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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amphotericin B / therapeutic use
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Antifungal Agents / therapeutic use
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Base Sequence
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Chronic Disease
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Class Ib Phosphatidylinositol 3-Kinase / genetics*
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DNA Mutational Analysis
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Exome / genetics
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Flow Cytometry
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Granulocyte-Macrophage Colony-Stimulating Factor / therapeutic use
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Humans
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Immunoglobulins, Intravenous / therapeutic use
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Leukocyte Count
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Male
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Molecular Sequence Data
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Mutation / genetics*
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Pelvic Pain / blood
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Pelvic Pain / drug therapy
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Pelvic Pain / enzymology*
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Pelvic Pain / genetics*
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Reproducibility of Results
Substances
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Antifungal Agents
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Immunoglobulins, Intravenous
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liposomal amphotericin B
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Amphotericin B
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Granulocyte-Macrophage Colony-Stimulating Factor
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Class Ib Phosphatidylinositol 3-Kinase
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PIK3CG protein, human
Grants and funding
This work was supported by a Vici Grant of the Netherlands Organization for Scientific Research. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.