Ontology highlight
ABSTRACT:
SUBMITTER: Tang J
PROVIDER: S-EPMC7165398 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Tang Jiamei J Zhou Xiaoying X Wang Lan L Hu Guorui G Zheng Bixia B Wang Chunli C Lu Yan Y Jin Yu Y Guo Hongmei H Liu Zhifeng Z
BMC pediatrics 20200418 1
<h4>Background</h4>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).<h4>Case presentation</h4>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 c ...[more]