title: Novel PI3Kγ 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 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.
authors.affiliation: Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Emeric F
authors.initials: EF
authors.lastname: Bojarski
authors.forename: Adam C
authors.initials: AC
authors.lastname: Strauss
authors.forename: Adam P
authors.initials: AP
authors.lastname: Fagin
authors.forename: Theo S
authors.initials: TS
authors.lastname: Plantinga
authors.forename: Alexander
authors.initials: A
authors.lastname: Hoischen
authors.forename: Joris
authors.initials: J
authors.lastname: Veltman
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Allsop
authors.forename: Victor J Anciano
authors.initials: VJ
authors.lastname: Granadillo
authors.forename: Arsani
authors.initials: A
authors.lastname: William
authors.forename: Mihai G
authors.initials: MG
authors.lastname: Netea
authors.forename: Jordan
authors.initials: J
authors.lastname: Dimitrakoff
mesh_terms: D000328:Adult; D000666:Amphotericin B / Q000627:therapeutic use; D000935:Antifungal Agents / Q000627:therapeutic use; D001483:Base Sequence; D002908:Chronic Disease; D058544:Class Ib Phosphatidylinositol 3-Kinase / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D005434:Flow Cytometry; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007958:Leukocyte Count; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D017699:Pelvic Pain / Q000097:blood / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics*; D015203:Reproducibility of Results
chemical_list: D000935:Antifungal Agents; D016756:Immunoglobulins, Intravenous; C068538:liposomal amphotericin B; D000666:Amphotericin B; D016178:Granulocyte-Macrophage Colony-Stimulating Factor; D058544:Class Ib Phosphatidylinositol 3-Kinase; C546760:PIK3CG protein, human