Hadassah Doctors Discover Reason for Infections in Children

Hadassah doctors discover the reason behind life-threatening
recurrent infections and bone marrow failure among children

A group of researchers from the Hadassah Medical Organization – Dr. Polina Stepensky, a pediatric hematology/oncology and bone marrow transplant specialist; Prof. Orly Elpeleg, Head of the Department of Genetics & Metabolic Diseases; and Prof. Dror Mevorach, Head of the Department of Medicine B and Director of the Rheumatology Research Center, discovered the reason for recurrent life threatening infections and the bone marrow failure in children. Following six months of intensive research, they found a gene connected to intracellular storage and transport in select white blood cells of the immune system and bone marrow. The research was published in the prestigious medical journal “Blood” on April 18th and has drawn much interest world-wide.


The researchers began this interdisciplinary study when five children from different families were admitted to Hadassah with recurrent, serious infections with the subsequent bone marrow failure. Using cutting edge technology available at Hadassah, they focused on a specific gene which was found to be defective in families, who were of Saudi Arabian descent.


It was then that the researchers attempted to decipher the mechanism – how the defective gene led to such a catastrophic illness.  They learned that the mutation caused increased programmed cell death in select white blood cells and bone marrow. Additionally, the researchers were able to show that the intracellular transport system in the blood cells was collapsing due to the absence of intracellular storage vesicles (lysosomes and alpha-granules).


An immediately obvious advantage of these findings is the doctors’ ability to offer mutation testing for the families of the sick children, as well as the general population. As of today, two of the children have recovered from this debilitating condition thanks to successful bone marrow transplants performed at Hadassah.