Introdução
O que você precisa saber de cara
Doença inflamatória intestinal rara em crianças, autossômica recessiva, causada por mutações no gene IL21. Manifesta-se com inflamação intestinal, infecções recorrentes, fadiga, déficit de crescimento e alterações nos linfócitos B e T.
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
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.
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.
Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). Implicated in the generation and maintenance of T follicular helper (Tfh) cells and the formation of germinal-centers. Together with IL6, control the early generation of Tfh cells and are critical for an effective antibody response to acute viral infection (By similarity). May play a role in proliferation and maturation
Secreted
Immunodeficiency, common variable, 11
A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.
Variantes genéticas (ClinVar)
27 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada 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 — Doença inflamatória do intestino da infância IL21-relacionada
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
Reshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper.
Children with inflammatory bowel diseases (IBD) have limited access to the available advanced therapies, given the lengthy gap between adult and pediatric approval. We aimed to review key hurdles for pediatric trials and recommend practical solutions. This position paper was developed jointly by the European and North American Societies for Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN and NASPGHAN), in consultation with patient representatives. A systematic review was performed for identified topics, and two voting rounds with two group meetings led to agreement on 24 statements. The systematic review (reviewing 4366 manuscripts, of which 123 were included in tables of evidence and 213 in support of 23 statements) found similar biologic pathogenesis, and similar or better effectiveness and safety in children older than 2 years compared to adults. Pharmacokinetics were similar in adolescents but dissimilar in younger children. The review also found sufficiently accurate noninvasive endpoints to reflect post-induction treatment response. There was no significant added benefit for ileocolonoscopy over sigmoidoscopy in ulcerative colitis. Drugs should be approved in children >12 years and ≥40 kg based on extrapolation from adult and real-world data. While efficacy may be extrapolated to children <40 kg, pharmacokinetics cannot and thus one open-label single-arm study should be performed to establish a dose that matches adult exposure-response from the adult trial in which adolescents may be enrolled if not exposed to placebo. Full colonoscopies should be minimized in the pediatric dosing trial. Efficacy in patients with infantile IBD cannot be extrapolated from adult data.
Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.
Tricho-hepato-enteric syndrome (THES) is a rare genetic disorder characterized by early-onset intractable diarrhea, intrauterine growth retardation, hair abnormalities, and liver disease during early infancy. THES is often associated with combined immunodeficiency caused by defective interferon-γ production in T cells and hypogammaglobulinemia. However, very few cases of a severe clinical course in infancy have been reported. Here, we report the case of a 2-month-old boy who presented with intractable diarrhea, growth retardation, and hair anomaly. Although fasting and central venous nutrition reduced stool frequency, effective weight gain was not achieved. A colonoscopy revealed multiple irregular ulcers without any cytomegalovirus (CMV)-positive cells. Nevertheless, CMV was detected in peripheral blood using a polymerase chain reaction, and the patient was initially treated with ganciclovir. However, this approach was not clinically effective. The second endoscopy revealed new colonic ulcers with mild active inflammation, and treatment with prednisolone was partially effective. The Immunological evaluation revealed no impaired findings, except for low blastogenesis in T cells. However, the patient developed severe progressive respiratory failure caused by superinfection with Pneumocystis jirovecii and CMV and died at 6 months of age. Clinical sequencing analysis identified compound heterozygous frameshift variants c.195dupA (p.A66Sfs*3) and c.3426dupA (p.A1143Sfs*4) in TTC37 (NM_014639.4), confirming the diagnosis of THES. THES can have a fatal clinical course even during infancy. Detailed immunological and genetic analyses, in addition to endoscopic examination, are crucial for the definitive diagnosis and management of patients with very early-onset inflammatory bowel disease and inborn errors of immunity with systemic features.
Sport Activities for Children and Adolescents: Part 2. Joint Position Statement of Paediatric Societies on Physical Activity and Sport Recommendations for Children With Specific Chronic Disease Conditions.
