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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16 IL12B Male Baluch 3.60 9.20 Localized No No Unpublished
17 N/D Male Afghan 7.20 1.20 Localized Klebsiella, Enterobacter No Unpublished
18 N/D Male Azeri 2.40 1.00 Localized No Splenomegaly, Enteropathy Unpublished
19 N/D Female Afghan 2.40 2.50 Localized Candida Enteropathy, Atopy Unpublished
20 IL12RB1 Female Azeri 3.00 0.30 Localized No Septic arthritis, Atopy, Lung involvement, Splenomegaly Unpublished
21 IL12RB1 Female Azeri 42.00 3.00 Disseminated No Enteropathy, Atopy, Lung involvement Unpublished
22 IL12RB1 Female Azeri 3.60 2.80 Localized No No Unpublished
23 N/D Male Persian 3.60 0.80 Localized No Splenomegaly Unpublished
24 N/D Female Afghan 3.60 1.25 Disseminated No Splenomegaly, Lung involvement Unpublished