Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis

Clin Infect Dis. 2011 Feb 15;52(4):e99-e102. doi: 10.1093/cid/ciq215.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution / genetics
  • Coccidioidomycosis / diagnosis*
  • Coccidioidomycosis / genetics*
  • Coccidioidomycosis / immunology
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Receptors, Interleukin-12 / deficiency*
  • Receptors, Interleukin-12 / genetics

Substances

  • IL12RB1 protein, human
  • Receptors, Interleukin-12