Raras
Buscar doenças, sintomas, genes...
Doença inflamatória do intestino da infância IL21-relacionada
ORPHA:477661CID-10 · D84.8CID-11 · DD7YOMIM 615767DOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

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

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
3
pacientes catalogados
Início
Infancy
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D84.8
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

🫃
Digestivo
2 sintomas
📏
Crescimento
2 sintomas
🦴
Ossos e articulações
1 sintomas
🫁
Pulmão
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

100%prev.
Inflamação do intestino grosso
Obrigatório (100%)
100%prev.
Proporção diminuída de linfócitos B de memória com troca de classe
Obrigatório (100%)
100%prev.
Fadiga
Obrigatório (100%)
100%prev.
Déficit de crescimento
Obrigatório (100%)
100%prev.
Baqueteamento dos dedos
Obrigatório (100%)
100%prev.
Diarreia mucoide
Obrigatório (100%)
15sintomas
Muito frequente (13)
Muito raro (1)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.

Inflamação do intestino grossoInflammation of the large intestine
Obrigatório (100%)100%
Proporção diminuída de linfócitos B de memória com troca de classeDecreased class-switched memory B cell proportion
Obrigatório (100%)100%
FadigaFatigue
Obrigatório (100%)100%
Déficit de crescimentoFailure to thrive
Obrigatório (100%)100%
Baqueteamento dos dedosClubbing of fingers
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos140publicações
Pico202120 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

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

IL21Interleukin-21Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Interleukin-21 signaling
MECANISMO DE DOENÇA

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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
1.4 TPM
OUTRAS DOENÇAS (1)
IL21-related infantile inflammatory bowel disease
HGNC:6005UniProt:Q9HBE4

Variantes genéticas (ClinVar)

27 variantes patogênicas registradas no ClinVar.

🧬 IL21: GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 ()
🧬 IL21: GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 ()
🧬 IL21: GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 ()
🧬 IL21: GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 ()
🧬 IL21: GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 3 variantes classificadas pelo ClinVar.

1
1
1
Patogênica (33.3%)
VUS (33.3%)
Benigna (33.3%)
VARIANTES MAIS SIGNIFICATIVAS
IL21: NM_021803.4(IL21):c.146T>C (p.Leu49Pro) [Pathogenic]
IL21: NM_021803.4(IL21):c.119G>A (p.Arg40His) [Uncertain significance]
IL21: NM_021803.4(IL21):c.234C>T (p.Cys78=) [Benign]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — 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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Reshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper.

Journal of pediatric gastroenterology and nutrition2026 Mar

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.

#2

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

Frontiers in immunology2026

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.

#3

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.

Acta paediatrica (Oslo, Norway : 1992)2026 Jan

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.

#4

Correction: The role of confocal laser endomicroscopy in pediatric gastrointestinal diseases: a narrative review.

Frontiers in pediatrics2025

[This corrects the article DOI: 10.3389/fped.2025.1681649.].

#5

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

Cellular &amp; molecular immunology2025 Dec

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

Ver todas no PubMed

📚 EuropePMCmostrando 139

2026

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

Frontiers in immunology
2026

Reshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper.

Journal of pediatric gastroenterology and nutrition
2025

Identification 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 medicine
2025

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

Cellular &amp; molecular immunology
2025

The role of confocal laser endomicroscopy in pediatric gastrointestinal diseases: a narrative review.

Frontiers in pediatrics
2025

Musculoskeletal manifestations in children with inflammatory bowel disease: a multicenter cohort study (GASTROREUM study).

Pediatric rheumatology online journal
2026

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.

Acta paediatrica (Oslo, Norway : 1992)
2025

[Colonoscopy in infants: procedure and disease spectrum analysis of 184 cases].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

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

EClinicalMedicine
2025

Comprehensive evaluation of clinical phenotypes and pathogenic features in late-onset monogenic inflammatory bowel disease: a comparative study with infantile-onset cases.

BMC gastroenterology
2025

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

The Journal of experimental medicine
2025

A 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 dermatology
2025

Discovery and Total Synthesis of Anhydrotuberosin as a STING Antagonist for Treating Autoimmune Diseases.

Angewandte Chemie (International ed. in English)
2024

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

Allergologie select
2024

Inhibition of intestinal inflammation and fibrosis by Scutellaria Baicalensis georgi and Boswellia serrata in human epithelial cells and fibroblasts.

