Table 1 |.
Patient characteristics
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
| Mutation | c.1887_1888delCT | c.2170_2171delCA | c.2170_2171delCA | c.2170_2171delCA |
| p.Cys630LeufsTer19 | p.Gln724ValfsTer105 | p.Gln724ValfsTer105 | p.Gln724ValfsTer105 | |
| Zygosity | Homozygous | Homozygous | Homozygous | Homozygous |
| Age, sex | 8, M | 8, M | 4, F | 1, M |
| Recurrent infections | Sinopulmonary otitis media | Upper respiratory tract | Upper respiratory tract | Sepsis colitis |
| Skin rash | Eczema at onset | No | No | Eczema at onset |
| Lymphadenopathy | No | No | No | No |
| Hepatosplenomegaly | Mild | No | No | Mild at presentation |
| Autoantibodies | Negative | N/A | N/A | Negative |
| HIES score | 27 | N/A | N/A | N/A |
| Thorax CT | Pneumatoceles bilateral infiltrates | Normal | Normal | Normal |
| PPD and TB culture | Negative | N/A | N/A | N/A |
| DHR test | Normal | Normal | Normal | Normal |
| Neutrophils (no. per μl) (1,400–6,200) | 2,500 | 3,600 | 2,100 | 3,700 |
| Monocytes (no. per μl) (0–700) | 400 | 900 | 400 | 900 |
| Eosinophils (no. per μl) (0–700) | 140 | 710 | 290 | 360 |
| Lymphocytes (no. per μl) (1,200–3,100) | 2,100 | 3,400 | 4,100 | 7,700 |
| Hgb (gl−1) (12–17) | 11.7 | 11.3 | 12.2 | 10.1 |
| Plt (104 per μl) | 233 | 385 | 408 | 458 |
| CD3+ T cells | 70 (55–88) | 74 (55–86) | 69 (57–82) | 61 (51–82) |
| CD4+ T cells | 34 (24–51) | 38 (24–51) | 46 (25–55) | 31 (32–60) |
| Naive (CD45RA+) | 61 (42–82) | 42 (42–82) | 50 (55–85) | 69 (52–97) |
| Memory (CD45RO+) | 39 (27–59) | 57 (27–59) | 50 (15–46) | 28 (8–37) |
| CD8+ T cells | 33 (17–43) | 31 (17–42) | 21 (14–38) | 31 (12–30) |
| Naive (CD45RA+) | 63 (40–94) | 69 (40–94) | 59 (46–100) | 74 (48–111) |
| Memory (CD45RA−) | 35 (11–78) | 30 (11–78) | 39 (10–45) | 24 (5–58) |
| CD19+ B cells | 17 (7–23) | 10 (7–23) | 12 (10–31) | 32 (11–40) |
| Naive (IgD+CD27−) | 68 (6–91) | 70 (6–91) | 62 (54–94) | 90 (80–98) |
| Memory (IgD−CD27+) | 14 (7–31) | 9 (7–31) | 17 (3–32) | 2 (1–9) |
| CD16−CD56+ NK cells | 16 (4–29) | 13 (4–29) | 12 (3–29) | 3.6 (2–28) |
| IgG | 1031–1,180 (454–1,360) | 656 (764–2,134) | 936 (745–1,804) | 200–683 (463–1,006) |
| IgM | 87–111 (38–251) | 72 (69–387) | 155 (78–261) | 129–111 (46–159) |
| IgA | 200–245 (34–305) | 164 (78–383) | 203 (57–282) | <0.06 (17–69) |
| IgE | 622–3156 (2–307) | 80 (0–215) | 50 (0–215) | 9 (2–34) |
Numeric patient data show range at 2 and 6 yr old. Age-matched references are in parentheses. M, male; F, female; N/A, not applicable; CT, computed tomography; PPD, purified protein derivative; TB, tuberculosis; DHR, dihydrorhodamine; Hgb, hemoglobin; Plt, platelets.