Table I.
Clinical Characteristics of complete CECR1 Deficiency and Her Kindred
| patientc | fathera | motherb | sisterd | sistere | sisterf | sisterg | brotherh | reference range | |
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| Clinical | |||||||||
|
| |||||||||
| Age (years) | 20 | 39 | 40 | 17 | 12 | 8 | 8 | 5 | |
| CECR1 status | −/− | +/− | +/− | +/− | +/− | +/− | +/− | +/− | +/+ |
|
| |||||||||
| infection | Fusarium proliferatum sinusitis | none | none | none | none | none | none | none | none |
|
| |||||||||
| vasculitis | no | no | no | no | no | no | no | no | no |
|
| |||||||||
| Lab | |||||||||
|
| |||||||||
| WBC | 0.7 ↓ | 3.6 ↓ | 6.8 | 4.2 | 6.8 | 5.1 | 4.8 | ND | 4.2–9.0 × 103 cells/μl |
|
| |||||||||
| ANC | 0 ↓ | 1.69 ↓ | 4 | 2.4 | 4.3 | 2.2 | 2.1 | ND | 1.7–5.3 × 103 cells/μl |
|
| |||||||||
| AMC | 0 ↓ | 0.22 ↓ | 0.43 | 0.24 ↓ | 0.41 | 0.26 ↓ | 0.12 ↓ | ND | 0.3–0.8 × 103 cells/μl |
|
| |||||||||
| Hb | 10.2 ↓ | 16.5 | 12.3 | 13.5 | 13.6 | 13.4 | 13.4 | ND | 11.2–15.7 g/dL |
|
| |||||||||
| platelets | 125 ↓ | 155 ↓ | 183 | 188 | 194 | 143 | 268 | ND | 173–369 × 103 cells/μl |
|
| |||||||||
| ABS CD19+ | 0 ↓ | 126 | 224 | 145 | 250 | 242 | 223 | ND | 61–321 cells/μl |
|
| |||||||||
| ABS NK(CD56+) | 32 ↓ | 140 | 213 | 175 | 426 | 416 | 488 | ND | 126–729 cells/μl |
|
| |||||||||
| ABS CD3+ | 645 ↓ | 1190 | 1860 | 939 | 1279 | 1887 | 1633 | ND | 714–2266 cells/μl |