The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistocytosis
10.3760/cma.j.issn.0578-1426.2011.04.004
- VernacularTitle:难治性病毒感染和原发噬血细胞性淋巴组织细胞增多症相关基因突变研究
- Author:
Chunrong TONG
;
Hongxing LIU
;
Jianjun XIE
;
Fang WANG
;
Peng CAI
;
Hui WANG
;
Juan ZHU
;
Wen TENG
;
Xian ZHANG
;
Junfang YANG
;
Yali ZHANG
;
Xinhong FEI
;
Jie ZHAO
;
Yuming YIN
;
Tong WU
;
Jingbo WANG
;
Yuan SUN
;
Rong LIU
;
Xiaodong SHI
;
Daopei LU
- Publication Type:Journal Article
- Keywords:
Lymphohistocytosis,hemophagocytic;
Virus diseases;
Mutation;
Lymphoma;
Epstein-Barr virus
- From:
Chinese Journal of Internal Medicine
2011;50(4):280-283
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the type and corresponding clinical characteristics of primary hemophagocytic lymphohistocytosis (HLH) associated immune gene mutations in the refractory virus infection or HLH of unknown causes. Methods From December 2009 to July 2010, the patients with refractory virus infection or HLH of unknown causes were screened for the primary HLH associated immune genes mutations by DNA sequence analysis, including PRF1, UNC13D, STX11, STXBP2, SH2D1A and XIAP. The clinical characteristics and outcomes were followed up. Results Totally 25 patients with refractory virus infection or HLH of unknown causes were investigated for the 6 genes and 13 cases were found carrying gene mutations, composing of 6 of PRF1 mutation, 3 of UNC13D, and each one of STX11,XIAP, SH2D1A and STXBP2, respectively. Among the 13 cases with gene mutations, 5 suffered from Epstein-Barr virus associated HLH( EBV-HLH), 1 human herpes virus 7 associated HLH (HHV7-HLH),1 HLH without causes, 4 chronic activated EB virus infection (CAEBV) with 1 progressing to Hodgkin's lymphoma carrying abnormal chromosome of t ( 15; 17 ) (q22; q25 ) and hyperdiploid, 2 EBV associated lymphoma. Among the other 12 patients without gene mutation, 4 suffered from EBV-HLH with 1 progressing to peripheral T lymphoma, 8 suffered from CAEBV. Conclusions Primary HLH associated immune gene mutations are critical causes of refractory virus infection of unknown causes, most patients manifest as HLH,some cases appear in CAEBV and EBV associated lymphoma. DNA sequence analysis is helpful to early diagnosis and correct decision-making for treatment.
