Abstract:Objective
Gene mutation analysis was performed on a family with familial hemophagocytic lymphohistiocytosis (FHL) so as to provide an accurate etiological diagnosis, leading to genetic counseling for the family members.
Methods
The clinical data of two probands (siblings) with FHL in one family were analyzed, and eight genes related to the onset of the primary hemophagocytic lymphohistiocytosis (pHLH) (
PRF1, UNC13D, STX11, STXBP2, SH2D1A, BIRC4/XIAP, Rab2… Show more
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