Clinical and microbiological findings in patients with impaired IFN-γ production
| Patient . | Gene . | Nucleotide change . | Sex . | Age at onset . | Current age . | Consanguinity . | BCG infection . | Other organ involvement . | Failure to thrive . | Diarrhea . | Other organism . | Treatment . | Outcome . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1_P1 | IL12RB1 | c.1791+2T>G | M | 7 m | 26 y | Yes | BCG adenitis | Left axillary, cervical, abdomen | Yes | Yes | Nontyphoidal Salmonella | ATT for 6 m | Alive |
| F2_P2 | IL12RB1 | c.1095_1106del | M | 5 m | 11 m | Yes | BCG adenitis | Left axillary | - | - | - | ATT | Alive |
| F3_P3 | IL12RB1 | c.962C>A | F | 6 m | - | Yes | BCG adenitis | Left axillary | - | - | - | ATT for 9 m | Dead |
| F4_P4 | IL12RB1 | c.962C>A | F | 6 m | - | Yes | BCGosis | Left axillary, mandibular, abdomen | Yes | - | Salmonella choleraesuis | ATT twice for 9 ma | Dead |
| F5_P5 | IL12RB1 | c.962C>A | M | 3 m | - | Yes | BCGosis | Left axillary, cervical, lungs, sepsis | Yes | - | Candida spp. | ATT | Dead |
| F6_P6 | IL12RB1 | c.1791+2T>G | M | 3 m | - | No | BCG adenitis | Left axillary, submandibular, oral candidiasis | Yes | Yes | Candida spp. | ATT for 1 y | Lost to follow-up |
| F7_P7a | IL12RB1 | c. 982delC/c. 982delC | M | 2.4 m | 25 y | Yes | BCGosis | Left axillary, lungs, IBD | Yes | - | H. capsulatum, G. lamblia | ATT thrice for 9 m, amphotericin B, i.v. antibiotics | Alive |
| F8_P8a | IL12RB1 | c.1791+2T>G | F | 6 m | - | Yes | BCG adenitis | Left axillary, cervical, and inguinal | - | - | - | ATT | Dead |
| F8_P8b | IL12RB1 | c.1791+2T>G | F | 3 m | 7 y | Yes | BCG adenitis | Left axillary | - | - | - | ATT for 2 years | Alive |
| F9_P9 | IL12RB1 | c.962C>A | M | 7 m | - | Yes | BCG adenitis | Left axillary, abdominal, cholangitis | - | - | - | ATT twice | Dead |
| F10_P10 | IL12RB1 | c.(1327+1_1328-1)_(1483+1_1484-1)del | M | 5 m | 5.5 y | No | BCG adenitis | Left axillary | - | - | - | ATT for 9 m | Alive |
| F11_P11 | IL12RB1 | c.962C>A | F | 3 m | - | Yes | BCG adenitis | Left axillary | - | - | - | ATT for 9 m | Dead |
| F12_P12 | IL12RB1 | c.493C>T | M | 6 y | - | Yes | No | Left axillary, cervical, skin, chest wall abscess | Yes | Yes | - | MDR ATT for 18 m, clarithromycin | Dead |
| F13_P13 | IL12RB1 | c.632G>C | F | 4.5 m | - | Yes | BCGosis | Left axillary, GI tract, Skin | Yes | - | - | ATT for 9 m | Dead |
| F14_P14 | IL12RB1 | c.995G>A | M | 10 m | - | NA | BCGosis | Left axillary, abdomen | Yes | - | - | First-line and second-line ATT | Dead |
| F15_P15 | IL12RB1 | c.587G>T | M | 3 m | 10.5 y | Yes | BCG adenitis | Left axillary, skin, liver, spleen | Yes | - | - | Sirolimus | Alive |
| F16_P16 | IL12RB1 | c.962C>A | M | 3.6 m | 15 y | NA | BCGosis | Left axillary, inguinal, cervical, abdominal, liver abscess, brain | Yes | - | - | Multiple ATT | Alive |
| F17_P17a | IL12RB1 | c.599del | F | 7 m | 14 y | No | BCG adenitis | Left axillary, kidney | - | - | - | ATT | Alive |
| F18_P18 | IL12RB1 | c.1242C>G | M | 4 m | - | Yes | BCGosis | Left axillary, cervical, and inguinal, liver, spleen | - | - | - | | Dead |
| F19_P19 | IL12RB1 | c.1791+2T>G | M | 4 m | 13.5 y | Yes | BCG adenitis | Left axillary, perihilar, skin rash | - | - | Salmonella enterica | i.v. antibiotics | Alive |
