XIAP Deficiency in Refractory Crohn´s Disease: A Case Report in Brazil

Vivian Regina Guzela

doi:10.19080/argh.2019.12.555853

Abstract

XIAP Deficiency in Refractory Crohn´s Disease: A Case Report in Brazil

Highlights

A case report to highlight the association between refractory Crohns disease and X-linked inhibitor apoptosis protein deficiency syndrome, a rare genetic disease that occurs in males
Severe refractory Crohn’s disease presents an important complementary diagnosis: X-Linked Inhibitor of Apoptosis (XIAP) deficiency. It should be mainly considered in male patients with a history of severe infections and lymphoproliferative syndrome
Another important factor that contributes to the development of the disease is the loss of the intestinal mucosal immune system homeostasis attributed to the defects of the epithelial barrier and the apoptosis of the T lymphocytes

Summary

Conclusion

Severe refractory Crohn’s disease presents an important complementary diagnosis: XIAP deficiency. It should be mainly considered in male patients with a history of severe infections and lymphoproliferative syndrome.

Introduction

Discussion

Findings

Ethics Approval and Consent to Participate

Availability of Data and Materials