Novel PI3K[gamma] Mutation in a 44-Year-Old Man with Chronic Infections and Chronic Pelvic Pain
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...
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Veröffentlicht in: | PloS one 2013-07, Vol.8 (7), p.e68118 |
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Sprache: | eng |
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Zusammenfassung: | 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 PI3K[gamma]. PI3K[gamma] 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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ISSN: | 1932-6203 1932-6203 |
DOI: | 10.1371/journal.pone.0068118 |