ArticleJournal of clinical immunology2019
Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.
Article in Journal of clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 3 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.Frontiers in immunology · 2021Pooled it
- Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms.Clinical reviews in allergy & immunology · 2026Review
- Adult Onset of MSMD Caused by IL-12Rβ1 Variants: Report of a Young Woman with NTM Infection Lacking Bacille Calmette-Guérin (BCG)-induced Diseases.Journal of clinical immunology · 2026Article
- Characteristics of Mycobacterial, COVID-19, and Talaromyces Marneffei Infections in Patients with IL12RB1 and IFNGR1 Mutations in Western China.Journal of clinical immunology · 2026Article
- Characterization of the epidemiology, susceptibility genes and clinical features of viral infections among children with inborn immune errors: a retrospective study.Virology journal · 2025Article
- Interferon Gamma in Sickness Predisposing toBalkan medical journal · 2024Review
- Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.Journal of clinical immunology · 2024Article
- Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection.Journal of clinical immunology · 2023Article
- Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.Clinical and experimental immunology · 2023Review
- Fibrosing mediastinitis in a child with Mendelian susceptibility to mycobacterial disease possibly due to Bacillus Calmette-Guérin.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian Susceptibility to Mycobacterial Disease (MSMD): a case series.Annals of clinical microbiology and antimicrobials · 2022Article
- A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.Frontiers in cellular and infection microbiology · 2022Article
- Case Report: DisseminatedFrontiers in pediatrics · 2022Article
- Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.Journal of clinical immunology · 2021Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAlthough 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.
methodsThis 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.
resultsThirty 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.
conclusionMSMD 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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