Immunity, inflammation and disease
2024

PARP1 inactivation increases regulatory T / Th17 cell proportion in intestinal inflammation. Role of HMGB1.

Immunology letters
2024

Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease.

The New England journal of medicine
2024

Infantile and Very Early Onset Inflammatory Bowel Disease: A Multicenter Study.

Pediatrics
2024

Novel infantile presentations of chronic granulomatous disease.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2024

Characterization of patient-derived intestinal organoids for modelling fibrosis in Inflammatory Bowel Disease.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2024

Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.

Clinical and experimental immunology
2024

Very Early Onset of Fistulizing Inflammatory Bowel Disease With RIPK1 Mutation: A Case Report.

Cureus
2025

Pan-enteric Capsule Endoscopy to Characterize Crohn's Disease Phenotypes and Predict Clinical Outcomes in Children and Adults: The Bomiro Study.

Inflammatory bowel diseases
2024

Infantile inflammatory bowel disease in three Syrian infants: a case series.

Journal of medical case reports
2024

[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 genetics
2024

A 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 reports
2024

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2024

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 Liver
2023

The Benefit of Early and Frequent Antitumor Necrosis Factor-Alpha Trough Level Determination in Very Early-Onset Inflammatory Bowel Disease.

ACG case reports journal
2023

Dose escalation of adalimumab as a strategy to overcome anti-drug antibodies: A case report of infantile-onset inflammatory bowel disease.

World journal of gastroenterology
2023

[Calprotectin levels in meconium measured with an automated immunoassay (Liaison® XL)].

Annales de biologie clinique
2024

A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.

Pediatric dermatology
2024

Long term outcomes in children with trichohepatoenteric syndrome.

American journal of medical genetics. Part A
2023

Lactobacillus reuteri in digestive system diseases: focus on clinical trials and mechanisms.

Frontiers in cellular and infection microbiology
2023

A Case of Paradoxical Arthralgia Following Anti-TNF Monoclonal Antibody Administration in a Patient With New-Onset Pediatric Crohn's Disease.

JPGN reports
2023

PARP1 Activation Induces HMGB1 Secretion Promoting Intestinal Inflammation in Mice and Human Intestinal Organoids.

International journal of molecular sciences
2023

Infantile-onset inflammatory bowel disease has variable long-term outcomes.

Frontiers in pediatrics
2023

Peroral Endoscopic Myotomy for Infantile Esophageal Achalasia: The First Case Treated With an Ultrathin Endoscope.

The American journal of gastroenterology
2022

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease.

Frontiers in immunology
2022

RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.

Frontiers in immunology
2023

Incidence, 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 Association
2022

Probiotics and gastrointestinal diseases.

Minerva pediatrics
2022

Canakinumab for the treatment of autoinflammatory very early onset- inflammatory bowel disease.

Frontiers in immunology
2022

ZNF281 Promotes Colon Fibroblast Activation in TGFβ1-Induced Gut Fibrosis.

International journal of molecular sciences
2022

EpCAM Is Essential to Maintaining the Immune Homeostasis of Intestines via Keeping the Expression of pIgR in the Intestinal Epithelium of Mice.

Frontiers in immunology
2022

Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.

Journal of Crohn's &amp; colitis
2022

Clinical Spectrum of Monogenic Infantile-Onset Inflammatory Bowel Disease.

Indian journal of pediatrics
2022

Clinical outcome of infantile-onset inflammatory bowel disease in 102 patients with interleukin-10 signalling deficiency.

Alimentary pharmacology &amp; therapeutics
2022

[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 clinique
2022

Antibiotic exposure and adverse long-term health outcomes in children: A systematic review and meta-analysis.

The Journal of infection
2021

Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Bioinformatics and biology insights
2022

[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations].

Annales de pathologie
2021

A Rare Cause of Rectovaginal Fistula in Early Infancy: It is in the Genes!

Journal of Indian Association of Pediatric Surgeons
2022

Histopathology of intestinal villi in neonatal and paediatric age: main features with clinical correlation - Part II.

Pathologica
2021

Establishment 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 research
2021

Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease.

Cellular and molecular gastroenterology and hepatology
2021

A case of infective colitis due to Yersinia enterocolitica complicated by microliver abscesses mimicking multiple liver occult metastases: a case report.

BMC infectious diseases
2021

Importance of early detection of infantile inflammatory bowel disease with defective IL-10 pathway: A case report.

Medicine
2021

Association of Immune Thrombocytopenia and Inflammatory Bowel Disease in Children.

