Objectives: To study the clinical features and gene mutations of EBV-HLH in Chinese children.
Methods: Sixteen pediatric patients with Epstein-Barr virus-associated HLH were enrolled the study from May 2011 to September 2012, who were admitted to Capital Institute of Pediatrics. All patients' clinical features were recorded and their nucleotide sequences of all exons and their flanking intronic sequences of perforin (PRF1) gene, protein unc-13 homolog D (UNC13D) gene, two fusion protein genes of syntaxin 11 (STX11)gene, synaptic binding protein 2 (STXBP2) gene, SH2 domain 1A (SH2D1A) gene, and the X-linked inhibitor of apoptosis protein (XIAP) gene were amplified by PCR followed by direct sequencing. Based on HLH gene detection results, all patients divided into the positive and negative gene EBV-HLH subgroups. Statistical analysis was conducted using SPSS 11.5 software.
Results: Seven of sixteen pediatric patients with EBV-HLH were identified with heterozygous, hemizygous, and homozygous mutations in PRF1, UNC13D, STXBP2, and SH2D1A. No significant differences were found on the gender, age, illness duration, EBV load, the positive duration of EBV-DNA, lab results, clinical symptoms, treatment, and the outcome between the HLH gene positive and negative subgroups (P > 0.05).
Conclusions: A considerable EBV-HLH pediatric patients have genetic defects, and HLH gene defects may not affect the clinical features and treatment of EBV-HLH pediatric patients.