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01-12-2020 | Langerhans Cell Histiocytosis | Case report

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

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

Published in: BMC Pediatrics | Issue 1/2020

Abstract

Background

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 only curative treatment is haematopoietic stem cell transplant (HSCT).

Case presentation

Here, 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.

Conclusion

We 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.

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Title: Eosinophilic colitis in a boy with a novel XIAP mutation: a case report
Authors: Jiamei Tang
Xiaoying Zhou
Lan Wang
Guorui Hu
Bixia Zheng
Chunli Wang
Yan Lu
Yu Jin
Hongmei Guo
Zhifeng Liu
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Langerhans Cell Histiocytosis
Chronic Inflammatory Bowel Disease
Epstein-Barr Virus
Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis
Published in: BMC Pediatrics / Issue 1/2020
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-020-02075-z

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Background

Case presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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