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BMC Pediatrics
Published in: BMC Pediatrics 1/2015

Open Access 01-12-2015 | Case report

The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency

Authors: Martina Girardelli, Serena Arrigo, Arrigo Barabino, Claudia Loganes, Giuseppe Morreale, Sergio Crovella, Alberto Tommasini, Anna Monica Bianco

Published in: BMC Pediatrics | Issue 1/2015

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Abstract

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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Metadata
Title
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency
Authors
Martina Girardelli
Serena Arrigo
Arrigo Barabino
Claudia Loganes
Giuseppe Morreale
Sergio Crovella
Alberto Tommasini
Anna Monica Bianco
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2015
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-015-0522-5

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