whole exon sequencing of patients who carry a deleterious TNFRSF13B mutation
From May 2016 to December 2022, 6 patients in our hospital coincidentally met two criteria: a) be diagnosed with Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (EBV-HLH) or chronic active EBV disease of T/NK-cell type (CAEBV-T/NK); b) Potentially deleterious alterations in TNFRSF13B with or without other previously confirmed HLH-associated genetic mutations were reported in whole exon sequencing (WES)