Identify genes associated with a rare blood disease

Previous studies have found 12 genes at risk for HLH, but these genes are only present in a small percentage of cases of HLH.

According to the report, the new study could help doctors screen for high-risk cases of genetic disease, thereby improving rates of early diagnosis and treatment.

The study was conducted for 237 cases. Of these, the estimated frequency of NBAS variants among pediatric patients is 2.11%, making it the second most frequent mutation rate, after PRF1, which has a mutation rate of 3.8%).