Tang Jiamei, Zhou Xiaoying, Wang Lan, Hu Guorui, Zheng Bixia, Wang Chunli, Lu Yan, Jin Yu, Guo Hongmei, Liu Zhifeng
Department of Gastroenterology, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
Nanjing Key Laboratory of pediatrics, Children's Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing, Jiangsu Province, 210008, China.
BMC Pediatr. 2020 Apr 18;20(1):171. doi: 10.1186/s12887-020-02075-z.
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).
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 colitis. To identify the underlying disease, we performed exome sequencing, which showed an unreported frameshift mutation in the XIAP gene.
We present eosinophilic colitis as the initial manifestation of XIAP deficiency for the first time in this article, which expands the mutation spectrum and phenotype of this disease.
X连锁凋亡抑制蛋白（XIAP）缺乏症是一种罕见的原发性免疫缺陷疾病，其特征为噬血细胞性淋巴组织细胞增生症、反复脾肿大和炎症性肠病（IBD）。唯一的治愈性治疗方法是造血干细胞移植（HSCT）。
在此，我们报告一例22个月大的男性病例，该患者有长期腹胀和贫血病史。临床和实验室检查结果与嗜酸性粒细胞性结肠炎相符。为了确定潜在疾病，我们进行了外显子组测序，结果显示XIAP基因存在一个未报道的移码突变。
我们在本文中首次将嗜酸性粒细胞性结肠炎作为XIAP缺乏症的初始表现进行报道，这扩大了该疾病的突变谱和表型。
