PMID- 32571462
OWN - NLM
STAT- MEDLINE
DCOM- 20200625
LR  - 20200808
IS  - 1008-8830 (Print)
IS  - 1008-8830 (Linking)
VI  - 22
IP  - 6
DP  - 2020 Jun
TI  - [A genetic analysis of children with Epstein-Barr virus-positive hemophagocytic 
      lymphohistiocytosis and its association with T-helper type 1/T-helper type 2 
      cytokines].
PG  - 620-625
AB  - OBJECTIVE: To study the effect of genetic variation on the prognosis of children 
      with Epstein-Barr virus (EBV)-positive hemophagocytic lymphohistiocytosis (HLH) 
      and its association with cytokines. METHODS: A total of 81 EBV-positive HLH 
      children who received the sequencing of related genes were enrolled. According to 
      the results of gene detection, they were divided into a non-mutation group and a 
      mutation group. According to the pattern of gene mutation, the mutation group was 
      further divided into three subgroups: single heterozygous mutation (SHM), double 
      heterozygous mutation (DHM), and homozygous or compound heterozygous mutation 
      (H-CHM). The serum levels of cytokines were measured and their association with 
      HLH gene mutations was analyzed. RESULTS: UNC13D gene mutation had the highest 
      frequency (13/46, 28%). The STXBP2 c.575G>A(p.R192H) and UNC13D c.604C>A(p.L202M) 
      mutations (likely pathogenic) were reported for the first time. The mutation 
      group had a significantly higher level of tumor necrosis factor alpha (TNF-alpha) 
      than the non-mutation group, while it had a significantly lower level of 
      interferon gamma (IFN-gamma) than the non-mutation group (P<0.05). The IL-4 level of 
      the DHM subgroup was higher than that of the non-mutation group, while the IL-4 
      level of the H-CHM subgroup was lower than that of the DHM group (P<0.0083). The 
      H-CHM subgroup had a significantly lower 1-year overall survival rate than the 
      non-mutation group, the SHM subgroup, and the DHM subgroup (39%+/-15% vs 
      85%+/-6%/86%+/-7%/91%+/-9%, P=0.001). CONCLUSIONS: There is a significant reduction in 
      IFN-gamma level in the mutation group. Children with homozygous or compound 
      heterozygous mutation tend to have poorer prognosis, while other mutations do not 
      have a significant impact on prognosis.
FAU - Zhang, Yao
AU  - Zhang Y
AD  - Pediatric Hematology and Oncology Center, Children's Hospital, Zhejiang 
      University School of Medicine, National Clinical Research Center for Child 
      Health, Hangzhou 310003, China. y_m_tang@zju.edu.cn.
FAU - Tang, Yong-Min
AU  - Tang YM
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhongguo Dang Dai Er Ke Za Zhi
JT  - Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
JID - 100909956
RN  - 0 (Cytokines)
RN  - 0 (Membrane Proteins)
RN  - 0 (UNC13D protein, human)
SB  - IM
MH  - Child
MH  - Cytokines
MH  - *Epstein-Barr Virus Infections/complications
MH  - Genetic Testing
MH  - Herpesvirus 4, Human
MH  - Humans
MH  - *Lymphohistiocytosis, Hemophagocytic/genetics
MH  - Membrane Proteins
MH  - Th1 Cells
MH  - Th2 Cells
PMC - PMC7390204
EDAT- 2020/06/24 06:00
MHDA- 2020/06/26 06:00
PMCR- 2020/06/25
CRDT- 2020/06/24 06:00
PHST- 2020/06/24 06:00 [entrez]
PHST- 2020/06/24 06:00 [pubmed]
PHST- 2020/06/26 06:00 [medline]
PHST- 2020/06/25 00:00 [pmc-release]
AID - 10.7499/j.issn.1008-8830.2003184 [pii]
AID - zgddekzz-22-6-620 [pii]
AID - 10.7499/j.issn.1008-8830.2003184 [doi]
PST - ppublish
SO  - Zhongguo Dang Dai Er Ke Za Zhi. 2020 Jun;22(6):620-625. doi: 
      10.7499/j.issn.1008-8830.2003184.