(Public Library of Science, 2013) Bojarski, Emeric F.; Strauss, Adam C.; Fagin, Adam Peter; Plantinga, Theo S.; Hoischen, Alexander; Veltman, Joris; Allsop, Stephen A.; Granadillo, Victor J. Anciano; William, Arsani; Netea, Mihai G.; Dimitrakoff, Jordan
A 44-year-old man is presented here with 14 years of chronic purulent sinusitis, a chronic fungal rash of the scrotum, and chronic pelvic pain. Treatment with antifungal therapy resulted in symptom improvement, however he was unable to establish an effective long-term treatment regimen, resulting in debilitating symptoms. He had undergone extensive work-up without identifying a clear underlying etiology, although Candida species were cultured from the prostatic fluid. 100 genes involved in the cellular immune response were sequenced and a missense mutation was identified in the Ras-binding domain of PI3Kγ. PI3Kγ is a crucial signaling element in leukotaxis and other leukocyte functions. We hypothesize that his mutation led to his chronic infections and pelvic pain.
