Journal Article

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 and Steven M. Holland

in Clinical Infectious Diseases

Published on behalf of Infectious Diseases Society of America

Volume 52, issue 4, pages e99-e102
Published in print February 2011 | ISSN: 1058-4838
Published online February 2011 | e-ISSN: 1537-6591 | DOI: http://dx.doi.org/10.1093/cid/ciq215
Interleukin-12 Receptor β1 Deficiency Predisposing to Disseminated Coccidioidomycosis

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Severe disseminated Coccidioides 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 Coccidioides spp.

Journal Article.  1809 words.  Illustrated.

Subjects: Infectious Diseases ; Immunology ; Public Health and Epidemiology ; Microbiology

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