Novel PI3Kγ Mutation in a 44-Year-Old Man with Chronic Infections and Chronic Pelvic Pain

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Novel PI3Kγ Mutation in a 44-Year-Old Man with Chronic Infections and Chronic Pelvic Pain

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Title: Novel PI3Kγ Mutation in a 44-Year-Old Man with Chronic Infections and Chronic Pelvic Pain
Author: Bojarski, Emeric F.; Strauss, Adam C.; Fagin, Adam P.; Plantinga, Theo S.; Hoischen, Alexander; Veltman, Joris; Allsop, Stephen A.; Granadillo, Victor J. Anciano; William, Arsani; Netea, Mihai G.; Dimitrakoff, Jordan

Note: Order does not necessarily reflect citation order of authors.

Citation: Bojarski, 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.
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Abstract: 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.
Published Version: doi:10.1371/journal.pone.0068118
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3704649/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11717531
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