Eosinophilic colitis in a boy with a novel XIAP mutation: a case report

Jiamei Tang,Lan Wang,Guorui Hu,Yan Lu,Xiaoying Zhou,Zhifeng Liu,Yu Jin,Chunli Wang,Bixia Zheng,Hongmei Guo

doi:10.1186/s12887-020-02075-z

Jiamei Tang, Lan Wang + Show 8 more

Open Access

https://doi.org/10.1186/s12887-020-02075-z

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Abstract

BackgroundX-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease characterized by haemophagocytic lymphohistiocytosis, recurrent splenomegaly and inflammatory bowel disease (IBD). The only curative treatment is haematopoietic stem cell transplant (HSCT).Case presentationHere, we report the case of a 22-month-old male with a long history of abdominal distension and anaemia. Clinical and laboratory findings were consistent with eosinophilic colitis. To identify the underlying disease, we performed exome sequencing, which showed an unreported frameshift mutation in the XIAP gene.ConclusionWe present eosinophilic colitis as the initial manifestation of XIAP deficiency for the first time in this article, which expands the mutation spectrum and phenotype of this disease.

Highlights

X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease characterized by haemophagocytic lymphohistiocytosis, recurrent splenomegaly and inflammatory bowel disease (IBD)
X-linked inhibitor of apoptosis (XIAP) deficiency, known as X-linked lymphoproliferative syndrome type 2 (XLP-2), is a rare inherited disease caused by a gene mutation in XIAP, which is an important inhibitor of programmed cell death or apoptosis by blocking the activation of caspases 3, 7 and 9
The most commom characterization of XIAP deficiency is a key triad of clinical manifestations, including a high susceptibility to developing haemophagocytic lymphohistiocytosis (HLH) frequently triggered by Epstein–Barr virus (EBV) infection, recurrent splenomegaly and inflammatory bowel disease (IBD) with the features of Crohn’s disease

Summary

Introduction

X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease characterized by haemophagocytic lymphohistiocytosis, recurrent splenomegaly and inflammatory bowel disease (IBD). The most commom characterization of XIAP deficiency is a key triad of clinical manifestations, including a high susceptibility to developing haemophagocytic lymphohistiocytosis (HLH) frequently triggered by Epstein–Barr virus (EBV) infection, recurrent splenomegaly and inflammatory bowel disease (IBD) with the features of Crohn’s disease. To the best of our knowledge, the association of eosinophilic colitis with XIAP deficiency has not been reported in any literature to date.

Results

Conclusion