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Table 5 Respiratory and immune dysfunction

From: A Natural History Study of Timothy Syndrome

 

TS1

Gly406Arg

yes/total (%) n = 30

TS2

Gly406Arg

yes/total (%)

n = 11

Gly402Ser

yes/total (%)

n = 6

Diagnosed

nsLQT8

yes/total (%)

n = 12

Other

yes/total (%)

n = 28

Correlation p-value

Respiratory concerns

13/29 (45)

3/10 (30)

1/6 (17)

4/6 (67)

9/20 (45)

0.4695

 Early childhood respiratory concerns:

10/24 (42)

2/10 (20)

0/6 (0)

3/4 (75)

8/10 (80)

 

 Aspiration

2/29 (7)

1/10 (10)

1/6 (17)

0/4 (0)

4/10 (40)

 

 Frequent pneumonia

10/21 (48)

3/6 (50)

1/6 (17)

0/4 (0)

6/10 (60)

 

 Asthma

7/23 (30)

1/9 (11)

0/6 (0)

3/4 (75)

1/10 (10)

 

 Nebulizer treatments

5/20 (25)

1/9 (11)

0/6 (0)

3/4 (75)

0/10 (0)

 

 CRAP use

1/6 (17)

---

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---

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 Respiratory deaths

1/7 (14)

1/2 (50)

---

---

2/3 (67)

 

Frequent infections

9/25 (36)

5/11 (45)

0/6 (0)

9/11 (82)

11/21 (52)

0.0137

Delayed wound healing

2/30 (6)

1/9 (11)

0/6 (0)

2/9 (22)

4/19 (23)

0.0390