To provide consensus-based recommendations on safe and effective physical activity and sports participation for children and adolescents with chronic health conditions. The Task Force of the European Academy of Pediatrics (EAP) reviewed English-language meta-analyses, systematic reviews, randomised clinical trials and observational studies published between 2000 and 2024 in major databases (Scopus, PubMed/MEDLINE, Cochrane Library, Science Direct, MEDLINE and EBSCO). Evidence from scientific organisations, including the WHO, was also considered. Recommendations were developed through expert consensus. The position statement provides tailored guidelines for children with juvenile idiopathic arthritis, congenital osteoarticular and musculoskeletal defects, haemophilia, asthma, cystic fibrosis, diabetes, sickle cell trait, hypertension, nephrotic syndrome, inflammatory bowel disease, epilepsy, a history of severe allergic reactions and reduced nephron number. Practical recommendations are summarised for each condition. This consensus statement offers a structured, evidence-based framework for healthcare professionals, parents and caregivers to promote safe physical activity and sport participation in pediatric populations with chronic diseases, thereby supporting quality of life and long-term health outcomes.
Correction: The role of confocal laser endomicroscopy in pediatric gastrointestinal diseases: a narrative review.
[This corrects the article DOI: 10.3389/fped.2025.1681649.].
An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.
Inflammasomes, particularly NLRC4, play crucial roles in immune responses to intracellular bacterial infections. However, gain-of-function mutations in NLRC4 are linked to severe autoinflammatory diseases, including autoinflammation with infantile enterocolitis (AIFEC). AIFEC patients who survive infancy typically have no further intestinal symptoms but retain susceptibility to macrophage activation syndrome (MAS). However, existing mouse models do not adequately replicate the inflammation observed in AIFEC patients. To better understand this, we developed a mouse model capable of conditional expression of the activating V341A mutation in NLRC4 (NLRC4-V341A KI). Global conversion to NLRC4-V341A at the germline resulted in symptoms closely mirroring those of human AIFEC, including severe infantile enterocolitis characterized by heightened intestinal inflammation, disrupted gut epithelium, compromised intestinal barrier integrity, severe diarrhea, and mortality within 10 days post-natally. Additionally, they displayed systemic autoinflammation marked by elevated levels of IL-1β, IL-18, and IL-6, alongside cytopenia and hemophagocytosis. In contrast, conditional conversion to NLRC4-V341A in adulthood caused systemic autoinflammation with only mild enterocolitis, mirroring AIFEC patients. Using this model, we demonstrated that IL-18 and TNF blockade effectively ameliorated AIFEC disease symptoms. Unexpectedly, glucose supplementation has emerged as a promising therapeutic strategy. These findings advance our understanding of AIFEC and illuminate the ways in which inflammasome activation contributes to very early onset inflammatory bowel disease (VEO-IBD) in the developing gut.
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 139
Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.
Frontiers in immunologyReshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper.
Journal of pediatric gastroenterology and nutritionIdentification of Novel IL-10RA Variant in Infantile-Onset Inflammatory Bowel Disease: A Case Series With Preliminary Genotype-Phenotype Correlation From Two Chinese Families.
Case reports in medicineAn animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.
Cellular & molecular immunologyThe role of confocal laser endomicroscopy in pediatric gastrointestinal diseases: a narrative review.
Frontiers in pediatricsMusculoskeletal manifestations in children with inflammatory bowel disease: a multicenter cohort study (GASTROREUM study).
Pediatric rheumatology online journalSport Activities for Children and Adolescents: Part 2. Joint Position Statement of Paediatric Societies on Physical Activity and Sport Recommendations for Children With Specific Chronic Disease Conditions.
Acta paediatrica (Oslo, Norway : 1992)[Colonoscopy in infants: procedure and disease spectrum analysis of 184 cases].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsLong-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET).
EClinicalMedicineComprehensive evaluation of clinical phenotypes and pathogenic features in late-onset monogenic inflammatory bowel disease: a comparative study with infantile-onset cases.
BMC gastroenterologyImmunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.
The Journal of experimental medicineA severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.
The Journal of dermatologyDiscovery and Total Synthesis of Anhydrotuberosin as a STING Antagonist for Treating Autoimmune Diseases.
Angewandte Chemie (International ed. in English)Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectInhibition of intestinal inflammation and fibrosis by Scutellaria Baicalensis georgi and Boswellia serrata in human epithelial cells and fibroblasts.
Immunity, inflammation and diseasePARP1 inactivation increases regulatory T / Th17 cell proportion in intestinal inflammation. Role of HMGB1.
Immunology lettersNeutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease.
The New England journal of medicineInfantile and Very Early Onset Inflammatory Bowel Disease: A Multicenter Study.
PediatricsNovel infantile presentations of chronic granulomatous disease.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyCharacterization of patient-derived intestinal organoids for modelling fibrosis in Inflammatory Bowel Disease.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.
