We extend our warm congratulations to Dr. Sigal Matsa-Porgas, Head of the Department of Medical Laboratory Sciences and Coordinator of Immunogenetics at the Department of Genetics, Hadassah Medical Center, on the recent publication of her case report in the scientific journal Cureus.
The article, titled “Recurrent Bloodstream Infections Without Sepsis in a Patient With Short Bowel Syndrome on Parenteral Nutrition: A Case of Potential Sepsis Tolerance”, presents a rare and thought-provoking clinical case. It describes the experiments done to explain the cause of death of a patient who experienced recurrent infections, including infections that entered the bloodstream, but did not develop sepsis at first. Surprisingly, the patient appeared to exhibit an unusual form of tolerance to sepsis, raising the possibility of an underlying genetic factor conferring this protection. Unfortunately, in the final infection, sepsis did develop and led to the patient's death.
Dr. Matsa-Forgas and her team hypothesized that pathogenic variants in genes involved in the immune response to infection may have played a role. Despite efforts to conduct extensive genetic testing using deep sequencing methods, the investigation could not be completed due to the family's strong opposition. As a result, the genetic basis of this possible sepsis tolerance remains an open question.
This important work contributes to the growing body of research exploring genetic resistance to severe infections and highlights the ethical complexities involved in post-mortem genetic analysis.