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PEDIATRICS Vol. 107 No. 4 April 2001, p. e48

ELECTRONIC ARTICLE:
High Levels of Interferon Gamma in the Plasma of Children With Complete Interferon Gamma Receptor Deficiency

Received Oct 25, 2000; accepted Jan 8, 2001.

Claire Fieschi*, Stéphanie Dupuis*, Capucine Picard*, C. I. Edvard SmithDagger , Steven M. Holland§, and Jean-Laurent Casanova*, parallel

From the * Laboratory of Human Genetics of Infectious Diseases, Necker Medical School, Paris, France, European Union (EU); Dagger  Karolinska Institute, Huddinge, Sweden, EU; § Laboratory of Host Defense, National Institutes of Health, Bethesda, Maryland; and parallel  Pediatric Immunology Unit, Necker-Enfants Malades Hospital, Paris, France, EU.

We have found that children with complete interferon gamma (IFNgamma ) receptor deficiency, unlike patients with other genetic defects predisposing them to mycobacterial diseases, have very high levels of IFNgamma in their plasma. This unexpected observation provides a simple and accurate diagnostic method for complete IFNgamma receptor deficiency in children with clinical disease caused by bacille Calmette-Guérin vaccines or environmental nontuberculous mycobacteria.

 Key words:  interferon gamma, mycobacteria, genetic susceptibility, immunodeficiency, plasma.


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