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Table 1 Summary of genetic findings in 45 HLH patients

From: Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis

Case

Gender

Age

Candidate gene

Exon/intron

Nucleotide change

Amino acid change

Genotype

P2

F

6Y3M

PRF1

Exon3

c.757G>A

c.1061A>T

p.Glu253Lys

p.Asp354Val

heterozygous

heterozygous

P16

M

3Y3M

SH2D1A

Exon2

c.191G>A

p.Trp64Ter

hemizygous

P17

M

11M24D

SH2D1A

Exon2

c.162C>G

p.Tyr54Ter

hemizygous

P26

M

11M17D

SH2D1A

Exon2

c.163C>T

p.Arg55 Ter

hemizygous

P1

M

1Y5M

PRF1

Exon2

c.385T>A

p.Trp129Arg

heterozygous

P3

M

4Y5M

UNC13D

Exon6

c.478G>A

p.Val160 Met

heterozygous

P4

M

2Y8M

UNC13D

Exon6

c.518C>T

p.Thr173Met

heterozygous

P5

F

1Y7M

UNC13D

Exon10

c.760C>T

p.Arg254Cys

heterozygous

P6

M

8D

UNC13D

Exon23

c.2296C>T

p.Glu766Ter

heterozygous

P7

M

25D

UNC13D

Exon32

c.3259C>T

p.Arg1087Trp

heterozygous

   

XIAP

Exon5

c.1268A>C

p.Gln423Proa

hemizygous

P8

M

7Y9M

STXBP2

Exon7

c.497C>T

p.Thr166Meta

heterozygous

P9

M

11Y11M

STXBP2

Exon7

c.497C>T

p.Thr166 Meta

heterozygous

P10

F

5Y8M

STXBP2

Exon7

c.575G>A

p.Arg192His

heterozygous

P11

M

1Y1M

STXBP2

Exon9

c.767T>C

p.Leu256Pro

heterozygous

P38

M

1Y1M

XIAP

Exon5

c.1268A>C

p.Gln423Proa

hemizygous

P45

M

4Y

UNC13D

Intron1

c.118-307G>A

Unknown

heterozygous

  1. Gender, M male, F female
  2. Age, Y year, M month, D day
  3. aSingle nucleotide polymorphism (SNP)
  4. Ter Terminator, which would result in truncated protein