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Genetic susceptibility to Aspergillus fumigatus infections
Michael Ok1, Hermann Einsele, Juergen Loeffler
1Julius-Maximilians-Universität Würzburg, Medizinische Klinik & Poliklinik II, Josef-Schneider-Str. 2, 97080 Würzburg, Germany.
Abstract:
Invasive aspergillosis mostly caused by the opportunistic mould Aspergillus fumigatus is characterized by high morbidity and mortality in risk group patients. Several ethno-pathological factors promote the development and the course of this fungal infection like neutropenia, T-cell depletion, CD34-selected stem cell products, corticosteroid therapy, or cytomegalovirus infections. Furthermore, a growing number of defined single nucleotide polymorphisms affiliated to genes affecting the innate immune response has been described which genetically determine susceptibility to A. fumigatus. Thereby, it concerns a broad band ranging from genes encoding for cytokines or chemokines, their respective receptors to those of toll-like receptors including further genes involved in recognition and defence of pathogens by the innate immune system. Here, we summarize in detail the current knowledge about genetic markers correlated with invasive aspergillosis and their relevance for the developing and outcome of infections with A. fumigatus.
Insights
Genetic markers influence susceptibility to invasive aspergillosis, a serious fungal infection. Understanding these genetic factors can improve patient outcomes for Aspergillus fumigatus infections.
Area of Science:
- Medical Mycology
- Immunogenetics
- Infectious Diseases
Background:
- Invasive aspergillosis, primarily caused by Aspergillus fumigatus, presents significant morbidity and mortality in vulnerable patients.
- Risk factors include neutropenia, T-cell depletion, and corticosteroid therapy, alongside cytomegalovirus infections.
- Genetic predisposition to Aspergillus fumigatus infections is increasingly recognized, linked to single nucleotide polymorphisms in innate immunity genes.
Purpose of the Study:
- To comprehensively review current knowledge on genetic markers associated with invasive aspergillosis.
- To elucidate the relevance of these genetic markers in the development and prognosis of Aspergillus fumigatus infections.
Main Methods:
- Literature review of studies identifying genetic markers for invasive aspergillosis.
- Analysis of gene polymorphisms affecting innate immune response pathways relevant to Aspergillus fumigatus.
Main Results:
- Identified single nucleotide polymorphisms in genes encoding cytokines, chemokines, their receptors, and toll-like receptors.
- These genetic variations impact the innate immune system's ability to recognize and defend against Aspergillus fumigatus.
- Genetic factors play a role in determining susceptibility and potentially influencing the outcome of invasive aspergillosis.
Conclusions:
- Genetic markers are crucial determinants of susceptibility to invasive aspergillosis.
- Further research into these genetic factors can inform risk stratification and therapeutic strategies for Aspergillus fumigatus infections.
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