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


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.

DOI: 10.1186/s12887-015-0522-5

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@inproceedings{Girardelli2015TheDC, title={The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency}, author={Martina Girardelli and Serena Arrigo and Arrigo Vittorio Barabino and Claudia Loganes and Giuseppe Morreale and Sergio Crovella and Alberto Tommasini and Anna Monica Rosaria Bianco}, booktitle={BMC pediatrics}, year={2015} }