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Table 3 Clinical data and Btk mutations of 16 patients reported in the world literature with atypical XLA.

From: X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature

  

Serum Ig level (mg/dL)*

Btk Mutation

 

Patient no.

Age (yrs) ϕ

IgG

IgA

IgM

Nucleotide Change

Domain

Reference

P1

51

401

<7

15

567C>A

TH

12

P2

26

169

8

7

UD

UD

 

P3

25

773

UD

1

UD

UD

4

P4

34

420

UD

UD

UD

UD

 

P5

27

635

<5

11

Glu605stop

SH1

9

P6

40

<20

<20

22

G>Aψ

NA

5

P7

39

220

UD

UD

W563L

SH1

 

P8

60

429

7

14

994C>T

SH2

6

P9

27

132

7

17

230C>T

PH

10

P10

21

35

8

29

1630A>G

SH1

8

P11

32

462

<8

<7

227T>C

PH

 

P12

32

702

185

<25

1706G>A

SH1

 

P13

28

454

95

38

UD

UD

11

P14

27

346

16

8

1705C>T

SH1

 

P15

24

NA

0

1

1942-1943del AG

SH1

 

P16

31

527

8

30

UD

UD

 
  1. UD, Undetermined; NA, Not applicable
  2. * Serum immunoglobulins reported at the age of diagnosis
  3. ϕ Age at diagnosis
  4. ψ Splice site mutation at the 3' end of intron 13: IVS 13 -1 G>A
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Clinical and Molecular Allergy

ISSN: 1476-7961

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