Application of detection of mutations in blood and immunodeficiency genes in the diagnosis of HLH patients

HLH is caused by excessive activation of lymphocytes and histiocytes, secretion of a large number of cytokines, which eventually leads to fatal inflammatory damage, characterized by damages to multiple organs, rapid disease progression and high mortality. HLH can be divided into primary and secondary HLH according to etiology. Primary HLH includes familial HLH (FLH) and immunodeficiency-related HLH. The former can be classified into five types: FHL1-FHL5. The latter includes Chediak-Higashi syndrome 1, Glicelli syndrome II, Hermansky-Pudlak syndrome II, X-linked lymphoid tissue proliferation syndrome 1 and X-linked lymphoproliferative syndrome 2, and IL-2-mediated T-cell kinase deficiency-related lymphoblastic syndrome.

Source: Experimental Hematology - September 24, 2019 Category: Hematology Authors: Wenyuan Mo, Wei Wei, Yan Sun, Yanhong Yang, Zebing Guan, Mingjie Li, Ping Zhu, Zuohua Chi Source Type: research