ReviewCritical reviews in clinical laboratory sciences2018
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Review in Critical reviews in clinical laboratory sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled 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
- Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India.Journal of human immunity · 2026Article
- Age-Related Patterns of Type II Interferon Immunity: Implications for Intramacrophagic Infections and MSMD Diagnosis During Childhood.Journal of clinical immunology · 2025Article
- Clinical recommendations for diagnosis and management of Mendelian susceptibility to mycobacterial disease in resource-limited settings.The journal of allergy and clinical immunology. Global · 2025Article
- Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.Journal of clinical immunology · 2024Article
- Challenges of Diagnosing Mendelian Susceptibility to Mycobacterial Diseases in South Africa.International journal of molecular sciences · 2023Review
- Article
- Autosomal recessiveFrontiers in immunology · 2023Article
- Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.Journal of clinical immunology · 2022Article
- Sarcoid-like lesions obfuscating the diagnosis of disseminated Mycobacterium genavense infection in a patient with IL-12Rβ1-associated immunodeficiency.BMC infectious diseases · 2022Article
- Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa.BMC immunology · 2021Article
- Successful Isavuconazole Salvage Therapy for a Cryptococcus deuterogattii (AFLP6/VGII) Disseminated Infection in a European Immunocompetent Patient.Mycopathologia · 2021Article
- Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.Journal of immunology (Baltimore, Md. : 1950) · 2021Article
- Pulmonary granulomatosis of genetic origin.European respiratory review : an official journal of the European Respiratory Society · 2021Review
- Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.Frontiers in immunology · 2021Article
- Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.Frontiers in immunology · 2021Article
- Inherited human IFN-γ deficiency underlies mycobacterial disease.The Journal of clinical investigation · 2020Article
- Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic.Case reports in immunology · 2020Article
- Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature.Journal of clinical immunology · 2019Review
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
The integrity of the interferon (IFN)-γ circuit is necessary to mount an effective immune response to intra-macrophagic pathogens, especially Mycobacteria. Inherited monogenic defects in this circuit that disrupt the production of, or response to, IFN-γ underlie a primary immunodeficiency known as Mendelian susceptibility to mycobacterial disease (MSMD). Otherwise healthy patients display a selective susceptibility to clinical disease caused by poorly virulent mycobacteria such as BCG (bacille Calmette-Guérin) vaccines and environmental mycobacteria, and more rarely by other intra-macrophagic pathogens, particularly Salmonella and M. tuberculosis. There is high genetic and allelic heterogeneity, with 19 genetic etiologies due to mutations in 10 genes that account for only about half of the patients reported. An efficient laboratory diagnostic approach to suspected MSMD patients is important, because it enables the establishment of specific therapeutic measures that will improve the patient's prognosis and quality of life. Moreover, it is essential to offer genetic counseling to affected families. Herein, we review the various genetic and immunological diagnostic approaches that can be used in concert to reach a molecular and cellular diagnosis in patients with MSMD.
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