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Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis. | LitMetric
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Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis.

Donald C Vinh Brian Schwartz Amy P Hsu David J Miranda Patricia A Valdez Danielle Fink Karen P Lau Debra Long-Priel Douglas B Kuhns Gulbu Uzel Stefania Pittaluga Susan Hoover John N Galgiani Steven M Holland

Clin Infect Dis

Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

Published: February 2011

Severe disseminated is rare while localized, contained disease is common. We report a family with disseminated coccidioidomycosis due to a novel homozygous C186Y mutation in interleukin (IL)-12 receptor β1. This family confirms the centrality of the IL-12/IFN-γ axis to human immunity to spp.

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 Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060907PMC
http://dx.doi.org/10.1093/cid/ciq215DOI Listing

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