Table 5. Flow cytometry and genetic test findings of AR-chronic granulomatous disease patients (n = 2), autosomal dominant hyper-IgE syndrome (n = 1) and STAT1 mutation (n = 1).
| Patient | Sex | Age (yr) | FCM | Genetic test | |||||
|---|---|---|---|---|---|---|---|---|---|
| Disease specific targets | Patient (MFI ratio* or %†) | Control (MFI ratio or %) | Gene | Mutation | Amino acid | Inheritance | |||
| 1 | F | 1 | DHR | 68* | 126 | NCF1 | Outside‡ | Not known | AR |
| 2 | M | 10 | DHR | 88* | 310 | CYBA | c.385G > A | p.Glu129Lys | AR |
| 3 | F | 6 | IL-17 | 0.01† | 2.36 | STAT3 | c.1144C > T | p.Arg382Trp | AD |
| 4 | F | 24 | pSTAT1 | 3.4† | 1.4 | STAT1 | c.800C > T | p.Ala267Val | AD |
FCM, flow cytometry; AD, autosomal dominant; AR, autosomal recessive; Control, healthy control; DHR, dihydrorhodamine; IL, interleukin; pSTAT1, phosphorylated signal transducer and activator of transcription 1; F, female; M, male; MFI, median fluorescence intensity.
*MFI ratio: median MFI of stimulated DHR test/median MFI of unstimulated DHR test; †The result of pSTAT1 and IL17 were presented in percent (%); ‡Outside means that the genetic tests had been performed in referred hospital and the detailed information of genetic tests were not provided.