X-linked lymphoproliferative syndrome type 2 with inflammatory bowel disease as its clinical phenotype: one case report and literature review
10.3760/cma.j.cn101480-20220105-00006
- VernacularTitle:以炎症性肠病为临床表型的2型X连锁淋巴组织细胞异常增生症一例报道并文献复习
- Author:
Chengcheng HE
1
;
Hejun LI
1
;
Peirong ZHOU
1
;
Wenxing ZHANG
1
;
Jin LI
1
;
Mingsong LI
1
Author Information
1. 广州医科大学附属第三医院消化内科 炎症性肠病中心，广州 510150
- Publication Type:Journal Article
- Keywords:
X-linked lymphoproliferative syndrome type 2;
Gene, X-linked inhibitor of apoptosis protein;
Inflammatory bowel disease;
Genetic testing
- From:
Chinese Journal of Inflammatory Bowel Diseases
2022;06(3):235-239
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical features of X-linked lymphoproliferative syndrome type 2 (XLP-2) , especially the cases with inflammatory bowel disease (IBD) as the clinical phenotype.Methods:The clinical features and the course of diagnosis and treatment of a XLP-2 patient with IBD as the primary phenotype at the Department of Gastroenterology of the Third Affiliated Hospital of Guangzhou Medical University in May 2021 were analyzed retrospectively. Key words of "X-linked lymphoproliferative syndrome type 2" , "X-linked inhibitor of apoptosis protein deficiency" , "hemophagocytic syndrome" were used to retrieve associated literatures in PubMed, CNKI and Wanfang database between January 2006 and October 2021. Associated literatures including the patients diagnosed as the XLP-2 were summarized and reviewed.Results:A total of 90 articles and 215 patients were included. Among them, 207 were males and 8 were females. There were 183 (85.1%) patients with age of diagnosis less than 14 years old. Hemophagocytic syndrome (55.3%, 119/215) , splenomegaly (27.0%, 58/215) and IBD (26.0%, 56/215) were the common clinical phenotypes. There were 56 patients with IBD as the clinical phenotype, including 52 males and 4 females. The average age of onset was 6.4 (0, 31.0) years old, the average age at diagnosis of IBD was 9.1 (0, 31.0) years old and the average age at diagnosis of XLP-2 was 10.8 (0, 41.0) years old. There were 49 of Crohn′s disease, 1 of ulcerative colitis and 6 of IBD unclassified. In the 56 patients with mutation of X-linked inhibitor of apoptosis protein ( XIAP) , nonsense mutations occurred in 26, missense mutations in 22 and deletion mutations in 8. In terms of treatment, 25 patients (44.6%) received hematopoietic stem cell transplantation, 8 (14.3%) received hormones, 11 (19.6%) received immunosuppressants, 27 (48.2%) received biologics, and 18 (32.1%) received 2 or more two biologics. Thirty-five patients were followed up for 8.46 (0.11, 34.00) years, 32 survived and 3 died. Conclusions:XLP-2 is an X chromosome recessive genetic disease, which is common in men and children. IBD is one of the common phenotypes. XLP-2 patients with IBD as phenotype mostly receive multiple drug treatments, and the disease has characteristics of refractory and delayed diagnosis. Early gene detection is of great significance for the differential diagnosis and early treatment of XIAP gene deficiency diseases.
