The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.
Open accessAbstract
Interferon-gamma receptor ligand-binding chain (IFN-gammaR1) or signaling chain (IFN-gammaR2) deficiency, like interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency, predispose to severe infections due to poorly virulent mycobacteria and salmonella. A child with bacille Calmette-Guérin and Salmonella enteritidis infection was investigated. Mutations in the genes for IFN-gammaR1, IFN-gammaR2, IL-12Rbeta1, and other molecules implicated in IL-12- or IFN-gamma-mediated immunity were sought. A large homozygous deletion within the IL-12 p40 subunit gene was found, precluding expression of functional IL-12 p70 cytokine by activated dendritic cells and phagocytes. As a result, IFN-gamma production by lymphocytes was markedly impaired. This is the first discovered human disease resulting from a cytokine gene defect. It suggests that IL-12 is essential to and appears specific for protective immunity to intracellular bacteria such as mycobacteria and salmonella.
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Cites
Dorman, S. E., & Holland, S. M. (1998) · Journal of Clinical Investigation · doi:10.1172/jci2901 · Cited by 429
Cited by
Cargill, M., Schrodi, S. J., Chang, M., Garcia, V. E., Brandon, R., Callis, K. P., Matsunami, N., Ardlie, K. G., Civello, D., Catanese, J. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/511051 · Cited by 1,086
Human macrophage activation programs induced by bacterial pathogens
Nau, G. J., Richmond, J. F. L., Schlesinger, A., Jennings, E. G., Lander, E. S., & Young, R. A. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.022649799 · Cited by 568
Interferon-γ and interleukin-12 pathway defects and human disease
Dorman, S. E., & Holland, S. M. (2000) · Cytokine & Growth Factor Reviews · doi:10.1016/s1359-6101(00)00010-1 · Cited by 336
Wilkinson, R. J., Patel, P., Llewelyn, M., Hirsch, C. S., Pasvol, G., Snounou, G., Davidson, R. N., & Toossi, Z. (1999) · The Journal of Experimental Medicine · doi:10.1084/jem.189.12.1863 · Cited by 295
Metadata
- Authors
- Altare, F., Lammas, D., Revy, P., Jouanguy, E., Döffinger, R., Lamhamedi, S., Drysdale, P., Scheel-Toellner, D., Girdlestone, J., Darbyshire, P., Wadhwa, M., Dockrell, H., Salmon, M., Fischer, A., Durandy, A., Casanova, J. L., & Kumararatne, D. S.
- Venue
- Journal of Clinical Investigation
- Published
- 1998-12-15
- Volume
- 102
- Issue
- 12
- Pages
- 2035-2040
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2066609936
- Cited by
- 413
- References
- 1
- FWCI
- 10.27
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Altare, F., Lammas, D., Revy, P., Jouanguy, E., Döffinger, R., Lamhamedi, S., Drysdale, P., Scheel-Toellner, D., Girdlestone, J., Darbyshire, P., Wadhwa, M., Dockrell, H., Salmon, M., Fischer, A., Durandy, A., Casanova, J. L., & Kumararatne, D. S. (1998). Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection. Journal of Clinical Investigation. https://doi.org/10.1172/jci4950
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