PRESS RELEASE: Discovery of “LTβR Deficiency,” a Congenital Immune Deficiency Disease
The Department of Pediatric Immunology and Allergy at Marmara University, the Işıl Berat Barlan Translational Medicine Research Center with St. Anna Children’s Cancer Research Institute in Vienna, and the Can Sucak Translational Immunology Research Laboratory in Ankara have identified “LTβR Deficiency,” a critical disease that affects the development of lymph nodes and tonsils, which are vital components of the immune system.
This groundbreaking discovery, published in the highly prestigious journal Science Immunology, represents a significant scientific achievement. The identification of a new disease was conducted through robust international collaboration. Prof. Dr. Safa Barış and his team, renowned for their tremendous contributions to inborn errors of immunity, have collaborated extensively over the years with Prof. Dr. Kaan Boztuğ, a prominent Scientific Director and Principal Investigator at St. Anna Children’s Cancer Research Institute. Their partnership has led to identifying and treating several previously unexplained immune deficiencies. In recent years, this collaboration has been further strengthened by the contributions of Assoc. Prof. Dr. Baran Erman, Principal Investigator at the Can Sucak Translational Immunology Research Laboratory, resulted in groundbreaking contributions to the scientific literature from Turkey.
Lymph nodes serve as a critical first line of defense in the immune system, protecting against infections. However, LTβR deficiency disrupts the development of lymph nodes and tonsils and impairs splenic function, leaving the immune system unable to combat infections effectively. Affected individuals experience severe infections, primarily in the respiratory system, among other organs. This research highlights how genetic defects can compromise not only immune cells but also the structural components that coordinate immune cell function, unveiling a novel mechanism underlying immune system disorders.
Beyond identifying the disease, the study demonstrates the efficacy of treatment in controlling infections and shows clear positive outcomes in disease progression. This pioneering work sheds light on the development of innovative therapeutic approaches.
We extend our gratitude to the Department of Pediatric Allergy and Immunology, especially Prof. Dr. Safa Barış, as well as esteemed faculty members Prof. Dr. Ahmet Özen, Prof. Dr. Elif Karakoç-Aydıner, PhD Instructor Sevgi Bilgiç Eltan, and Specialist Dr. Melek Yorğun Altunbaş, for their contributions to this significant discovery.
Publication Details:
Title: “LTβR deficiency causes lymph node aplasia and impaired B cell differentiation”
Published in Science Immunology on November 22, 2024. DOI: 10.1126/sciimmunol.adq8796
Supporting Organizations:
This study was supported by TUBITAK, the European Research Council (ERC), the Austrian Research Promotion Agency (FFG), the P.T. Engelhorn Foundation, the Austrian Academy of Sciences, and the Austrian Science Fund (FWF).
