Table 3.
The cohort's clinical and genetic characteristics.
| Patient no. | Province | CGD diagnosis | Mutation | Amino acid change | SI | BCG diagnosis | Other infections | Anti-BCG treatment | Follow-up |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Zhejiang | Genetic | CYBA∧ | Probable | Epstein-Barr virus | HELfx | Alive (stopped anti-BCG treatment) | ||
| 2 | Hubei | DHR/genetic | NCF2 c.304C>T (22) | p.(Arg102*) | 2.13 | Definite | – | HRZE | Deceased |
| 3 | Henan | DHR/genetic | CYBB c.466G>A (22) | p.(Ala156Thr) | 18 | Definite | Pseudomonas putida, Klebsiella pneumoniae | EAmkLzd | Deceased |
| 4 | Henan | Genetic | CYBB c.1514T>C (23) | p.(Leu505Pro) | Definite | Aspergillus spp., Epstein-Barr virus | HRZE | Deceased | |
| 5 | Zhejiang | DHR/genetic | CYBB #c.277C>T | p.(Gln93*) | 2.2 | Definite | Mumps virus | HRE | Deceased |
| 6 | Jiangsu | DHR/genetic | CYBB #c.337_338del | del exon 5? p.(Ala113fs)? | 2.43 | Definite | Fungal | HRE | Alive (stopped anti-BCG treatment) |
| 7 | Fujian | Genetic | CYBB c.935T>A (13) | p.(Met312Lys) | Definite | – | HR | Alive (continuing anti-BCG treatment) | |
| 8 | Henan | DHR/genetic | CYBB #c.1150_1151del | del exon 9? p.(Lys384fs)? | 1.56 | Probable | Klebsiella pneumoniae | HERLzd | Deceased |
| 9 | Zhejiang | DHR/genetic | CYBB #c.1151+1_1151+2del | del exon 9? | 4.54 | Highly probable | – | HRE | Deceased |
| 10 | Fujian | DHR/genetic | CYBB c.1082G>T (24) | p.(Trp361Leu) | 3.38 | Highly probable | Aspergillus terreus, Cellulomonas spp. | ClrEMfx | Deceased |
| 11 | Shanghai | DHR/genetic | CYBB∧ | 2.79 | Highly probable | HRE | Alive (stopped anti-BCG treatment) | ||
| 12 | Anhui | DHR/genetic | CYBB∧ | 18.4 | Highly probable | Staphylococcus aureus, G+ cocci, G– cocci | HRE | Unkown | |
| 13 | Anhui | DHR/genetic | CYBB c.1499A>G (25) | p.(Asp500Gly) | 8.84 | Highly probable | Enterococcus faecium, Klebsiella pneumoniae, Escherichia coli | HELfx | Deceased |
| 14 | Fujian | DHR/genetic | CYBB∧ | 11 | Probable | Salmonella typhimurium | HRZ | Alive (stopped anti-BCG treatment) | |
| 15 | Henan | Genetic | NCF1 #c.269G>A; #c.761_798del | p.(Arg90His) p.(Val255fs) | Highly probable | – | HREPto | Alive (stopped anti-BCG treatment) | |
| 16 | Jilin | DHR/genetic | CYBB c.1095del (26) | p.(Phe366fs) | 2.3 | Probable | – | HR | Alive (continuing anti-BCG treatment) |
| 17 | Jiangsu | DHR/genetic | CYBB∧ | 1.9 | Highly probable | – | HR | Alive (continuing anti-BCG treatment) | |
| 18 | Jiangxi | DHR/genetic | CYBB∧ | 1.5 | Probable | G+ cocci | HERft | Alive (continuing anti-BCG treatment) | |
| 19 | Hunan | DHR | N/A | 2.31 | Highly probable | Candida spp. | ELzdAmkPas | Deceased | |
| 20 | Hunan | DHR/genetic | CYBB c.1082G>T (24) | p.(Trp361Leu) | 2.85 | Definite | Mycobacterium chelonae subsp. M. abscessus; M. intracellulare; M. tuberculosis | HR | Deceased |
| 21 | Zhejiang | Genetic | CYBB∧ | Probable | – | HR | Unknown | ||
| 22 | Jiangsu | Genetic | CYBB c.1085C>T (26) | p.(Thr362Ile) | Probable | Staphylococcus epidermidis | HRE | Alive (continuing anti-BCG treatment) | |
| 23 | Jiangsu | DHR/genetic | CYBB c.1165G>A (26) | p.(Gly389Arg) | 4.15 | Probable | – | HRE | Alive (stopped anti-BCG treatment) |
∧
The mutation was noted on the clinical report without site specifications.
#
Novel mutation site.
?
Amino acid change predicted at splice sites.
*
Designates a translation termination codon. DHR, dihydrorhodamine; BCG, Bacillus Calmette-Guérin; CYBB, the beta chain of cytochrome b; CYBA, the alpha chain of cytochrome b; NCF1, neutrophil cytosolic factor 1; NCF2, neutrophil cytosolic factor 2; H, isoniazid; R, rifampicin; Z, pyrazinamide; E, ethambutol; Lfx, levofloxacin; Amk, amikacin; Lzd, linezolid; Pas, para-aminosalicylic acid; Mfx, moxifloxacin; Pto, protionamide; Rft, rifapentine.