Correlation between nc13d Gene Variability and Clinicopathological Features of Hemophagocytic Syndrome in Children

  • Li Wen
Keywords: Hemophagocytic Syndrome in Children, Nc13d Gene, Gene Variation, Clinicopathological Features


With the development of molecular genetics of HLH at home and abroad, the genetic immune deficiency caused
by nc13d gene variation is closely related to the occurrence of HLH, but at present, there is little research on
nc13d gene in China, which needs further exploration. in this study, to understand the variation of nc13d gene in
children with hemophagocytic syndrome and its correlation with children's hemophagocytic syndrome. 31
patients with hemophagocytic syndrome diagnosed in a hospital from January 2018 to January 2019 were
collected. According to the results of HPS gene detection, the patients were divided into HLH group and gene
mutation negative group. The age, gender, clinical symptoms, laboratory indexes and gene mutation of the two
groups were compared. The clinical characteristics of nc13d gene mutation children were further analyzed by
data statistics. In terms of gender, the ratio of men and women was 17:14, and the ratio of men and women over
5 years old was the highest, accounting for 47.7%. The etiology can be divided into five categories: 7 cases of
unknown causes, accounting for 26% of the total sample size; 6 cases of bacterial infection, 13 cases of viral
infection, 2 cases of fungal infection. 41% of the patients had gene mutation, 7% of them had hemizygous
mutation and 34% had heterozygous mutation.