Clinical and experimental immunologyVery Early Onset of Fistulizing Inflammatory Bowel Disease With RIPK1 Mutation: A Case Report.
CureusPan-enteric Capsule Endoscopy to Characterize Crohn's Disease Phenotypes and Predict Clinical Outcomes in Children and Adults: The Bomiro Study.
Inflammatory bowel diseasesInfantile inflammatory bowel disease in three Syrian infants: a case series.
Journal of medical case reports[Clinical features and genetic analysis of three patients with Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome due to variants of FOXP3 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA novel biallelic 19-bp deletion in the IL10RB gene caused infant-onset inflammatory bowel disease in a consanguineous family: a molecular docking simulation study and literature review.
Molecular biology reportsClinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
Arthritis & rheumatology (Hoboken, N.J.)Intractable diarrhea in infancy and molecular analysis: We are beyond the tip of the iceberg.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverThe Benefit of Early and Frequent Antitumor Necrosis Factor-Alpha Trough Level Determination in Very Early-Onset Inflammatory Bowel Disease.
ACG case reports journalDose escalation of adalimumab as a strategy to overcome anti-drug antibodies: A case report of infantile-onset inflammatory bowel disease.
World journal of gastroenterology[Calprotectin levels in meconium measured with an automated immunoassay (Liaison® XL)].
Annales de biologie cliniqueA case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.
Pediatric dermatologyLong term outcomes in children with trichohepatoenteric syndrome.
American journal of medical genetics. Part ALactobacillus reuteri in digestive system diseases: focus on clinical trials and mechanisms.
Frontiers in cellular and infection microbiologyA Case of Paradoxical Arthralgia Following Anti-TNF Monoclonal Antibody Administration in a Patient With New-Onset Pediatric Crohn's Disease.
JPGN reportsPARP1 Activation Induces HMGB1 Secretion Promoting Intestinal Inflammation in Mice and Human Intestinal Organoids.
International journal of molecular sciencesInfantile-onset inflammatory bowel disease has variable long-term outcomes.
Frontiers in pediatricsPeroral Endoscopic Myotomy for Infantile Esophageal Achalasia: The First Case Treated With an Ultrathin Endoscope.
The American journal of gastroenterologyCase report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease.
Frontiers in immunologyRIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.
Frontiers in immunologyIncidence, Management, and Outcomes of Very Early Onset Inflammatory Bowel Diseases and Infantile-Onset Disease: An Epi-IIRN Study.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationProbiotics and gastrointestinal diseases.
Minerva pediatricsCanakinumab for the treatment of autoinflammatory very early onset- inflammatory bowel disease.
Frontiers in immunologyZNF281 Promotes Colon Fibroblast Activation in TGFβ1-Induced Gut Fibrosis.
International journal of molecular sciencesEpCAM Is Essential to Maintaining the Immune Homeostasis of Intestines via Keeping the Expression of pIgR in the Intestinal Epithelium of Mice.
Frontiers in immunologyClinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.
Journal of Crohn's & colitisClinical Spectrum of Monogenic Infantile-Onset Inflammatory Bowel Disease.
Indian journal of pediatricsClinical outcome of infantile-onset inflammatory bowel disease in 102 patients with interleukin-10 signalling deficiency.
Alimentary pharmacology & therapeutics[Effects of oral vitamin D3 supplementation in Crohn's disease patients: Modulation of clinical active/remission phases by pro-inflammatory cytokines profile and oxidative stress].
Annales de biologie cliniqueAntibiotic exposure and adverse long-term health outcomes in children: A systematic review and meta-analysis.
The Journal of infectionGenetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.
Bioinformatics and biology insights[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations].
Annales de pathologieA Rare Cause of Rectovaginal Fistula in Early Infancy: It is in the Genes!
Journal of Indian Association of Pediatric SurgeonsHistopathology of intestinal villi in neonatal and paediatric age: main features with clinical correlation - Part II.
PathologicaEstablishment of human induced pluripotent stem cell line (SDQLCHi040-A) from a patient with Infantile-onset inflammatory bowel disease carrying a homozygous mutation in IL10RA gene.
Stem cell researchHuman AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease.
Cellular and molecular gastroenterology and hepatologyA case of infective colitis due to Yersinia enterocolitica complicated by microliver abscesses mimicking multiple liver occult metastases: a case report.
BMC infectious diseasesImportance of early detection of infantile inflammatory bowel disease with defective IL-10 pathway: A case report.
