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Microbes Infect. 2000 Nov;2(13):1559-66.

Human deficiencies in type 1 cytokine receptors reveal the essential role of type 1 cytokines in immunity to intracellular bacteria.

Author information

1
Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, Building 1, E3-Q, P.O. Box 9600, 2300 RC, The, Leiden, Netherlands. t.h.m.ottenhoff@lumc.nl

Abstract

Studies on patients with idiopathic, severe infections due to poorly pathogenic mycobacteria and Salmonella have revealed that many of these patients are unable to produce or respond to interferon-gamma (IFN-gamma). This inability results from causative, deleterious genetic mutations in either one of four different genes in the type 1 cytokine cascade, encoding interleukin-12Rbeta1 (IL-12Rbeta1), IL-12p40, IFN-gammaR1 or IFN-gammaR2. The immunological phenotypes resulting from the seven groups of complete or partial deficiencies in type 1 cytokine (receptor) genes that have been distinguished thus far will be summarized and discussed, and placed in a broader context in relation to disease susceptibility.

PMID:
11113375
[Indexed for MEDLINE]

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