

Ileal 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 Liver
2026

Association between the Gut Microbiota and the Pathophysiology of Irritable Bowel Syndrome - a Narrative Review.

Digestion
2026

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

Case reports in gastrointestinal medicine
2026

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

World journal of gastrointestinal endoscopy
2026

Shared genetic architecture between schizophrenia and gastrointestinal diseases: insights from large-scale genome-wide cross-trait analysis.

Annals of general psychiatry
2026

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

Gut microbes
2026

Oral Local Budesonide Treatment Ameliorates Immune Activation and Colonic Sensitivity in a Spontaneous Model for Disorders of Gut-Brain Interaction.

Neurogastroenterology and motility
2026

Eosinophilic Gastrointestinal Disease After Pediatric Organ and Bone Marrow Transplantation.

JGH open : an open access journal of gastroenterology and hepatology
2026

Sex-Dependent Microbial and Host Profiles Following Fecal Microbiota and Bifidobacterium longum Treatment in Stress-Induced Gut Dysbiosis.

Gut and liver
2026

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

Pharmaceuticals (Basel, Switzerland)
2026

Overwinter Syndrome in Grass Carp (Ctenopharyngodon idellus) Links Enteric Viral Proliferation to Mucosal Disruption via Multiomics Investigation.

Cells
2026

G Protein-Coupled Receptors in Irritable Bowel Syndrome: Mechanisms and Therapeutic Opportunities.

International journal of molecular sciences
2026

IgA Nephropathy in Adults: A Review.

JAMA
2026

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

Journal of the European Academy of Dermatology and Venereology : JEADV
2025

Dietary polyphenols maintain human health through modulation of gut microbiota.

Frontiers in pharmacology
2026

Rapid flow cytometric diagnosis of XIAP deficiency.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2026

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

Scientific reports
2026

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

BMJ case reports
2025

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

Frontiers in cellular and infection microbiology
2025

A 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 research
2026

Diagnostic clues in patients with clinical malabsorption and pathological small intestinal villous atrophy: Immune-mediated type and beyond.

World journal of gastroenterology
2026

Bombesin improves visceral hypersensitivity and colonic hyperpermeability via BB1 receptor-dependent multi-pathway mechanisms in a rat model of irritable bowel syndrome.

European journal of pharmacology
2026

Mechanisms and pathophysiology leading to development of small intestinal microbial dysbiosis.

The lancet. Gastroenterology &amp; hepatology
2026

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

BMJ case reports
2026

Metabolic Comorbidities and Hospital Outcomes in Patients With Inflammatory Bowel Disease: A Nationwide Analysis.

Journal of clinical gastroenterology
2026

Myelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review.

Case reports in gastrointestinal medicine
2026

Transient receptor potential channels as emerging therapeutic targets: mechanisms and therapeutic insights in inflammatory bowel disease.

Biochemical pharmacology
2025

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

Cells
2026

The Role of Extracellular Vesicles as Diagnostic Tools in Gut-Brain Axis Disorders.

Molecular neurobiology
2025

Targeting γ-aminobutyric acid pathways in irritable bowel syndrome: bridging central nervous system, enteric dysfunction, and the microbiota-gut-brain axis.

Frontiers in pharmacology
2026

Multifaceted role of interleukin-32 in inflammatory diseases and cancer.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2026

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

Cell communication and signaling : CCS
2026

Microbial modulators of the epigenome: probiotic regulation of MiRNAs and LncRNAs in health and disease and preventive medicine.

Gut pathogens
2026

Increased Autoimmunity Burden Is a Risk Factor for Developing Irritable Bowel Syndrome-Like Symptoms in Quiescent Inflammatory Bowel Disease.

Digestive diseases and sciences
2026

Molecular, Cellular, Tissue, and Organismal Functions of Type III Interferons.

Annual review of immunology
2025

Emerging Insights into the Interplay Between PANoptosis and Autophagy in Immune Regulation and Immune-Mediated Inflammatory Diseases.

Medical sciences (Basel, Switzerland)
2025

Immune Checkpoint Inhibition as a Novel Strategy for Microsatellite Instability-High Duodenal Adenocarcinoma: A Report of Three Cases.

Surgical case reports
2025

Cannabis use, microbial diversity and Dialister abundance in older adults with HIV: A cross-sectional study.