MedicineAssociation of Immune Thrombocytopenia and Inflammatory Bowel Disease in Children.
Journal of clinical medicineVariants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Journal of Crohn's & colitisEarly life antibiotics and childhood gastrointestinal disorders: a systematic review.
BMJ paediatrics openThe Use of Fecal Calprotectin Testing in Paediatric Disorders: A Position Paper of the European Society for Paediatric Gastroenterology and Nutrition Gastroenterology Committee.
Journal of pediatric gastroenterology and nutritionHomozygous IL37 mutation associated with infantile inflammatory bowel disease.
Proceedings of the National Academy of Sciences of the United States of AmericaInfantile Inflammatory Bowel Disease in a Three-Month-Old-Boy.
CureusValuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.
World journal of gastroenterologyA Case of a Two-Month-Old Boy Diagnosed with Infantile Crohn's Disease Based on an Atypical Perianal Lesion.
Case reports in pediatricsNovel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.
Human genome variationClinical Features and Outcomes of Very-Early-Onset Inflammatory Bowel Disease in Brazilian Children.
JPGN reportsClinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition.
Journal of pediatric gastroenterology and nutritionBiologics During Pregnancy in Women With Inflammatory Bowel Disease and Risk of Infantile Infections: A Systematic Review and Meta-Analysis.
The American journal of gastroenterologyWD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease.
Journal of pediatric gastroenterology and nutritionPredictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.
Journal of pediatric gastroenterology and nutritionThe First Case of an Infant with Familial A20 Haploinsufficiency in Korea.
Journal of Korean medical scienceAn RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Journal of clinical immunologyTherapeutic Drug Monitoring-guided High-dose Infliximab for Infantile-onset Inflammatory Bowel Disease: A Case Series.
Journal of pediatric gastroenterology and nutritionClinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
Immunological investigations[Infantile onset inflammatory bowel disease in a child caused by heterozygous mutation of TNFAIP3].
Zhonghua er ke za zhi = Chinese journal of pediatricsA Multicenter Prospective Survey on Early-Onset Inflammatory Bowel Disease in Japan.
DigestionIntestinal Inflammation Alters the Expression of Hepatic Bile Acid Receptors Causing Liver Impairment.
Journal of pediatric gastroenterology and nutritionGenetics on early onset inflammatory bowel disease: An update.
Genes & diseasesAlterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD.
Frontiers in immunologyLoss of IL-10 signaling in macrophages limits bacterial killing driven by prostaglandin E2.
The Journal of experimental medicineDiagnostic Challenges in the Early Onset of Inflammatory Bowel Disease: A Case Report.
International journal of molecular and cellular medicineInfections and malignancies risks related to TNF-α-blocking agents in pediatric inflammatory bowel diseases.
Expert review of gastroenterology & hepatologyCurrent concepts in pediatric inflammatory bowel disease; IL10/IL10R colitis as a model disease.
International journal of pediatrics & adolescent medicine[Clinical and genotypic characteristics of infantile inflammatory bowel disease].
Zhonghua er ke za zhi = Chinese journal of pediatricsPerianal Abscesses in Infants Are Not Associated With Crohn's Disease in a Surgical Cohort.
Journal of Crohn's & colitisCandidiasis associated with very early onset inflammatory bowel disease: First IL10RB deficient case from the National Iranian Registry and review of the literature.
Clinical immunology (Orlando, Fla.)A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
Journal of clinical immunologyThe Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula.
Archives of rheumatologyRecent Advance in Very Early Onset Inflammatory Bowel Disease.
Pediatric gastroenterology, hepatology & nutritionInfantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.
BMC gastroenterologyRecent advance in very early-onset inflammatory bowel disease.
Intestinal researchDietary modifications for infantile colic.
The Cochrane database of systematic reviewsPhenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.
Inflammatory bowel diseasesCompound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.
European journal of gastroenterology & hepatologyEarly-onset paediatric inflammatory bowel disease.
The Lancet. Child & adolescent healthStudy of disease phenotype and its association with prognosis of paediatric inflammatory bowel disease in China.
BMC pediatricsChronic sequelae and severe complications of norovirus infection: A systematic review of literature.
Journal of clinical virology : the official publication of the Pan American Society for Clinical VirologyInfantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).
Inflammatory bowel diseasesHematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement?
Journal of pediatric hematology/oncologyAdvances in Evaluation of Chronic Diarrhea in Infants.
