ArticleJournal of pediatric gastroenterology and nutrition2019
Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.
Article in Journal of pediatric gastroenterology and nutrition, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Targeted therapies and their outcomes in monogenic very early onset inflammatory bowel disease: a systematic review.BMC gastroenterology · 2026Pooled it
- HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.Frontiers in immunology · 2024Pooled it
- Anti-TNF-refractory inflammatory bowel disease associated with a novel XIAP frameshift variant successfully treated with ustekinumab.Clinical journal of gastroenterology · 2026Article
- Relationship between Epstein-Barr virus and inflammatory bowel disease.World journal of gastroenterology · 2025Review
- Special Considerations in Pediatric Inflammatory Bowel Disease Pathology.Diagnostics (Basel, Switzerland) · 2025Review
- De Novo Crohn's Disease Diagnosed in the Setting of Acute SARS-Cov-2 Infection Requiring Escalation of Infliximab Therapy Guided by Personalized Pharmacokinetics.Journal of pediatrics, perinatology and child health · 2024Article
- Hematopoietic stem cell Transplantation in Children with very Early Onset Inflammatory Bowel Disease Secondary to Monogenic Disorders of immune-dysregulation.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2023Article
- Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases.Pharmaceutics · 2023Review
- Hyperinflammation, apoptosis, and organ damage.Experimental biology and medicine (Maywood, N.J.) · 2022Review
- Linking Genetic Diagnosis to Therapeutic Approach in Very Early Onset Inflammatory Bowel Disease: Pharmacologic Considerations.Paediatric drugs · 2022Review
- New Insights and Advances in Pathogenesis and Treatment of Very Early Onset Inflammatory Bowel Disease.Frontiers in pediatrics · 2022Review
- Delayed Diagnosis of X-linked Lymphoproliferative Syndrome Type 2 in a 17-year-old Male With Severe Crohn's Disease and Recurrent Skin Infections.JPGN reports · 2021Article
- Metabolic Host-Microbiota Interactions in Autophagy and the Pathogenesis of Inflammatory Bowel Disease (IBD).Pharmaceuticals (Basel, Switzerland) · 2021Review
- Targeting RIP Kinases in Chronic Inflammatory Disease.Biomolecules · 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
- Advanced Understanding of Monogenic Inflammatory Bowel Disease.Frontiers in pediatrics · 2020Review
- Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries.Frontiers in immunology · 2019Review
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Authors and funding
11 authors at 8 institutions in 2 countries.
Funding
Abstract
Very early onset inflammatory bowel disease (VEO-IBD) represents a diagnostic and treatment challenge. Here we present a case of VEO-IBD secondary to a mutation in BIRC4 gene, which encodes X-linked inhibitor of apoptosis protein (XIAP), in a 17-month-old boy with severe failure to thrive, intractable diarrhea, and hepatosplenomegaly. Endoscopy and histology identified only mild duodenitis and ileitis, but severe pancolitis with crypt abscesses and epithelium apoptosis. Minimal improvement in symptoms was achieved with total parenteral nutrition (TPN), intravenous (IV) corticosteroids, and tacrolimus, whereas induction and maintenance therapy with adalimumab led to complete remission. After 6 months, the patient developed hemophagocytic lymphohistiocytosis and eventually died due to multisystem organ failure. A review of the literature revealed that some patients with VEO-IBD secondary to XIAP deficiency develop symptoms that are refractory to medical and surgical management, while initial reports suggest that allogeneic hematopoietic stem cell transplantation (HSCT), with reduced intensity conditioning, can successfully induce long-lasting remission and may even be curative. We propose that in patients with XIAP deficiency a constellation of symptoms including colitis at an early age, severe failure to thrive, and splenomegaly/hepatosplenomegaly can identify a subgroup of patients at high risk of experiencing medically refractory IBD phenotype and increased mortality. Hematopoietic stem cell transplant should be considered early in these high-risk patients, as it may resolve both their intestinal inflammation and a risk of developing life threatening hemophagocytic lymphohistiocytosis .
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