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Article

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

BMC pediatrics - 18 Apr 2020

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

Abstract excerpt

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...

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Identifiers

PMID: 32305064
DOI: 10.1186/s12887-020-02075-z
PMCID: PMC7165398

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