HIV medicine
2025

The molecular interplay between the gut microbiome and circadian rhythms: an integrated review.

Frontiers in microbiology
2025

The role of dietary factors in the prevention and management of inflammatory bowel disease: a comprehensive review.

Nutrition &amp; metabolism
2025

Application of edible fungi in gut microbiota regulation.

NPJ science of food
2025

Effects of Electroacupuncture at ST36 on Visceral Pain and Inflammatory Markers in IBS Rats.

Neurogastroenterology and motility
2025

Revealing the Immune and Inflammatory Mechanisms of Electroacupuncture in Male IBS Rats Through Multi-Omics Analysis.

Neurogastroenterology and motility
2026

The melatonin-microbiome axis: a new frontier in gut health for the immunomodulatory, antioxidant and anti-inflammatory properties.

Inflammopharmacology
2025

Unraveling the Association Between Fibromyalgia and Irritable Bowel Syndrome: A Systematic Review.

Cureus
2025

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

Italian journal of pediatrics
2026

Multi-omics reveals gut microbiota-mediated environmental adaptation in Mallards and domesticated Shaoxing ducks.

Poultry science
2025

Enteric nervous system as a therapeutic target in gastrointestinal disorders.

World journal of gastrointestinal pharmacology and therapeutics
2025

Recent Trend of Laboratory Tests in Common Gastrointestinal Tract Disorders.

Diagnostics (Basel, Switzerland)
2025

Polysaccharides from Atractylodes macrocephala: A Review of Mechanistic and Therapeutic Insights into Intestinal Disorders.

Nutrients
2025

Role of brain-gut axis in mechanism of gastrointestinal defense.

Journal of physiology and pharmacology : an official journal of the Polish Physiological Society
2025

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

BMJ open gastroenterology
2025

Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.

Intractable &amp; rare diseases research
2025

Early-onset gastrointestinal amyloid A amyloidosis without renal involvement in a patient with RA-pSpA overlap: A case report.

Medicine
2025

Modulating 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.

Medicine
2026

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

Virology
2025

Drug Management of Inflammatory Bowel Disease (IBD): A Narrative Review.

Cureus
2025

Targeting Irritable Bowel Syndrome Through Diet and Mechanism-Based Therapies: A Pathophysiological Approach.

Nutrients
2025

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

Pathogens (Basel, Switzerland)
2025

Non-Coeliac Wheat Sensitivity: Symptoms in Search of a Mechanism, or a Distinct Well-Defined Clinical Entity? A Narrative Review.

International journal of molecular sciences
2025

Medicinal Plants for a Healthy Gut Microbiome: Scientific Insights into Modern Herbal Applications.

International journal of molecular sciences
2025

Small Intestinal Bacterial Overgrowth in Children with Short Bowel Syndrome.

Children (Basel, Switzerland)
2025

Gut Virome: What's the Role in Irritable Bowel Syndrome?

Reviews in medical virology
2025

Association Between Irritable Bowel Syndrome and Hypothyroidism: Insights from Large-Scale Population-Based Studies.

Endocrine, metabolic &amp; immune disorders drug targets
2025

Interaction between gut microbiota and immunity in health and intestinal disease.

Frontiers in immunology
2026

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

JCI insight
2025

Secondary Hemophagocytic Lymphohistiocytosis in a Patient With Crohn's Disease Receiving Infliximab: A Diagnostic Challenge.

Cureus
2025

Cannabis use, microbial diversity, and Dialister abundance in older adults with HIV: a cross-sectional study.

medRxiv : the preprint server for health sciences
2025

Gut microbiota in irritable bowel syndrome: a narrative review of mechanisms and microbiome-based therapies.

Frontiers in immunology
2025

Thymosin β4 released by mast cells under stress conditions impairs intestinal epithelial barrier via IL22RA1/JAK1/STAT3 signaling in irritable bowel syndrome.

World journal of gastroenterology
2026

Characterization of monoclonal antibody against IgM and phagocytic function of IgM+ B cells in snakehead (Channa argus).

Fish &amp; shellfish immunology
2026

Autoimmune encephalitis following bevacizumab therapy in ovarian carcinoma: A case report and review.

