Journal
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
Volume 55, Issue 3, Pages 184-204Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/10408363.2018.1444580
Keywords
Mycobacteria; intracellular pathogens; interferon gamma; primary immunodeficiency; diagnosis; MSMD
Categories
Funding
- Plan Nacional de I+D+I
- ISCIII - Subdireccion General de Evaluacion y Fomento de la Investigacion Sanitaria
- Fondo Europeo de Desarrollo Regional (FEDER) [PI12/01990, PI15/01094, PI13/00676, PI13/01456, PI16/00759]
- National Institute of Allergy and Infectious Diseases of the National Institutes of Health [R01AI089970, R37AI095983, UL1TR001866]
- National Center for Research Resources of the National Institutes of Health [UL1TR001866]
- National Center for Advancing Sciences of the National Institutes of Health [UL1TR001866]
- Rockefeller University
- St. Giles Foundation
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Paris Descartes University
- Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence [ANR-10-LABX-62-IBEID]
- French National Research Agency (ANR) under the Investments for the Future program [ANR-10-IAHU-01]
- SRC
- Fondation du Souffle et du Fonds de Recherche en Sante Respiratoire
- European Molecular Biology Organization (EMBO)
- [ANR-14-CE15-006-01]
- NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES [UL1TR001866, UL1TR000043] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [R37AI095983, R01AI089970] Funding Source: NIH RePORTER
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The integrity of the interferon (IFN)-gamma 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-gamma 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-Guerin) 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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