| F7_P7b | IL12RB1 | c. 982delC/c. 982delC | M | 4 m | - | Yes | BCG adenitis | Left axillary, cervical, skin rash | - | - | - | ATT | Lost to follow-up |
| F17_P17b | IL12RB1 | c.599del | F | 7 m | 19 y | No | BCGosis | Left axillary, cervical, liver, spleen, skin | - | - | - | First-line (6 m) and second-line (1 year) ATT, oral ATT (6 m) | Alive |
| F20_P20 | IL12RB1 | chr19:g.(18083492_18086759)_(18086933_18098754)del | F | 3 m | 4 y | No | BCGosis | Left axillary, cervical, and inguinal, liver, spleen | - | - | - | ATT | Alive |
| F21_P21 | IL12RB1 | c.1791+2T>G | M | 3 m | 2.5 y | No | BCG adenitis | Left axillary | - | Yes | - | ATT, i.v. antibiotics, IVIG | Alive |
| F22_P22a | IL12RB1 | c.587G>T | M | 1 y | - | NA | BCG adenitis | Left axillary | - | - | - | ATT | Lost to follow-up |
| F22_P22b | IL12RB1 | c.587G>T | F | 1 y | - | NA | BCG adenitis | Left axillary, inguinal | - | - | - | ATT | Lost to follow-up |
| F23_P23 | IL12RB1 | c.494del | M | 5 y | 14 y | Yes | BCG adenitis | Left axillary, cervical, mediastinal, inguinal, abdominal, retroperitoneal, lungs | Yes | - | Nontyphoidal Salmonella, Nocardia spp. | ATT, cephalosporin, fluconazole, IFN-α | Alive |
| F24_P24 | IL12RB1 | c.1189+1del | F | 3 m | 2 y | Yes | BCG adenitis | Left axillary | - | - | - | Amoxicillin, ATT 9 m | Alive |
| F25_P25 | IL12RB1 | c.515dup | M | 3 m | - | NA | BCG adenitis | Left axillary, oral thrush | - | - | Candida spp. | ATT | Lost to follow-up |
| F26_P26 | IL12RB1 | c.962C>A | M | 2 m | 5 y | No | BCG adenitis | Left axillary, cervical, lungs | - | - | | ATT | Alive |
| F44_P44 | IL12B | c.429G>A | M | 3 m | 27 y | Yes | BCGosis | Liver, spleen | - | - | - | ATT thrice | Alive |
| Patient . | Gene . | Nucleotide change . | Sex . | Age at onset . | Current age . | Consanguinity . | BCG infection . | Other organ involvement . | Failure to thrive . | Diarrhea . | Other organism . | Treatment . | Outcome . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1_P1 | IL12RB1 | c.1791+2T>G | M | 7 m | 26 y | Yes | BCG adenitis | Left axillary, cervical, abdomen | Yes | Yes | Nontyphoidal Salmonella | ATT for 6 m | Alive |
| F2_P2 | IL12RB1 | c.1095_1106del | M | 5 m | 11 m | Yes | BCG adenitis | Left axillary | - | - | - | ATT | Alive |
| F3_P3 | IL12RB1 | c.962C>A | F | 6 m | - | Yes | BCG adenitis | Left axillary | - | - | - | ATT for 9 m | Dead |
| F4_P4 | IL12RB1 | c.962C>A | F | 6 m | - | Yes | BCGosis | Left axillary, mandibular, abdomen | Yes | - | Salmonella choleraesuis | ATT twice for 9 ma | Dead |
| F5_P5 | IL12RB1 | c.962C>A | M | 3 m | - | Yes | BCGosis | Left axillary, cervical, lungs, sepsis | Yes | - | Candida spp. | ATT | Dead |
| F6_P6 | IL12RB1 | c.1791+2T>G | M | 3 m | - | No | BCG adenitis | Left axillary, submandibular, oral candidiasis | Yes | Yes | Candida spp. | ATT for 1 y | Lost to follow-up |
| F7_P7a | IL12RB1 | c. 982delC/c. 982delC | M | 2.4 m | 25 y | Yes | BCGosis | Left axillary, lungs, IBD | Yes | - | H. capsulatum, G. lamblia | ATT thrice for 9 m, amphotericin B, i.v. antibiotics | Alive |
| F8_P8a | IL12RB1 | c.1791+2T>G | F | 6 m | - | Yes | BCG adenitis | Left axillary, cervical, and inguinal | - | - | - | ATT | Dead |
| F8_P8b | IL12RB1 | c.1791+2T>G | F | 3 m | 7 y | Yes | BCG adenitis | Left axillary | - | - | - | ATT for 2 years | Alive |
| F9_P9 | IL12RB1 | c.962C>A | M | 7 m | - | Yes | BCG adenitis | Left axillary, abdominal, cholangitis | - | - | - | ATT twice | Dead |