Journal of clinical medicine
2021

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Journal of Crohn's &amp; colitis
2021

Early life antibiotics and childhood gastrointestinal disorders: a systematic review.

BMJ paediatrics open
2021

The 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 nutrition
2021

Homozygous IL37 mutation associated with infantile inflammatory bowel disease.

Proceedings of the National Academy of Sciences of the United States of America
2021

Infantile Inflammatory Bowel Disease in a Three-Month-Old-Boy.

Cureus
2021

Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.

World journal of gastroenterology
2020

A Case of a Two-Month-Old Boy Diagnosed with Infantile Crohn's Disease Based on an Atypical Perianal Lesion.

Case reports in pediatrics
2021

Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.

Human genome variation
2021

Clinical Features and Outcomes of Very-Early-Onset Inflammatory Bowel Disease in Brazilian Children.

JPGN reports
2021

Clinical 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 nutrition
2021

Biologics During Pregnancy in Women With Inflammatory Bowel Disease and Risk of Infantile Infections: A Systematic Review and Meta-Analysis.

The American journal of gastroenterology
2020

WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease.

Journal of pediatric gastroenterology and nutrition
2021

Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.

Journal of pediatric gastroenterology and nutrition
2020

The First Case of an Infant with Familial A20 Haploinsufficiency in Korea.

Journal of Korean medical science
2020

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.

Journal of clinical immunology
2020

Therapeutic Drug Monitoring-guided High-dose Infliximab for Infantile-onset Inflammatory Bowel Disease: A Case Series.

Journal of pediatric gastroenterology and nutrition
2021

Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).

Immunological investigations
2020

[Infantile onset inflammatory bowel disease in a child caused by heterozygous mutation of TNFAIP3].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2021

A Multicenter Prospective Survey on Early-Onset Inflammatory Bowel Disease in Japan.

Digestion
2020

Intestinal Inflammation Alters the Expression of Hepatic Bile Acid Receptors Causing Liver Impairment.

Journal of pediatric gastroenterology and nutrition
2020

Genetics on early onset inflammatory bowel disease: An update.

Genes &amp; diseases
2020

Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD.

Frontiers in immunology
2020

Loss of IL-10 signaling in macrophages limits bacterial killing driven by prostaglandin E2.

The Journal of experimental medicine
2018

Diagnostic Challenges in the Early Onset of Inflammatory Bowel Disease: A Case Report.

International journal of molecular and cellular medicine
2019

Infections and malignancies risks related to TNF-α-blocking agents in pediatric inflammatory bowel diseases.

Expert review of gastroenterology &amp; hepatology
2019

Current concepts in pediatric inflammatory bowel disease; IL10/IL10R colitis as a model disease.

International journal of pediatrics &amp; adolescent medicine
2019

[Clinical and genotypic characteristics of infantile inflammatory bowel disease].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2020

Perianal Abscesses in Infants Are Not Associated With Crohn's Disease in a Surgical Cohort.

Journal of Crohn's &amp; colitis
2019

Candidiasis 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.)
2019

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.

Journal of clinical immunology
2018

The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula.

Archives of rheumatology
2019

Recent Advance in Very Early Onset Inflammatory Bowel Disease.

Pediatric gastroenterology, hepatology &amp; nutrition
2019

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.

BMC gastroenterology
2019

Recent advance in very early-onset inflammatory bowel disease.

Intestinal research
2018

Dietary modifications for infantile colic.

The Cochrane database of systematic reviews
2019

Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.

Inflammatory bowel diseases
2018

Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.

European journal of gastroenterology &amp; hepatology
2017

Early-onset paediatric inflammatory bowel disease.

The Lancet. Child &amp; adolescent health
2018

Study of disease phenotype and its association with prognosis of paediatric inflammatory bowel disease in China.

BMC pediatrics
2018

Chronic 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 Virology
2018

Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).

Inflammatory bowel diseases
2019

Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement?

Journal of pediatric hematology/oncology
2018

Advances in Evaluation of Chronic Diarrhea in Infants.

Gastroenterology
2018

NOD2 and inflammation: current insights.

Journal of inflammation research
2018

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.

Nature genetics
2019

Fetal and early life antibiotics exposure and very early onset inflammatory bowel disease: a population-based study.

Gut
2017

Gut 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 health
2018

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

European journal of medical genetics
2017

Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.

Inflammatory bowel diseases
2017

Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.

Inflammatory bowel diseases
2017

Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children.

