Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain.
PLoS One
; 8(7): e68118, 2013.
Article
em En
| MEDLINE
| ID: mdl-23861857
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Dor Pélvica
/
Classe Ib de Fosfatidilinositol 3-Quinase
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article