Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Very-Early Onset Chronic Active Colitis with Heterozygous Variants in LRBA1 and CARD11, a Case of "Immune TOR-Opathies".

Fetal and pediatric pathology - 1 Apr 2023

He Mai, Wong Amanda, Sutton Kimberly, Gondim Mercia Jeanne Bezerra, Samson Charles

Abstract excerpt

BACKGROUND: A small subset of cases of inflammatory bowel disease (IBD) occurs as a result of single gene defects, and typically occurs in young or very young pediatric patients, referred to as "monogenic very-early onset IBD (VEO-IBD)". The gene variants leading to monogenic VEO-IBD are often associated with primary immunodeficiency syndromes. CASE REPORT: A six year-old girl presented to our gastroenterology...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CARD Signaling Adaptor Proteins

Share to Child, Preschool

Share to Colitis

Share to Guanylate Cyclase

Share to Heterozygote

Share to Inflammatory Bowel Diseases

Source

Identifiers

PMID: 35748740
DOI: 10.1080/15513815.2022.2088912

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Very-Early Onset Chronic Active Colitis with Heterozygous Variants in LRBA1 and CARD11, a Case of "Immune TOR-Opathies".PMID 35748740Read ↗

The Growing Need to Understand Very Early Onset Inflammatory Bowel Disease.Semantic proximity Read ↗

Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.Semantic proximity Read ↗

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.Semantic proximity Read ↗

The role of monogenic disease in children with very early onset inflammatory bowel disease.Semantic proximity Read ↗

Evaluation of very early-onset inflammatory bowel disease.Semantic proximity Read ↗

Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.Semantic proximity Read ↗

The diagnostic approach to monogenic very early onset inflammatory bowel disease.Semantic proximity Read ↗

Understanding endoscopic and clinicopathological features of patients with very early onset inflammatory bowel disease: Results from a decade of study.Semantic proximity Read ↗

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.Semantic proximity Read ↗

Genomic and Immunologic Drivers of Very Early-Onset Inflammatory Bowel DiseaseSemantic proximity Read ↗

Very Early Onset-IBD: evidence for the need of a multidisciplinary approach.Semantic proximity Read ↗

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.