Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection - PubMed (original) (raw)

Case Reports

. 1998 Dec 15;102(12):2035-40.

doi: 10.1172/JCI4950.

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, J L Casanova, D S Kumararatne

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Case Reports

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

F Altare et al. J Clin Invest. 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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References

    1. Lancet. 1995 Jan 14;345(8942):79-83 - PubMed
    1. Int J Mol Med. 1998 Feb;1(2):415-8 - PubMed
    1. Annu Rev Immunol. 1995;13:251-76 - PubMed
    1. Lancet. 1995 Aug 26;346(8974):581 - PubMed
    1. Immunity. 1996 May;4(5):471-81 - PubMed

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