Clinical manifestations in 4 patients with WHIM syndrome caused by missense mutation CXCR4E343K
| . | P1 . | P2 . | P3 . | P4 . | Normal range . |
|---|---|---|---|---|---|
| Age, y | 9 | 5 | 34 | 53 | NA |
| Sex | Male | Female | Female | Female | NA |
| Skin warts | + | − | + | − | NA |
| Genital warts | − | − | + | ? | NA |
| IgG, mg/dL | 694 | 791 | 705 | 725 | 572-1474 |
| IgA, mg/dL | 170 | 95 | 103 | 103 | 34-305 |
| IgM, mg/dL | 70 | 72 | 113 | 71 | 32-208 |
| IgE, IU/mL | 27 | 14 | 20 | 49 | 0-90 |
| WBCs, × 109/L | 2.57 | 3.39 | 3.07 | 2.93 | 4.31-11 |
| Neutrophils, × 109/L | 1.06 | 1.05 | 1.95 | 1.45 | 1.63-7.55 |
| Lymphocytes, × 109/L | 1.23 | 1.98 | 0.91 | 1.19 | 0.97-3.96 |
| Monocytes, × 109/L | 0.20 | 0.27 | 0.16 | 0.24 | 0.24-0.86 |
| Myelokathexis | + | Unknown | Unknown | Unknown | NA |
| Recurrent bacterial infections | + | + | + | − | NA |
| Recurrent yeast infections after antibiotics | − | + | − | − | NA |
| Hearing loss | + | + | − | − | NA |
| Delayed speech | + | + | − | − | NA |
| Infection despite vaccination | Influenza | Pneumococcal, influenza | Rubella | No | NA |
| . | P1 . | P2 . | P3 . | P4 . | Normal range . |
|---|---|---|---|---|---|
| Age, y | 9 | 5 | 34 | 53 | NA |
| Sex | Male | Female | Female | Female | NA |
| Skin warts | + | − | + | − | NA |
| Genital warts | − | − | + | ? | NA |
| IgG, mg/dL | 694 | 791 | 705 | 725 | 572-1474 |
| IgA, mg/dL | 170 | 95 | 103 | 103 | 34-305 |
| IgM, mg/dL | 70 | 72 | 113 | 71 | 32-208 |
| IgE, IU/mL | 27 | 14 | 20 | 49 | 0-90 |
| WBCs, × 109/L | 2.57 | 3.39 | 3.07 | 2.93 | 4.31-11 |
| Neutrophils, × 109/L | 1.06 | 1.05 | 1.95 | 1.45 | 1.63-7.55 |
| Lymphocytes, × 109/L | 1.23 | 1.98 | 0.91 | 1.19 | 0.97-3.96 |
| Monocytes, × 109/L | 0.20 | 0.27 | 0.16 | 0.24 | 0.24-0.86 |
| Myelokathexis | + | Unknown | Unknown | Unknown | NA |
| Recurrent bacterial infections | + | + | + | − | NA |
| Recurrent yeast infections after antibiotics | − | + | − | − | NA |
| Hearing loss | + | + | − | − | NA |
| Delayed speech | + | + | − | − | NA |
| Infection despite vaccination | Influenza | Pneumococcal, influenza | Rubella | No | NA |
All information shown is from the history, physical examination, and laboratory evaluation performed at the time of presentation to the National Institutes of Health.
NA indicates not applicable; +, present; and −, absent.