Case Report
Copyright ©The Author(s) 2021.
World J Clin Cases. Jul 26, 2021; 9(21): 6056-6066
Published online Jul 26, 2021. doi: 10.12998/wjcc.v9.i21.6056
Table 1 Cases of familial hemophagocytic lymphohistiocytosis reported in Chinese population
Case
Age of onset
Gender
Variant
Amino acid change(s)
Type of mutation
Ref.
16 yrMc.C1066Tp.R356WMissense mutation[10]
219 yrMc.C1349Tp.T450MMissense mutation
327 yrMc.65delCp.P22RfsX29Frameshift mutation
c.G503Ap.S168NMissense mutation
411 yrMc.T172Cp.S58PMissense mutation
c.1083_1094delp.361_365delFrameshift mutation
59 yrFc.G218Ap.C73YMissense mutation
c.G394Ap.G132RMissense mutation
617 yrFc.A380Gp.N127SMissense mutation
c.853_855delAAGp.K285delFrameshift mutation
720 yrFc.G503Ap.S168NMissense mutation
c.C1349Tp.T450MMissense mutation
81 yrFc.C673Tp.R225WMissense mutation
c.T1535Gp.L512RMissense mutation
92 moMc.853_855delAAGp.K285delFrameshift mutation
c.C1349Tp.T450MMissense mutation
106 yrFc.853_855delAAGp.K285delFrameshift mutation
c.C1349Tp.T450MMissense mutation
113 yrMc.G984Ap.W328XNonsense mutation
c.C1349Tp.T450MMissense mutation
122 yrFc.1090_1091delCTp.T364fsX93Frameshift mutation
c.C1349Tp.T450MMissense mutation
131 yrFc.C10Tp.R4CMissense mutation
1410 yr 9 moMc.65delCp.P22RfsX29Frameshift mutation
1514 yrMc.G503Ap.S168NMissense mutation
1613 yrMc.G503Ap.S168NMissense mutation
173 yrMc.G503Ap.S168NMissense mutation
1824 yrMc.C1005Ap.S335RMissense mutation
1926 yrMc.1419delCp.T474QfsX5Frameshift mutation
201 yr 6 moFc.1083_1094delp.361_365delFrameshift mutation[11]
c.634T>Cp.Y212HMissense mutation
214 yr 11 moFc.1349C>Tp.T450MMissense mutation
c.853_855delAAGp.K285delFrameshift mutation
229 yrFc.1349C>Tp.T450MMissense mutation
c.1306G>Tp.D436YMissense mutation
231 yr 9 moMc.65delCp.P22RfsX29Frameshift mutation
c.148G>Ap.V50MMissense mutation
247 yrMc.C10Tp.R4CMissense mutation[12]
p.R33Hp.R33HMissense mutation
256 yrMp.V50Lp.V50LMissense mutation
264 yrMC1465A>Tp.R489WMissense mutation
2725 yrMc.65delCp.P22RfsX29Frameshift mutation[13]
c.916G>Ap.G306SMissense mutation
2813 yrFc.503G>Ap.S168NMissense mutation[14]
c.1177T>Cp.C393RMissense mutation
298 yrMc.1349C>Tp.T450MMissense mutation[3]
c.445G>Ap.G149SMissense mutation
3048 yrMc.916G>Ap.G306SMissense mutation[15]
c.822C>Tp.A274=Synomynous mutation
c.900C>Tp.H300=Synomynous mutation
312 yr 2 moFc.10 C>Tp.R4CMissense mutation[16]
328 yr 5 moc.1349CTp.T450MMissense mutation[17]
c.1273dupTp.W425fsX457Frameshift mutation
335 yr 2 moMc.305C>Tp.C102FMissense mutation[18]
3414 yr 5 moFc.503G>Ap.S168NMissense mutation
355 yr 2 moFc.503G>Ap.S168NMissense mutation
c.1349C>Tp.T450MMissense mutation
3645 DFc.65delCp.P22Rfs*29Frameshift mutation[19]
c.65delCp.P22Rfs*29Frameshift mutation
3713 yr 8 moFc.1349C>Tp.T450MMissense mutation[20]
