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

Martina Girardelli, Serena Arrigo, Arrigo Barabino, Claudia Loganes, Giuseppe Morreale, Sergio Crovella, Alberto Tommasini, Anna M onica Bianco

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)208
Number of pages1
JournalBMC Pediatrics
Publication statusPublished - 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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