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PLoS One. 2013 Jul 8;8(7):e68118. doi: 10.1371/journal.pone.0068118. Print 2013.

Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain.

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Harvard Medical School, Boston, Massachusetts, USA.


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.

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