Journal of neuroimmunology
2025

Branched actin networks mediate macrophage-dependent host-microbiota homeostasis.

Science (New York, N.Y.)
2025

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

European journal of case reports in internal medicine
2025

Harnessing Edible Insect Bioactives for Gut Health: A Comprehensive Review on Chitin-Derived Prebiotics and Peptidomic Insights from the Black Soldier Fly.

Foods (Basel, Switzerland)
2025

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

Animals : an open access journal from MDPI
2025

Unraveling the Pathophysiology of Irritable Bowel Syndrome: Mechanisms and Insights.

International journal of molecular sciences
2025

Saccharomyces boulardii's impact on pediatric diarrhea-predominant irritable bowel syndrome: animal model findings.

Pediatric research
2025

DEFB4A/hBD2, a non-invasive serum biomarker for detection of ulcerative colitis.

Scientific reports
2025

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

Stem cell research &amp; therapy
2025

Current Landscape of Novel Therapeutic Agents and Drug Targets in Irritable Bowel Syndrome.

Archiv der Pharmazie
2025

Engineering hope: tissue-engineered intestine as a breakthrough for pediatric short bowel syndrome.

Annals of medicine and surgery (2012)
2025

A comprehensive overview of the effects of probiotics, prebiotics and synbiotics on the gut-brain axis.

Frontiers in microbiology
2025

A typical presentation of AMSAN variant of guillain-barré syndrome in an elderly female with multisystem involvement: A case report.

Bioinformation
2025

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

Frontiers in endocrinology
2025

Synergistic Modulation of the Gut-Brain-Immune Axis by a Dual Lactobacillus Combination in a Murine IBS Model.

Journal of microbiology and biotechnology
2025

Interferons in Autoimmunity: From Loss of Tolerance to Chronic Inflammation.

Biomedicines
2025

Unveiling CD177: a key player in tumors, autoimmune diseases, and inflammatory disorders.

Frontiers in immunology
2025

Probiotics: mechanism of action and gastrointestinal health: gut guardians: unlocking the power of probiotics.

Journal of the science of food and agriculture
2026

Cutaneous Manifestations and Dermatologic Adverse Events in IBD: A Clinical Update.

Inflammatory bowel diseases
2025

[Irritable Bowel Syndrome].

The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi
2026

Spleen Transcriptome of Nonhuman Primates Exposed to High Doses of Total- or Partial-Body Radiation: Comparisons with Jejunum and Lung.

Radiation research
2025

An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.

Cellular &amp; molecular immunology
2026

Proteases in intestinal health and disease.

Nature reviews. Gastroenterology &amp; hepatology
2025

Deciphering 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.)
2025

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 phytopharmacology
2026

Similar Symptoms, Distinct Syndromes: Multi-modal Approach to the Patient with an IBD-IBS Overlap.

Digestive diseases and sciences
2025

Symptoms but Not Physiology Differentiate Functional Dyspepsia With or Without Overlapping Gastrointestinal Disorders.

Clinical and translational gastroenterology
2025

Triacetin and a Mushroom Blend Restore Butyrate Production by IBS Microbiomes Ex Vivo, Thus Promoting Barrier Integrity.

International journal of molecular sciences
2025

Assessment of intestinal barrier integrity and associations with innate immune activation and metabolic syndrome in acutely ill, antipsychotic-free schizophrenia patients.

Journal of neuroinflammation
2025

The effect of SARS-CoV-2 infection on the liver function tests: a systematic review and meta-analysis of observational studies.

Przeglad gastroenterologiczny
2025

Discovery 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 chemistry
2026

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

Autoimmunity reviews
2025

Roles of glucagon-like peptide 1 receptor agonists in immune cell biology and autoimmune/autoinflammatory diseases.

Cell &amp; bioscience
2026

Sympathetic Overactivation Drives Colonic Eosinophil Infiltration Linked to Visceral Hypersensitivity in Irritable Bowel Syndrome.

Cellular and molecular gastroenterology and hepatology
2025

Cold-inducible RNA-binding protein promotes gut barrier dysfunction and visceral hypersensitivity via activating mast cells in IBS-D.

International immunopharmacology
2025

DEFA5-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 immunology
2025

Immune-mediated mechanisms of cognitive memory dysfunction: From autoimmune diseases to therapeutic neuromodulation.

