Table 2 - available via license: Creative Commons Attribution 4.0 International
Content may be subject to copyright.
Source publication
Background:
Hemophagocytic lymfohistiocytosis (HLH) is a rare, life-threatening hyperinflammation, characterized by immune system over-activation resulting in hemophagocytosis. HLH could appear as a primary disease caused by mutations of immune-regulatory genes, or develop as a result of viral or bacterial infections, or malignancy. Congenital fac...
Context in source publication
Citations
... CNKI, WanFang, and PubMed databases were searched for relevant articles published nearly five years using the keywords of "compound heterozygous mutation; FVII deficiency" in Chinese and English, respectively. There were 3 Chinese articles [8][9][10] and 5 English articles [11][12][13][14][15] concerning hereditary FVII deficiency on case report. Complete clinical data from 11 cases of hereditary FVII deficiency were analyzed, including 3 males and 8 females. ...
To investigate the value of genetic mutations in the pathogenesis and differential diagnosis of hemophagocytic lymphohistiocytosis (HLH), the mutations related to blood and immune deficiency genes were analyzed in patients with HLH. Peripheral blood samples from 33 children diagnosed with HLH according to the 2004 diagnostic criteria were collected, and 317 gens related with blood system diseases and 562 genes related with immunodeficiency were detected by the second generation targeted sequencing technology, bioinformatic analysis and parental verification analysis. A total of 159 mutations related with blood system diseases and immunodeficiency were found in 33 patients, including 7 HLH-related gene mutations (UNC13D, XIAP, LYST, STX11, ITK, PRF1 and SRGN) in 12 patients. UNC13D was found in 6 patients, with the highest frequency. Two cases (6.1%, 2/33) were diagnosed as primary hemophagocytic lymphohistiocytosis (pHLH), and six cases (18.2%, 6/33) were diagnosed as primary immunodeficiency disease (PID) or hereditary hematopathy, and the others were diagnosed as secondary hemophagocytic lymphohistiocytosis (sHLH). It is necessary to detect blood and immunodeficiency genes to exclude the possibility of pHLH, PID or hereditary hematopathy associated with HLH for children.
