OpenMed/multicare-articles huggingface dataset:
Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain
Authors: Emeric F Bojarski, Adam C Strauss, Adam P Fagin, Theo S Plantinga, Alexander Hoischen, Joris Veltman, Stephen A Allsop, Victor J Anciano Granadillo, Arsani William, Mihai G Netea, Jordan Dimitrakoff
Journal: PLoS One (2013)
MeSH terms: Class Ib Phosphatidylinositol 3-Kinase / genetics, Mutation / genetics, Pelvic Pain / enzymology, Pelvic Pain / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Amphotericin B / therapeutic use, Antifungal Agents / therapeutic use, Base Sequence, Chronic Disease, DNA Mutational Analysis, Exome / genetics, Flow Cytometry, Granulocyte-Macrophage Colony-Stimulating Factor / therapeutic use, Humans, Immunoglobulins, Intravenous / therapeutic use, Leukocyte Count, Male, Molecular Sequence Data, Pelvic Pain / blood, Pelvic Pain / drug therapy, Reproducibility of Results, Antifungal Agents, Immunoglobulins, Intravenous, liposomal amphotericin B, Amphotericin B, Granulocyte-Macrophage Colony-Stimulating Factor, Class Ib Phosphatidylinositol 3-Kinase, PIK3CG protein, human

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.