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31.07.2019 | Original Article

Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China

verfasst von: Wenjing Ying, Danru Liu, Xiaolong Dong, Wenjie Wang, Xiaoying Hui, Jia Hou, Haili Yao, Qinhua Zhou, Bijun Sun, Jinqiao Sun, Xiaochuan Wang

Erschienen in: Journal of Clinical Immunology | Ausgabe 6/2019

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Abstract

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-Guérin (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-γ 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-γ therapy is effective in patients with MSMD, particularly improving prognosis in those with IL12RB1 deficiency.

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Titel: Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China
verfasst von: Wenjing Ying
Danru Liu
Xiaolong Dong
Wenjie Wang
Xiaoying Hui
Jia Hou
Haili Yao
Qinhua Zhou
Bijun Sun
Jinqiao Sun
Xiaochuan Wang
Publikationsdatum: 31.07.2019
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 6/2019
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00672-x

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Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China

Abstract

Purpose

Methods

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Conclusion

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