Brain research
2025

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

Genome medicine
2025

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

mBio
2026

A 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 exercise
2025

Effects of dietary vitamin E on growth, immune response, antioxidant capacity, intestinal histomorphology, digestibility and disease resistance of juvenile Pacific white shrimp (Penaeus vannamei).

PloS one
2025

The AhR/IL-22 axis in chronic gut inflammation: unraveling mechanisms and therapeutic prospects.

Frontiers in immunology
2025

Microbiome-Gut-Brain Axis: Implications for the Links Between Inflammatory Bowel Disease and Neuropsychiatric Disorders.

Journal of inflammation research
2026

A 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 Society
2025

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

Virology journal
2025

Fibrosis in Immune-Mediated and Autoimmune Disorders.

Journal of clinical medicine
2025

Mechanistic Insights into a Self-Management Intervention in Young Adults with Irritable Bowel Syndrome: A Pilot Multi-Omics Study.

Biomedicines
2025

Rhodotorula mucilaginosa Supplementation Could Significantly Affect the Growth Performance, Digestive Enzyme Activity, Antioxidant Capacity, Immune Function, and Intestinal Health in Red Claw Crayfish (Cherax quadricarinatus).

Biology
2025

Novel loss-of-function intronic mutation in ELF4 is associated with intestinal autoinflammation.

Mucosal immunology
2025

Investigation 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 Gastroenterology
2025

Gut microbiota: A key player for soluble dietary fiber in regulating inflammatory disease.

Journal of advanced research
2026

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

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

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

Disease models &amp; mechanisms
2025

[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 edition
2025

The Role of Ganyu in Formation of Liver Depression and Spleen Deficiency Syndrome: Analysis From Gut Microbiota.

Gastroenterology research and practice
2026

The Glucocorticoid System: A Multifaceted Regulator of Mitochondrial Function, Endothelial Homeostasis, and Intestinal Barrier Integrity.

Seminars in respiratory and critical care medicine
2025

Periodontal Manifestations of Systemic Diseases.

Journal of periodontal research
2025

Association of autoimmune disease with melanoma and nonmelanoma skin cancers.

Clinical and experimental dermatology
2026

Shen Ling Bai Zhu San promotes gut IgA+ plasma cells to alleviate chronic diarrhea in mice via increasing systematic glutamine.

Journal of ethnopharmacology
2025

Deciphering Gut Microbiome Dynamics in Irritable Bowel Syndrome Using Deep Learning.

Neurogastroenterology and motility
2025

Neurogastroenterology: Current insights into gastrointestinal innervation in health and disease.

Autonomic neuroscience : basic &amp; clinical
2025

Harmonizing gut microbiota dysbiosis: Unveiling the influence of diet and lifestyle interventions.

Metabolism open
2025

A Novel CHRM3-Driven Preclinical Model of Irritable Bowel Syndrome.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

PDE4 inhibitor apremilast ameliorates TNBS-induced irritable bowel syndrome in mice by activating the Nrf-2 signaling pathway in enteric glial cells.

Acta pharmacologica Sinica
2025

Sleep Disturbances, Fatigue and Immune Markers in the Irritable Bowel Syndrome and Inflammatory Bowel Disease, a Systematic Review.

Neurogastroenterology and motility
2025

Resistant Starch and Microbiota-Derived Secondary Metabolites: A Focus on Postbiotic Pathways in Gut Health and Irritable Bowel Syndrome.

International journal of molecular sciences
2025

Hidradenitis suppurativa: state-of-the-art review and update.

Dermatology reports
2025

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

Internal medicine (Tokyo, Japan)
2025

More than the Lesion: Unraveling the Complexities of Endometriosis-Associated Pain.

Seminars in reproductive medicine
2025

Integrating gene expression, neurochemical signatures, and neurocognitive profiles to decode cortical reorganization in IBS-D.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2025

The evolution of irritable bowel syndrome as a group of organic diseases: a narrative review.

Expert review of gastroenterology &amp; hepatology
2025

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

Frontiers in cellular and infection microbiology
2025

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

Seminars in arthritis and rheumatism
2025

The intricate interactions between the lungs and gut in patients: unraveling the crosstalk mechanism.

