Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis.

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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