Interleukin-12 Receptor 1 Deficiency Predisposing to Disseminated Coccidioidomycosis

Authors:
  • BSBrian Schwartz
    Brian Schwartz
  • DMDavid J. Miranda
    David J. Miranda
  • PVPatricia A. Valdez
    Patricia A. Valdez
  • DFDanielle Fink
    Danielle Fink
  • KLKaren P. Lau
    Karen P. Lau
  • DLDebra Long-Priel
    Debra Long-Priel
  • DKDouglas B. Kuhns
    Douglas B. Kuhns
  • GUGulbu Uzel
    Gulbu Uzel
  • SPStefania Pittaluga
    Stefania Pittaluga
  • SHSusan Hoover
    Susan Hoover
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Abstract
Coccidioidomycosis is caused by the thermally dimorphic molds Coccidioides immitis and Coccidioides posadasii, fungi endemic to the semi-arid regions of the southwestern United States, Mexico, and parts of South America. Symptomatic disease occurs in only approximately one-third of exposed individuals, manifesting primarily as a pneumonic process [ 1]. Disseminated disease is estimated to occur in Coccidioides species, and the ethnic associations suggest significant genetic contributions to coccidioidomycosis susceptibility. We recently described a young man with chronic progressive coccidioidiomycosis and disseminated Mycobacterium kansasii infection who had an 818del4 mutation in IFNGR1, resulting in dominant partial deficiency of the interferon (IFN)–γ receptor [ 3]. We report 2 related patients with disseminated coccidioidomycosis with a novel missense mutation in the β1 subunit of the interleukin (IL)–12 receptor (IL12RB1) C186Y. This confirms the importance of the IL-12/IL-23/IFN-γ pathway in the control of this fungal infection.

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