Frontiers in medicine
2025

Multi-organ pathology in a small porcine model of cytokine storm syndrome characteristics.

Frontiers in immunology
2025

Effect 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 research
2025

Functional and internalizing disorders co-aggregate with cardiometabolic and immune-related diseases within families: a population-based cohort study.

BMC medicine
2025

Functional Design Considerations for Developing a Gut Health Application to Prevent LOH Syndrome.

Studies in health technology and informatics
2025

Longitudinal single-cell analysis of glucagon-like peptide-2 treatment in patients with short bowel syndrome.

JCI insight
2025

Coeliac disease and microbiota: is it time for personalised biotics intervention? A scoping review.

BMJ nutrition, prevention &amp; health
2026

Altered peripheral CRY1 gene expression may contribute to both organic and functional gastrointestinal disease.

Experimental physiology
2026

Low 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.

Gastroenterology
2025

Neoadjuvant immunotherapy for nonmetastatic dMMR/MSI colon cancer: a real-world retrospective AGEO study.

ESMO open
2025

Glucokinase activators contribute to gastrointestinal disease risks through metabolic-immune interplay in the gut-liver axis: insights from a multi-omics study.

Acta diabetologica
2025

Probiotic-derived postbiotics: a perspective on next-generation therapeutics.

Frontiers in nutrition
2025

Based on Proteomics Data Revealing the Potential of Traditional Chinese Medicine in Treating Irritable Bowel Syndrome.

Mediators of inflammation
2025

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

International journal of nanomedicine
2025

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

Medicina (Kaunas, Lithuania)
2025

Maternal emulsifier consumption alters the offspring early-life microbiota and goblet cell function leading to long-lasting diseases susceptibility.

Nature communications
2025

Rewiring the Brain Through the Gut: Insights into Microbiota-Nervous System Interactions.

Current issues in molecular biology
2025

Exploring vaccine safety and adverse events in major autoimmune diseases.

Autoimmunity reviews
2025

Effect 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 &amp; hepatology
2025

The hidden genetic and microbial networks connecting neuropsychiatric and digestive disorders.

Computational and structural biotechnology journal

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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

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Doenças 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.

  1. Fecal microbiota transplantation in murine models of colitis and short bowel syndrome: lessons learned, limitations, and translational perspectives.
    Minerva gastroenterology· 2026· PMID 41854281mais citado
  2. From Gut to Metabolism: Exploring the Intersection of Inflammatory Bowel Disease and Systemic Metabolic Dysfunction.
    Journal of clinical gastroenterology· 2026· PMID 41805835mais citado
  3. Are we missing early pancreatic dysfunction? Expanding faecal elastase testing beyond pancreatic disease.
    Current opinion in gastroenterology· 2026· PMID 41782402mais citado
  4. Metabotherapy for intestinal disease: using metabolites to prevent and treat disorders of the gut.
    Nature reviews. Gastroenterology &amp; hepatology· 2026· PMID 41772119mais citado
  5. Possible Crosstalk Between Small Intestinal Bacterial Overgrowth (SIBO) and Atopic Manifestations-A Short Overview.
    International journal of molecular sciences· 2026· PMID 41752000mais citado
  6. Mast cell mediators in hereditary angioedema.
    Orphanet J Rare Dis· 2026· PMID 41832580recente
  7. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    Int J Mol Sci· 2026· PMID 41828453recente
  8. Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
    Orphanet J Rare Dis· 2026· PMID 41827036recente
  9. 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.
    Orphanet J Rare Dis· 2026· PMID 41821052recente
  10. Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
    Orphanet J Rare Dis· 2026· PMID 41821046recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:529977(Orphanet)
  2. MONDO:0033968(MONDO)
  3. GARD:22204(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Compêndio · Raras BR

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

ORPHA:529977 · MONDO:0033968
Prevalência
<1 / 1 000 000
Casos
7 casos conhecidos
Herança
Autosomal recessive
CID-10
D89.8 · Outros transtornos especificados que comprometem o mecanismo imunitário não classificados em outra parte
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5568533
Repurposing
3 candidatos
aminosalicylatecyclooxygenase inhibitor
chloroxineopioid receptor antagonist
mesalazinecyclooxygenase inhibitor|lipoxygenase inhibitor|prostanoid receptor antagonist
Wikidata
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