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Table 1 Summary of demographic and clinical features of MSMD patients

From: Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian Susceptibility to Mycobacterial Disease (MSMD): a case series

Patient No

Mutated Gene

Sex

Ethnicity

Age at BCG disease (month)

Age at MSMD diagnosis (year)

BCG disease type

Coinfections

Other comorbidities

References

1

IL23R

Male

Azeri

0.48

5.00

Disseminated

No

Lung involvement, Splenomegaly, Enteropathy

[18, 33]

2

IL12B

Female

Baluch

0.36

2.05

Disseminated

Candida

No

[18]

3

IL12RB1

Female

Persian

0.72

2.01

Disseminated

Salmonella, Klebsiella

Lung involvement

[18, 24]

4

IL12B

Female

Baluch

0.48

0.04

Disseminated

Salmonella, Candida

No

[18]

5

IL12RB1

Male

Persian

1.32

0.11

Disseminated

No

No

[18]

6

IL12B

Female

Baluch

6.00

3.00

Disseminated

Candida

No

[18]

7

IL23R

Male

Persian

3.60

7.00

Disseminated

No

No

[18]

8

IL12B

Female

Baluch

0.00

12.00

Disseminated

No

Vasculitis

[18]

9

IL12RB1

Female

Kurd

0.36

0.05

Disseminated

Salmonella

Splenomegaly

[18]

10

TYK2

Male

Baluch

0.36

7.00

Disseminated

No

Unilateral paresthesia, Lung involvement

[18, 34]

11

IL12RB1

Male

Persian

25.20

6.00

Disseminated

Salmonella

No

[18]

12

IL12RB1

Male

Persian

0.36

0.08

Disseminated

No

Splenomegaly

[18]

13

IL12RB1

Female

Persian

0.48

0.04

Disseminated

No

Splenomegaly

[18]

14

IL12B

Male

Baluch

0.36

7.00

Disseminated

No

Splenomegaly

[18]

15

IL12RB1

Male

Persian

4.80

2.00

Localized

No

No

(18)

16

IL12B

Male

Baluch

3.60

9.20

Localized

No

No

Unpublished

17

N/D

Male

Afghan

7.20

1.20

Localized

Klebsiella, Enterobacter

No

Unpublished

18

N/D

Male

Azeri

2.40

1.00

Localized

No

Splenomegaly, Enteropathy

Unpublished

19

N/D

Female

Afghan

2.40

2.50

Localized

Candida

Enteropathy, Atopy

Unpublished

20

IL12RB1

Female

Azeri

3.00

0.30

Localized

No

Septic arthritis, Atopy, Lung involvement, Splenomegaly

Unpublished

21

IL12RB1

Female

Azeri

42.00

3.00

Disseminated

No

Enteropathy, Atopy, Lung involvement

Unpublished

22

IL12RB1

Female

Azeri

3.60

2.80

Localized

No

No

Unpublished

23

N/D

Male

Persian

3.60

0.80

Localized

No

Splenomegaly

Unpublished

24

N/D

Female

Afghan

3.60

1.25

Disseminated

No

Splenomegaly, Lung involvement

Unpublished