European journal of medical genetics
2017

RIP3 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
2017

[Single center retrospective study of 184 children with inflammatory bowel disease seen from 2000-2014].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2017

Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor.

Journal of pediatric gastroenterology and nutrition
2017

An Overview of Inflammatory Bowel Disease: General Consideration and Genetic Screening Approach in Diagnosis of Early Onset Subsets.

Middle East journal of digestive diseases
2017

Interleukin-10 receptor mutation presenting with severe nappy ulceration and infantile inflammatory bowel disease.

Clinical and experimental dermatology
2017

Novel de Novo Mutations of the Interleukin-10 Receptor Gene Lead to Infantile Onset Inflammatory Bowel Disease: A Correction.

Journal of Crohn's &amp; colitis
2017

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.

The Journal of biological chemistry
2017

Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.

Frontiers in immunology
2017

Hematopoietic Stem Cell Transplantation in Crohn's Disease: State-of-the-Art Treatment.

Digestive diseases (Basel, Switzerland)
2016

Variable outcome in infantile-onset inflammatory bowel disease in an Asian cohort.

World journal of gastroenterology
2017

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.

Journal of pediatric gastroenterology and nutrition
2016

Elucidating the Role of the Interleukin-10 Receptor in Mucosal Inflammation Uncovers a Potential Treatment for Infantile Inflammatory Bowel Disease.

Gastroenterology
2016

Fecal HMGB1 Reveals Microscopic Inflammation in Adult and Pediatric Patients with Inflammatory Bowel Disease in Clinical and Endoscopic Remission.

Inflammatory bowel diseases
2016

Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease.

Journal of pediatric gastroenterology and nutrition
2016

NOD2 induces autophagy to control AIEC bacteria infectiveness in intestinal epithelial cells.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2017

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.

Journal of Crohn's &amp; colitis
2016

Clinical Pattern of Early-Onset Inflammatory Bowel Disease in Saudi Arabia: A Multicenter National Study.

Inflammatory bowel diseases
2016

Medical Comorbidities in Pediatric Headache.

Seminars in pediatric neurology
2016

Identifying 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
2016

[Maternal Crohn's disease-related vitamin B12 deficient megaloblastic anemia in an infant].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2016

Difference between early onset and late-onset pediatric ulcerative colitis.

Pediatrics international : official journal of the Japan Pediatric Society
2016

Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.

BMC gastroenterology
2017

Effects of enteral polymeric diet on gut microbiota in children with Crohn's disease.

Gut
2016

NOD2 Is Regulated By Mir-320 in Physiological Conditions but this Control Is Altered in Inflamed Tissues of Patients with Inflammatory Bowel Disease.

Inflammatory bowel diseases
2015

Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?

Gut and liver
2016

The association of autoimmune diseases with pediatric ulcerative colitis does not influence its disease course.

Scandinavian journal of gastroenterology
2015

Very early-onset inflammatory bowel disease: gaining insight through focused discovery.

Inflammatory bowel diseases
2015

The use of probiotics in pediatric gastroenterology: a review of the literature and recommendations by Latin-American experts.

Paediatric drugs
2014

Current issues of pediatric inflammatory bowel disease in Korea.

Korean journal of pediatrics

Associações

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

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 login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Reshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper.
    Journal of pediatric gastroenterology and nutrition· 2026· PMID 41476385mais citado
  2. Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.
    Frontiers in immunology· 2026· PMID 41756285mais citado
  3. 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.
    Acta paediatrica (Oslo, Norway : 1992)· 2026· PMID 40995775mais citado
  4. Correction: The role of confocal laser endomicroscopy in pediatric gastrointestinal diseases: a narrative review.
    Frontiers in pediatrics· 2025· PMID 41230449mais citado
  5. An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.
    Cellular &amp; molecular immunology· 2025· PMID 41116055mais 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:477661(Orphanet)
  2. OMIM OMIM:615767(OMIM)
  3. MONDO:0014338(MONDO)
  4. GARD:17852(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Compêndio · Raras BR

Doença inflamatória do intestino da infância IL21-relacionada

ORPHA:477661 · MONDO:0014338
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal recessive
CID-10
D84.8 · Outras imunodeficiências especificadas
CID-11
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2676507
Repurposing
3 candidatos
aminosalicylatecyclooxygenase inhibitor
chloroxineopioid receptor antagonist
mesalazinecyclooxygenase inhibitor|lipoxygenase inhibitor|prostanoid receptor antagonist
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades