Table 3

HLH-associated gene mutations

GeneLocationDisease
PRF1 10q21-22 FHL2 
UNC13D 17q25 FHL3 
STX11 6q24 FHL4 
RAB27A 15q21 Griscelli syndrome 
STXBP2 19p13 FHL5 
Unknown 9q21.3-22 FHL1 
SH2D1A Xq24-26 XLP1 
XIAP Xq25 XLP2/X-linked HLH 
LYST 1q42.1-42.2 Chediak-Higashi syndrome 
GeneLocationDisease
PRF1 10q21-22 FHL2 
UNC13D 17q25 FHL3 
STX11 6q24 FHL4 
RAB27A 15q21 Griscelli syndrome 
STXBP2 19p13 FHL5 
Unknown 9q21.3-22 FHL1 
SH2D1A Xq24-26 XLP1 
XIAP Xq25 XLP2/X-linked HLH 
LYST 1q42.1-42.2 Chediak-Higashi syndrome 

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