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Research Article Free access | 10.1172/JCI4950

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.

F Altare, D Lammas, P Revy, E Jouanguy, R Döffinger, S Lamhamedi, P Drysdale, D Scheel-Toellner, J Girdlestone, P Darbyshire, M Wadhwa, H Dockrell, M Salmon, A Fischer, A Durandy, Jean-Laurent Casanova, and D S Kumararatne

INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.

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First published December 15, 1998 - More info

Published in Volume 102, Issue 12 (December 15, 1998)
J Clin Invest. 1998;102(12):2035–2040. doi:10.1172/JCI4950.
Copyright © 1998, The American Society for Clinical Investigation.

Published December 15, 1998
Abstract

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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