期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 39, 期 6, 页码 600-610出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-019-00672-x
关键词
Mycobacterium infection; immunodeficiency; IFN-gamma; interleukin-12 receptor beta 1 subunit; therapy
类别
资金
- National Natural Science Foundation of China [81172877, 81373221, 81471482]
- Children's Hospital of Fudan University [EK1125180110, EK112520180202]
Purpose Although many studies have investigated Mendelian susceptibility to mycobacterial disease (MSMD) worldwide, there is no report of the long-term clinical management and prognosis for MSMD in China. Methods This is a cohort study from January 2000 to June 2018. Three hundred and twenty-four patients with bacillus Calmette-Guerin (BCG) infection were diagnosed during this period, and those with MSMD diagnosed by genetic and functional experiments were enrolled in the study. The clinical and genetic characteristics and management of these MSMD patients were summarized. Results Thirty patients diagnosed with MSMD were followed up. The age at the follow-up end point ranged from 5 to 173 months. Among the patients, IL12RB1 mutations were identified in 22, IFNGR1 mutations in 5, STAT1 mutations in 2, and IFNGR2 mutation in 1. The medium age at onset was 3 months. BCG infection involved multiple organs, including regional infection (8/30; 26.7%) or distant or disseminated infection (22/30; 73.3%). Ten percent (30/324) of patients with BCG infection had a confirmed MSMD diagnosis. Protein expression of IL12RB1 or IFNGR1 was decreased in all patients with IL12RB1 or IFNGR1 mutation, respectively, as indicated by flow cytometry. In addition, 77.8% of patients received rhIFN-gamma treatment, which can improve the prognosis of patients with IL12RB1 deficiency. Two patients received stem cell transplantation. Twenty-five patients remained alive at the time of publication. Conclusion MSMD is an important cause of BCG infection. Flow cytometric detection of IL12RB1 and IFNGR1 expression is very useful for rapid MSMD diagnosis. rhIFN-gamma therapy is effective in patients with MSMD, particularly improving prognosis in those with IL12RB1 deficiency.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据