ArticleBMC pediatrics2015
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency.
Article in BMC pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.Frontiers in immunology · 2021Pooled it
- Clinical and genomic features of Iranian patients with very early onset IBD.Pediatric research · 2026Article
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in pediatric Inflammatory Bowel Disease: clinical characteristics and outcomes.European journal of pediatrics · 2024Article
- Aphthous lesions turned out to be neonatal very early-onset inflammatory bowel disease: a case report.Frontiers in pediatrics · 2024Article
- Targeting RIP Kinases in Chronic Inflammatory Disease.Biomolecules · 2021Review
- Inborn Errors of Immunity in the Premature Infant: Challenges in Recognition and Diagnosis.Frontiers in immunology · 2021Review
- Evolution of Our Understanding of XIAP Deficiency.Frontiers in pediatrics · 2021Review
- Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.BMC pediatrics · 2020Article
- North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease.Journal of pediatric gastroenterology and nutrition · 2020Article
- Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.Frontiers in immunology · 2019Review
- The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies.Journal of clinical immunology · 2018Review
- Diagnostic Challenges in the Early Onset of Inflammatory Bowel Disease: A Case Report.International journal of molecular and cellular medicine · 2018Article
- How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAggressive course and resistance to treatments usually characterize very early onset inflammatory bowel disease (VEO-IBD). Some VEO-IBD cases are due to monogenic immune defects and can benefit from hematopoietic stem cell transplantation (HSCT). CASE PRESENTATION: We describe a Caucasian male baby who presented in the first months of life macrophage activation syndrome, followed by intractable colitis, recurrent episodes of fever and mild splenomegaly. After several immunological, genetic and clinical investigations, subsequently a therapeutic attempt with colectomy, analysis of VEO-IBD-associated genes, revealed a causative mutation in XIAP. The genetic diagnosis of a primary immune deficiency allowed curing the boy with hematopoietic stem cell transplantation.
conclusionOur report, together with novel findings from recent literature, should contribute to increase awareness of monogenic immune defects as a cause of VEO-IBD. Comprehensive genetic analysis can allow a prompt diagnosis, resulting in the choice of effective treatments and sparing useless and damaging procedures.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.