Table 3
HLH-associated gene mutations
Gene
.
Location
.
Disease
.
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
Gene
.
Location
.
Disease
.
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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