UZH master's student facilitates diagnosis of congenital immunodeficiencies

(CONNECT) Diagnosing congenital immunodeficiencies in children could become easier in the future. The Master's thesis by Marlene Münger, who is studying medicine at UZH, is responsible for this. She has investigated which genes are responsible for such congenital immunodeficiencies.

The background to this is that treating physicians often have difficulty recognizing immunodeficiencies because the symptoms often resemble common infections. According to an article published by UZH, the situation is further complicated by the fact that there are many different types of genetic immunodeficiencies, which differ greatly in their clinical manifestations and the severity of their symptoms.

Münger wanted to dedicate her Master's thesis to this topic because it has not yet been precisely researched how the interactions between immune cells are to be understood and why the immune system mistakenly attacks the body's own cells in the event of defects. She conducted research at the meta-level of studies.

From more than 1500 scientific papers, she and a team of five medical students selected 700 that describe disease symptoms and identify congenital immunodeficiencies. "We analyzed these and applied the dual control principle," says Münger. Thanks to an already established Internet application, she compiled her findings from the research.

One new finding is that children with symptoms such as recurrent infections, skin rashes and autoimmune reactions had genetic defects in the ARPC1B and WAS genes. In the case of recurrent fever and arthritis, mutations in the NOD2 gene were responsible for the symptoms. The Master's thesis with numerous other examples was not only awarded a semester prize. Additional recognition for the student is the planned publication in a scientific journal. ce/mm