PRJNA418094
Amplicon sequecing of a HLH-related mutation  on SH2D1A
A 18 month old boy was found to have typical phenotype of lymphohistiocytosis syndrome including splenomegaly and hemophagocytosis in bone marrow, so amplicon sequencing targeting the HH-related genes were conducted. The result shows that a noevel pathogentic mutation in gene SH2D1A exists.