Novel PI3K? mutation in a 44-year-old man with chronic infections and chronic pelvic pain.

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 PI3K?. PI3K? is a crucial signaling element in leukotaxis and other leukocyte functions. We hypothesize that his mutation led to his chronic infections and pelvic pain.

SUBMITTER: Bojarski EF 

PROVIDER: S-EPMC3704649 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature