A research group led by Professor Hiroyuki Sasaki of the Department of Epigenetic Control, Institute of Biodefense Medicine, Kyushu University, discovered the causative gene of congenital immunodeficiency syndrome (ICF syndrome) caused by genetic abnormalities.It is expected that early diagnosis will be possible even for ICF patients who were previously difficult to diagnose.
ICF syndrome is a disease in which some of the cells involved in immunity do not mature.This makes it impossible to make antibodies that neutralize pathogens that have invaded the body.Its low resistance to infection makes it more susceptible to severe infections.As a result, many patients die in early childhood.In order to prevent infectious diseases, it is effective to make an early diagnosis and supplement the antibody by treatment.
Previous studies have shown that the inability of immune cells to mature is due to poor control of gene function. Approximately half of ICF patients have found abnormalities in the genes that make the enzymes needed to control the genes.Furthermore, in 1/4 of the patients, it was possible to identify the gene in which the abnormality occurred, although the function was unknown.For about 3/4 of these patients, genetic testing enables early diagnosis of ICF.However, the cause could not be identified for the remaining 1/4 of the patients.In this study, we read the genetic information of the remaining 1/4 of the patients to see if there were any abnormalities.As a result, we succeeded in discovering a genetic abnormality common to many ICF patients whose cause has not been identified so far.This has enabled early diagnosis of more than 90% of ICF patients.
This discovery will save the lives of more patients.In the future, we will continue our research to investigate how newly discovered genes are involved in gene regulation.I would like to expect further investigation even in cases where the cause has not yet been identified.
Source:[Kyushu University] Discovered the causative gene of congenital immunodeficiency syndrome (ICF syndrome)! -Early definitive diagnosis is possible by identifying the causative gene of 90% or more of ICF syndrome patients- (PDF)