| F10_P10 | IL12RB1 | c.(1327+1_1328-1)_(1483+1_1484-1)del | M | 5 m | 5.5 y | No | BCG adenitis | Left axillary | - | - | - | ATT for 9 m | Alive |
| F11_P11 | IL12RB1 | c.962C>A | F | 3 m | - | Yes | BCG adenitis | Left axillary | - | - | - | ATT for 9 m | Dead |
| F12_P12 | IL12RB1 | c.493C>T | M | 6 y | - | Yes | No | Left axillary, cervical, skin, chest wall abscess | Yes | Yes | - | MDR ATT for 18 m, clarithromycin | Dead |
| F13_P13 | IL12RB1 | c.632G>C | F | 4.5 m | - | Yes | BCGosis | Left axillary, GI tract, Skin | Yes | - | - | ATT for 9 m | Dead |
| F14_P14 | IL12RB1 | c.995G>A | M | 10 m | - | NA | BCGosis | Left axillary, abdomen | Yes | - | - | First-line and second-line ATT | Dead |
| F15_P15 | IL12RB1 | c.587G>T | M | 3 m | 10.5 y | Yes | BCG adenitis | Left axillary, skin, liver, spleen | Yes | - | - | Sirolimus | Alive |
| F16_P16 | IL12RB1 | c.962C>A | M | 3.6 m | 15 y | NA | BCGosis | Left axillary, inguinal, cervical, abdominal, liver abscess, brain | Yes | - | - | Multiple ATT | Alive |
| F17_P17a | IL12RB1 | c.599del | F | 7 m | 14 y | No | BCG adenitis | Left axillary, kidney | - | - | - | ATT | Alive |
| F18_P18 | IL12RB1 | c.1242C>G | M | 4 m | - | Yes | BCGosis | Left axillary, cervical, and inguinal, liver, spleen | - | - | - | | Dead |
| F19_P19 | IL12RB1 | c.1791+2T>G | M | 4 m | 13.5 y | Yes | BCG adenitis | Left axillary, perihilar, skin rash | - | - | Salmonella enterica | i.v. antibiotics | Alive |
| F7_P7b | IL12RB1 | c. 982delC/c. 982delC | M | 4 m | - | Yes | BCG adenitis | Left axillary, cervical, skin rash | - | - | - | ATT | Lost to follow-up |
| F17_P17b | IL12RB1 | c.599del | F | 7 m | 19 y | No | BCGosis | Left axillary, cervical, liver, spleen, skin | - | - | - | First-line (6 m) and second-line (1 year) ATT, oral ATT (6 m) | Alive |
| F20_P20 | IL12RB1 | chr19:g.(18083492_18086759)_(18086933_18098754)del | F | 3 m | 4 y | No | BCGosis | Left axillary, cervical, and inguinal, liver, spleen | - | - | - | ATT | Alive |
| F21_P21 | IL12RB1 | c.1791+2T>G | M | 3 m | 2.5 y | No | BCG adenitis | Left axillary | - | Yes | - | ATT, i.v. antibiotics, IVIG | Alive |
| F22_P22a | IL12RB1 | c.587G>T | M | 1 y | - | NA | BCG adenitis | Left axillary | - | - | - | ATT | Lost to follow-up |
| F22_P22b | IL12RB1 | c.587G>T | F | 1 y | - | NA | BCG adenitis | Left axillary, inguinal | - | - | - | ATT | Lost to follow-up |
| F23_P23 | IL12RB1 | c.494del | M | 5 y | 14 y | Yes | BCG adenitis | Left axillary, cervical, mediastinal, inguinal, abdominal, retroperitoneal, lungs | Yes | - | Nontyphoidal Salmonella, Nocardia spp. | ATT, cephalosporin, fluconazole, IFN-α | Alive |
| F24_P24 | IL12RB1 | c.1189+1del | F | 3 m | 2 y | Yes | BCG adenitis | Left axillary | - | - | - | Amoxicillin, ATT 9 m | Alive |
| F25_P25 | IL12RB1 | c.515dup | M | 3 m | - | NA | BCG adenitis | Left axillary, oral thrush | - | - | Candida spp. | ATT | Lost to follow-up |
| F26_P26 | IL12RB1 | c.962C>A | M | 2 m | 5 y | No | BCG adenitis | Left axillary, cervical, lungs | - | - | | ATT | Alive |
| F44_P44 | IL12B | c.429G>A | M | 3 m | 27 y | Yes | BCGosis | Liver, spleen | - | - | - | ATT thrice | Alive |
F, Female; FTT, failure to thrive; IVIG, intravenous immunoglobulin; M, male; m, months; y, years; NA, not available.
refers to patients who received two separate courses of ATT, each lasting 9 months.