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Published on: June 8, 2022
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency
Martina Girardelli1, Serena Arrigo2, Arrigo Barabino3
1Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy. martina.girardelli@burlo.trieste.it.
Insights
Very early onset inflammatory bowel disease (VEO-IBD) can be caused by genetic immune defects. Prompt genetic diagnosis and hematopoietic stem cell transplantation (HSCT) offer effective treatment for VEO-IBD.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Very early onset inflammatory bowel disease (VEO-IBD) often presents aggressively and resists treatment.
- Monogenic immune defects are an identifiable cause of some VEO-IBD cases.
- Hematopoietic stem cell transplantation (HSCT) can be curative for specific VEO-IBD subtypes.
Observation:
- A male infant experienced macrophage activation syndrome, intractable colitis, fever, and splenomegaly within months of birth.
- Extensive immunological and genetic testing was performed.
- A colectomy was attempted before genetic analysis identified a mutation in XIAP.
Findings:
- The patient was diagnosed with X-linked inhibitor of apoptosis protein (XIAP) deficiency, a primary immune deficiency.
- Genetic confirmation of XIAP deficiency guided curative treatment.
- Hematopoietic stem cell transplantation (HSCT) successfully treated the patient's condition.
Implications:
- Increased awareness of monogenic immune defects is crucial for diagnosing VEO-IBD.
- Comprehensive genetic analysis enables timely diagnosis and appropriate treatment selection.
- Early diagnosis prevents ineffective and potentially harmful interventions, improving patient outcomes.
Background:
Aggressive 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.
Conclusion:
Our 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.
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