Novel PI3Kγ Mutation in a 44-Year-Old Man with Chronic Infections and Chronic Pelvic Pain

Autor: Jordan D. Dimitrakoff, Arsani William, Mihai G. Netea, Emeric Bojarski, Adam C. Strauss, Stephen A. Allsop, Alexander Hoischen, Theo S. Plantinga, Victor J. Anciano Granadillo, Joris A. Veltman, Adam P. Fagin
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Bacterial Diseases
Male
Antifungal Agents
DNA Mutational Analysis
lcsh:Medicine
Aetiology
screening and detection [ONCOL 5]

Leukocyte Count
Amphotericin B
Medicine
Missense mutation
Class Ib Phosphatidylinositol 3-Kinase
Exome
Genome Sequencing
Sinusitis
lcsh:Science
Immune Response
Multidisciplinary
Fungal Diseases
Immunoglobulins
Intravenous

Genomics
Flow Cytometry
Chronic bacterial prostatitis
medicine.anatomical_structure
Infectious Diseases
medicine.symptom
Sequence Analysis
medicine.drug
Research Article
Adult
medicine.medical_specialty
Molecular Sequence Data
Pelvic Pain
Invasive mycoses and compromised host [N4i 2]
Systemic Mycoses
Immune system
Genetic Mutation
Internal medicine
Scrotum
Genetics
Humans
Biology
Base Sequence
business.industry
Pelvic pain
lcsh:R
Computational Biology
Granulocyte-Macrophage Colony-Stimulating Factor
Reproducibility of Results
Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1]
medicine.disease
Chronic Bacterial Prostatitis
Immunology
Chronic Disease
Mutation
Etiology
lcsh:Q
Clinical Immunology
Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
business
Zdroj: PLoS ONE
PLoS ONE, Vol 8, Iss 7, p e68118 (2013)
PLoS One, 8
PLoS One, 8, 7
ISSN: 1932-6203
Popis: Contains fulltext : 140537.pdf (Publisher’s version ) (Open Access) 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 PI3Kgamma. PI3Kgamma is a crucial signaling element in leukotaxis and other leukocyte functions. We hypothesize that his mutation led to his chronic infections and pelvic pain. 10 p.
Databáze: OpenAIRE