GastroenterologyNOD2 and inflammation: current insights.
Journal of inflammation researchHuman TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Nature geneticsFetal and early life antibiotics exposure and very early onset inflammatory bowel disease: a population-based study.
GutGut microbiota in early life and its influence on health and disease: A position paper by the Malaysian Working Group on Gastrointestinal Health.
Journal of paediatrics and child healthMissense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
European journal of medical geneticsPhenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.
Inflammatory bowel diseasesEnhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.
Inflammatory bowel diseasesVery early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children.
European journal of medical geneticsRIP3 AND pMLKL promote necroptosis-induced inflammation and alter membrane permeability in intestinal epithelial cells.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver[Single center retrospective study of 184 children with inflammatory bowel disease seen from 2000-2014].
Zhonghua er ke za zhi = Chinese journal of pediatricsDevelopment and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor.
Journal of pediatric gastroenterology and nutritionAn Overview of Inflammatory Bowel Disease: General Consideration and Genetic Screening Approach in Diagnosis of Early Onset Subsets.
Middle East journal of digestive diseasesInterleukin-10 receptor mutation presenting with severe nappy ulceration and infantile inflammatory bowel disease.
Clinical and experimental dermatologyNovel de Novo Mutations of the Interleukin-10 Receptor Gene Lead to Infantile Onset Inflammatory Bowel Disease: A Correction.
Journal of Crohn's & colitisAnkyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
The Journal of biological chemistryTreatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.
Frontiers in immunologyHematopoietic Stem Cell Transplantation in Crohn's Disease: State-of-the-Art Treatment.
Digestive diseases (Basel, Switzerland)Variable outcome in infantile-onset inflammatory bowel disease in an Asian cohort.
World journal of gastroenterologyIBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.
Journal of pediatric gastroenterology and nutritionElucidating the Role of the Interleukin-10 Receptor in Mucosal Inflammation Uncovers a Potential Treatment for Infantile Inflammatory Bowel Disease.
GastroenterologyFecal HMGB1 Reveals Microscopic Inflammation in Adult and Pediatric Patients with Inflammatory Bowel Disease in Clinical and Endoscopic Remission.
Inflammatory bowel diseasesLarge B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease.
Journal of pediatric gastroenterology and nutritionNOD2 induces autophagy to control AIEC bacteria infectiveness in intestinal epithelial cells.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
Journal of Crohn's & colitisClinical Pattern of Early-Onset Inflammatory Bowel Disease in Saudi Arabia: A Multicenter National Study.
Inflammatory bowel diseasesMedical Comorbidities in Pediatric Headache.
Seminars in pediatric neurologyIdentifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.
Medicine[Maternal Crohn's disease-related vitamin B12 deficient megaloblastic anemia in an infant].
[Rinsho ketsueki] The Japanese journal of clinical hematologyDifference between early onset and late-onset pediatric ulcerative colitis.
Pediatrics international : official journal of the Japan Pediatric SocietyNovel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.
BMC gastroenterologyEffects of enteral polymeric diet on gut microbiota in children with Crohn's disease.
GutNOD2 Is Regulated By Mir-320 in Physiological Conditions but this Control Is Altered in Inflamed Tissues of Patients with Inflammatory Bowel Disease.
Inflammatory bowel diseasesIs Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?
Gut and liverThe association of autoimmune diseases with pediatric ulcerative colitis does not influence its disease course.
Scandinavian journal of gastroenterologyVery early-onset inflammatory bowel disease: gaining insight through focused discovery.
Inflammatory bowel diseasesThe use of probiotics in pediatric gastroenterology: a review of the literature and recommendations by Latin-American experts.
Paediatric drugsCurrent issues of pediatric inflammatory bowel disease in Korea.
Korean journal of pediatricsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença inflamatória do intestino da infância IL21-relacionada.
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 Doença inflamatória do intestino da infância IL21-relacionada
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Reshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper.
- Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.
- Sport Activities for Children and Adolescents: Part 2. Joint Position Statement of Paediatric Societies on Physical Activity and Sport Recommendations for Children With Specific Chronic Disease Conditions.
- Correction: The role of confocal laser endomicroscopy in pediatric gastrointestinal diseases: a narrative review.
- An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.
- 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:477661(Orphanet)
- OMIM OMIM:615767(OMIM)
- MONDO:0014338(MONDO)
- GARD:17852(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q32144571(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