c.1450G>Ac.1450G>AMissense mutation
382 moMc.1349C>Tp.T450MMissense mutation
c.853_855delAAGp.K285delFrameshift mutation
394 yrFc.133G>Ac.133G>AMissense mutation
c.116C>Ac.116C>AMissense mutation
404 yr 2 moFc.1349C>Tp.T450MMissense mutation
c.65delCc.65delCFrameshift mutation
413 yrFc.1349G>Ac.1349G>AMissense mutation
c.218C>Tc.218C>TMissense mutation
425 moFc.673C>Tc.673C>TMissense mutation
c.1535T>Gc.1535T>GMissense mutation
434 yr 11 moFc.1349C>Tp.T450MMissense mutation
c.853_855delAAGp.K285delFrameshift mutation
4410 moFc.1349C>Tp.T450MMissense mutation
c.1090_1091delCTp.T364fsX93Frameshift mutation
4511 yr 3 moMc.1349C>Tp.T450MMissense mutation
c.503G>Ap.S168NMissense mutation
466 yrFc.133G>Ac.133G>AMissense mutation
c.394G>Ac.394G>AMissense mutation
478 moMc.562C>Gp.P188AMissense mutation[21]
481 yrMc.98G>Ap.R33HMissense mutation
491 yrMc.65delCp.P22RfsX29Frameshift mutation
c.1349C>Tp.T450MMissense mutation
501 yrMc.65delCp.P22RfsX29Frameshift mutation
c.1349C>Tp.T450MMissense mutation
512 yrMc.1349C>Tp.T450MMissense mutation
c.1103T>Ap.L368QMissense mutation
522 yrMc.1349C>Tp.T450MMissense mutation
c.1491T>Ap.C497XNonsense mutation
533 yrMc.1349C>Tp.T450MMissense mutation
543 yrMc.634T>Cp.Y212HMissense mutation
c.65delCp.P22RfsX29Frameshift mutation
553 yrFc.673C>Tp.R225WMissense mutation
c.1304C>Tp.T435MMissense mutation
564 yrMc.742G>Ap.G248RMissense mutation
574 yrMc.65delCp.P22RfsX29Frameshift mutation
c.148G>Ap.V50MMissense mutation
585 yrMc.65delCp.P22RfsX29Frameshift mutation
c.1349C>Tp.T450MMissense mutation
596 yrMc.394G>Ap.G132RMissense mutation
606 yrFc.445G>Ap.G149SMissense mutation
c.1349C>Tp.T450MMissense mutation
619 yrMc.1349C>Tp.T450MMissense mutation
6210 yr 9 moFc.503G>Ap.S168NMissense mutation
c.215G>Ap.T72NMissense mutation
6319 yrMc.1066C>Tp.R356WMissense mutation
6456 yrMc.65delCp.P22RfsX29Frameshift mutation
c.503G>Ap.S168NMissense mutation
6518 yrFc.1168C>Tp.R390XNonsense mutation[22]
c.1349C>Tp.T450MMissense mutation
6619 yrMc.1349C>Tp.T450MMissense mutation
6718 yrMc.172T>Cp.S58PMissense mutation
c.1083_1094delp.361_365delFrameshift mutation
6854 yrFc.65delCp.P22RfsX29Frameshift mutation
c.674G>Ap.R225QMissense mutation
6927 yrMc.503G>Ap.S168NMissense mutation
c.65delCp.P22RfsX29Frameshift mutation
7018 yrFc.1090_109ldelp.T364fsX93Frameshift mutation
c.1349C>Tp.T450MMissense mutation
7118 yrMc.65delCp.P22RfsX29Frameshift mutation
c.1349C>Tp.T450MMissense mutation
7218 yrFc.380A>Gp.N127SMissense mutation
c.853_855delAAGp.K285delFrameshift mutation
7318 yrFc.46C>Tp.P16SMissense mutation
c.1066C>Tp.R356WMissense mutation
7415 yrMc.1349C>Tp.T450MMissense mutation[23]
c.282C>Ap.N94KMissense mutation
7512 yrMc.1349C>Tp.T450MMissense mutation
c.282C>Ap.T450MMissense mutation