The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
Open accessAbstract
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does not recapitulate all the clinical features, as patients are also prone to salmonellosis, candidiasis and tuberculosis, and more rarely to infections with other intramacrophagic bacteria, fungi, or parasites, and even, perhaps, a few viruses. Since 1996, nine MSMD-causing genes, including seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-linked (NEMO, CYBB) genes have been discovered. The high level of allelic heterogeneity has already led to the definition of 18 different disorders. The nine gene products are physiologically related, as all are involved in IFN-γ-dependent immunity. These disorders impair the production of (IL12B, IL12RB1, IRF8, ISG15, NEMO) or the response to (IFNGR1, IFNGR2, STAT1, IRF8, CYBB) IFN-γ. These defects account for only about half the known MSMD cases. Patients with MSMD-causing genetic defects may display other infectious diseases, or even remain asymptomatic. Most of these inborn errors do not show complete clinical penetrance for the case-definition phenotype of MSMD. We review here the genetic, immunological, and clinical features of patients with inborn errors of IFN-γ-dependent immunity.
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Cites
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Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity
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Self-citationMycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency
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Self-citationHuman RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
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Cited by
Pai, M., Behr, M. A., Dowdy, D., Dheda, K., Divangahi, M., Boehme, C. C., Ginsberg, A., Swaminathan, S., Spigelman, M., Getahun, H., et al. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.76 · Cited by 1,270
Teng, M. W. L., Bowman, E. P., McElwee, J. J., Smyth, M. J., Casanova, J.-L., Cooper, A. M., & Cua, D. J. (2015) · Nature Medicine · doi:10.1038/nm.3895 · Cited by 873
Self-citationImpairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
Okada, S., Markle, J. G., Deenick, E. K., Mele, F., Averbuch, D., Lagos, M., Alzahrani, M., Al-Muhsen, S., Halwani, R., Ma, C. S., et al. (2015) · Science · doi:10.1126/science.aaa4282 · Cited by 413
Self-citationDedrick, R. M., Smith, B. E., Cristinziano, M., Freeman, K. G., Jacobs-Sera, D., Belessis, Y., Whitney Brown, A., Cohen, K. A., Davidson, R. M., van Duin, D., et al. (2023) · Clinical Infectious Diseases · doi:10.1093/cid/ciac453 · Cited by 344
Heterogeneity of Human CD4 + T Cells Against Microbes
Sallusto, F. (2016) · Annual Review of Immunology · doi:10.1146/annurev-immunol-032414-112056 · Cited by 336
Metadata
- Authors
- Bustamante, J., Boisson-Dupuis, S., Abel, L., & Casanova, J.-L.
- Venue
- Seminars in Immunology
- Publisher
- Elsevier BV
- Published
- 2014-12
- Volume
- 26
- Issue
- 6
- Pages
- 454-470
- ISSN
- 1044-5323 (ISSN-L)
- OpenAlex
- W2075482744
- Cited by
- 684
- References
- 8
- FWCI
- 20.88
- Type
- journal article
- Language
- en
- Open access
- green
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- Bustamante, J., Boisson-Dupuis, S., Abel, L., & Casanova, J.-L. (2014). Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Seminars in Immunology. https://doi.org/10.1016/j.smim.2014.09.008
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