Researchers diagnose rare pediatric immune disorder

ISTANBUL

Türkiye’s Marmara University Faculty of Medicine and the St. Anna Children’s Cancer Research Institute in Vienna, Austria, have joined forces in a groundbreaking study, leading to the identification of a previously unknown condition called "LTBR Deficiency."

The study sheds light on a rare congenital condition affecting the immune system in children, emphasizing the importance of early detection and treatment.

The condition, officially named Lymphotoxin Beta Receptor (LTBR) Deficiency, disrupts the proper development of lymph nodes, tonsils and spleen functionality. This deficiency leads to frequent and severe infections, including sinusitis, pneumonia and lung infections.

Symptoms like fever, fatigue, vomiting and diarrhea — often associated with common infections — may mask the underlying immune disorder, delaying essential treatment.

“LTBR is a protein essential for the normal functioning of the immune system. In children with LTBR Deficiency, key immune organs like the tonsils and adenoids fail to develop, making them vulnerable to recurring infections,” explained Doctor Safa Barış, a pediatric immunology specialist at Marmara University, speaking to the daily Hürriyet.

“These patients require lifelong treatments, including regular antibody therapy and preventative antibiotics, to manage their conditions. Early diagnosis is vital, as untreated infections can progress to life-threatening complications later in life.”

The researchers at Marmara University began working with a five-year-old patient whose persistent infections were unresponsive to conventional treatments in 2008. Collaborating with St. Anna Children’s Cancer Research Institute for over a decade, they identified LTBR Deficiency in 2018. Since then, two more cases have been diagnosed, bringing the global total to just three — all in Türkiye.

The research team anticipates that advancements in diagnostic techniques could reveal more cases soon.

“While there are currently three known patients, our projections suggest this number could rise to 40 within a year,” Barış noted.