Boztug Group

Background

Dysregulation of the immune system can lead to an increased susceptibility to infections, autoimmune manifestations and cancer. While research on immunodeficiencies has so far been primarily focused on the susceptibility to pathogens, the fact that a dysregulated immune system can also lead to malignancy has been largely neglected until recently.

Our Research

We want to uncover the molecular processes underlying IEIs in order to decipher the highly complex signaling pathways of the human body that are relevant for immunodeficiencies and cancer susceptibility. The investigations of these fundamental mechanisms have an enormous impact on how we understand the development of malignancies.  We study the interplay of genes and pathways that play a role in malignant and immune system disorders to enhance our molecular understanding of these diseases.

In close collaboration with several other groups at the institute and the St. Anna Children’s Hospital next door, we aim to translate the molecular understanding of childhood cancer (predisposition) to specific pathway modulations for the identification of targeted treatment approaches for pediatric cancer patients. We study patients suffering from inherited defects of the immune systems, so-called inborn errors of immunity (IEI), formerly known as primary immunodeficiencies, as (mono)genetic diseases provide unique opportunities to unravel genotype to phenotype relationships and to elucidate the pathogenic mechanisms of immune system disorders and their interaction with malignancy.

We utilize state-of-the art genomic approaches including exome sequencing of patient samples to identify causative genetic mutations, combined with a variety of functional assays to:

• Gain a systematic understanding of the molecular basis of human immune (dys)regulation including autoimmunity and childhood cancer predisposition
• Elucidate genetics and molecular pathophysiology of rare inborn errors of immunity and to decipher molecular targets for the development of personalized treatment options for immune deficiencies
• Identify molecular targets through an institute-wide pediatric precision oncology program for tailored treatment of childhood cancer which may be resistant to standard therapeutic protocols

The provision of highly specialised treatment and care for patients with rare diseases and complex clinical manifestations such as childhood cancer is still a challenge. Our investigations aim to improve our understanding of the molecular architecture of the immune system and its linkage with malignancy with the ultimate goal to improve the wellbeing of patients by developing targeted therapies and personalized medicine approaches.

Projects and Funding

Selected Articles

About Kaan Boztug