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



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.


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.


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.


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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Many thanks to the patients and their parents who were involved in this study.


This study was supported by the National Natural Science Foundation of China (81172877, 81373221, 81471482) and Children’s Hospital of Fudan University Funding (EK1125180110, EK112520180202).

Author information




Dr. Ying participated in study design, collected data, performed data analyses, drafted the manuscript, and incorporated revisions, and takes responsibility for the manuscript as a whole.

Prof Wang and Prof Sun conceptualized and designed the study, supervised data collection, and reviewed and revised the manuscript.

Dr. Liu and Dr. Dong support technical and material experiment and performed the statistical analysis.

Dr. Wang, Dr. Hou, Dr. Yao, Dr. Hui, Dr. Zhou, and Dr. Sun collected data and reviewed and revised the manuscript.

All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding authors

Correspondence to Jinqiao Sun or Xiaochuan Wang.

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Ying, W., Liu, D., Dong, X. et al. Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China. J Clin Immunol 39, 600–610 (2019).

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  • Mycobacterium infection
  • immunodeficiency
  • IFN-gamma
  • interleukin-12 receptor beta 1 subunit
  • therapy