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

• Principais autores: Jiamei Tang (Autor), Xiaoying Zhou (Autor), Lan Wang (Autor), Guorui Hu (Autor), Bixia Zheng (Autor), Chunli Wang (Autor), Yan Lu (Autor), Yu Jin (Autor), Hongmei Guo (Autor), Zhifeng Liu (Autor)
• Formato: Livro
• Publicado em: BMC, 2020-04-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...