Article
A cell-based functional assay that accurately links genotype to phenotype in familial HLH.
Blood - 11 May 2023
Noori Tahereh, Rudd-Schmidt Jesse A, Kane Alisa, Frith Katie, Gray Paul E, Hu Hannah, Hsu Danny, Chung Clara W T, Hodel Adrian W, Trapani Joseph A, Voskoboinik Ilia
Abstract excerpt
Familial forms of the severe immunoregulatory disease hemophagocytic lymphohistiocytosis (HLH) arise from biallelic mutations in the PRF1, UNC13D, STXBP2, and STX11 genes. Early and accurate diagnosis of the disease is important to determine the most appropriate treatment option, including potentially curative stem cell transplantation. The diagnosis of familial HLH (FHL) is traditionally based on finding...
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