Blood Research

Gene mutations associated with hemophagocytic lymphohistiocytosis.

Disease Genetic mutations
FHL1 Unknown (9q21.3–2)
FHL2 PRF1, perforin (10q21–2)
FHL3 MUNC13D, Munc13-4 (17q25)
FHL4 STX11, Syntaxin11 (6q24)
FHL5 STXBP2, Munc18-2 (19p)

Abbreviation: FHL, familial hemophagocytic lymphohistiocytosis.

Blood Res 2021;56:S17~S25 https://doi.org/10.5045/br.2021.2020323
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