Novel PI3Kγ Mutation in a 44-Year-Old Man with Chronic Infections and Chronic Pelvic Pain
Bojarski, Emeric F.
Strauss, Adam C.
Plantinga, Theo S.
Allsop, Stephen A.
Granadillo, Victor J. Anciano
Netea, Mihai G.
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CitationBojarski, E. F., A. C. Strauss, A. P. Fagin, T. S. Plantinga, A. Hoischen, J. Veltman, S. A. Allsop, et al. 2013. “Novel PI3Kγ Mutation in a 44-Year-Old Man with Chronic Infections and Chronic Pelvic Pain.” PLoS ONE 8 (7): e68118. doi:10.1371/journal.pone.0068118. http://dx.doi.org/10.1371/journal.pone.0068118.
AbstractA 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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