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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...

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Detalles Bibliográficos
Autores principales: Tang, Jiamei, Zhou, Xiaoying, Wang, Lan, Hu, Guorui, Zheng, Bixia, Wang, Chunli, Lu, Yan, Jin, Yu, Guo, Hongmei, Liu, Zhifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
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