Table 6. Flow cytometry and genetic test findings of CTLA4 mutation patients (n = 3), PIK3CD mutation patients (n = 2) and undetermined common variable immune deficiency patients (n = 3).
| Patient | Sex | Age (yr) | FCM | Genetic test | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CD3+ T cells | CD19+ B cells | CD16/56+ NK cells | FOXP3+ CD4+ cells | Gene | Mutation | Amino acid | Inheritance | |||||||
| Count (/µL) | % | Count (/µL) | % | Count (/µL) | % | Count (/µL) | % | |||||||
| 1 | F | 24 | 2,020 | 81 | 110 | 4 | 200 | 8 | 10.61 | 1.8 | CTLA4 | c.406C > T | p.Pro136Ser | AD |
| 2 | F | 13 | 840 | 87 | 30 | 3 | 100 | 10 | NT | NT | CTLA4 | c.406C > T | p.Pro136Ser | AD |
| 3 | F | 58 | 1,203 | 59 | 243 | 12 | 552 | 27 | NT | NT | CTLA4 | c.406C > T | p.Pro136Ser | AD |
| 4 | F | 10 | 549 | 70 | 110 | 14 | 110 | 14 | NT | NT | PIK3CD | c.3061G > A | p.Glu1021Lys | AD |
| 5 | M | 2 | 2,320 | 68 | 341 | 10 | 682 | 20 | NT | NT | PIK3CD | c.3061G > A | p.Glu1021Lys | AD |
| 6 | F | 32 | 1,942 | 88 | 0 | 0 | 88 | 4 | NT | NT | NT | NT | NT | Unknown |
| 7 | M | 3 | 3,239 | 91 | 71 | 2 | 178 | 5 | NT | NT | NT | NT | NT | Unknown |
| 8 | F | 5 | 2,501 | 66 | 344 | 9 | 764 | 20 | NT | NT | NT | NT | NT | Unknown |
FCM, flow cytometry; CD, cluster of differentiation; NK, natural killer; AD, autosomal dominant; F, female; M, male; NT, not test.