Table 4. Flow cytometry and genetic test findings of X-linked chronic granulomatous diseases patients (n = 11) and leukocyte adhesion deficiency patients (n = 3).
| Patient | Sex | Age | FCM | Genetic test | |||||
|---|---|---|---|---|---|---|---|---|---|
| Disease specific targets | Patient (MFI ratio* or %†) | Control (MFI ratio or %) | Gene | Mutation | Amino acid | Inheritance | |||
| 1 | M | 4 mon | DHR | 1.3 | 130.2 | CYBB | c.1078_1080delinsAA | p.Asp360Asnfs*26 | XLR |
| 2 | M | 3 yr | DHR | 1.5 | 101.0 | CYBB | c.1133A > G | p.Asp378Gly | XLR |
| 3 | M | 7 yr | DHR | 1.11 | 35.7 | CYBB | c.176G > A | Ala55Asp | XLR |
| 4 | M | 5 yr | DHR | 1.3 | 98.1 | CYBB | c.897 + 2T > C | Exon 8skipping | XLR |
| 5 | M | 19 yr | DHR | 1.1 | 156.9 | CYBB | Outside‡ | Not known | XLR |
| 6 | M | 20 yr | DHR | 1.3 | 72.6 | CYBB | Outside‡ | Not known | XLR |
| 7 | M | 6 yr | DHR | 1.53 | 18.8 | NT | NT | NT | NT |
| 8 | M | 13 yr | DHR | 0.6 | 99.9 | NT | NT | NT | NT |
| 9 | M | 5 yr | DHR | 0.9 | 49.0 | NT | NT | NT | NT |
| 10 | M | 6 yr | DHR | 1.1 | 391.6 | NT | NT | NT | NT |
| 11 | M | 23 yr | DHR | 1.4 | 420.0 | NT | NT | NT | NT |
| 12 | F | 2 yr | CD18/CD11 | 0.0 | 99.9 | ITGB2 | c.533C > T | p.Pro178Leu | AR |
| 13 | F | 6 yr | CD18/CD11 | 0.0 | 100.0 | ITGB2 | c.533C > T | p.Pro178Leu | AR |
| c.82_95del14 | p.Phe28Leufs*26 | ||||||||
| 14 | F | 2 mon | CD18/CD11 | 0.0 | 99.5 | NT | NT | NT | NT |
FCM, flow cytometry; AR, autosomal recessive; Control, healthy control; DHR, dihydrorhodamine; CD, cluster of differentiation; F, female; M, male; NT, not tested; XLR, X-linked recessive; MFI, median fluorescence intensity.
*MFI ratio: median MFI of stimulated DHR test/median MFI of unstimulated DHR test; †The result of CD18/CD11 is presented as a percentage (%); ‡Outside means that the genetic tests had been performed in referred hospital and the detailed information of genetic tests were not provided.