Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, fatal disorder of early infancy.
sudden-onset fever
visceral lymphohistiocytic infiltration
meningeal lymphohistiocytic infiltration
hepatic anomalies
Loci
HLH1 at 9q21.3-q22
HLH2 at 10q21-q22: mutations in the gene encoding perforin (PRF1) (MIM.170280)
HLH3 at 17q25.1: mutations in the UNC13D gene (MUNC13-4)(MIM.608897)
HLH4 at 6q24: mutations in syntaxin-11 (STX11) (MIM.605014)
References
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