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Eosinophilic colitis in a boy with a novel XIAP mutation: a case report
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...
Autores principales: | Tang, Jiamei, Zhou, Xiaoying, Wang, Lan, Hu, Guorui, Zheng, Bixia, Wang, Chunli, Lu, Yan, Jin, Yu, Guo, Hongmei, Liu, Zhifeng |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7165398/ https://www.ncbi.nlm.nih.gov/pubmed/32305064 http://dx.doi.org/10.1186/s12887-020-02075-z |
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