Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 21258095.
- Also identified by DOI 10.1093/cid/ciq215 and PMC identifier 3060907.
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Abstract
Severe disseminated <i>Coccidioides</i> 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 <i>Coccidioides</i> spp.
Medical subject headings
- Coccidioidomycosis
- Mutation, Missense
- Receptors, Interleukin-12