Laboratory measurements on 3 STK4-deficient patients
| . | Normal range . | P1 . | P2 . | P3 . |
|---|---|---|---|---|
| WBC count, /μL | 4000-11 000 | 750-4430 | 1400-3340 | 3400-7550 |
| ALC, /μL | 1500-4000 | 266-821 | 420-1264 | 944-4806 |
| ANC, /μL | 1500-7000 | 225-1705 | 183-2023 | 1064-4310 |
| CD3+ cells, /μL | 1400-2100 | 177 | 253 | 3374 |
| CD4+ cells, /μL | 700-1100 | 120 | 132 | 357 |
| CD8+ cells, /μL | 600-900 | 86 | 156 | 3056 |
| CD19+ cells, /μL | 300-500 | 57 | 42 | 278 |
| CD56+ cells, | 200-300 | 49 | 153 | 1469 |
| IgG, g/L | 7-16* | 27.1 | 15.2 | 50.6 |
| IgM, g/L | 0.4-2.3* | 0.22 | 0.18 | 1.17 |
| IgA, g/L | 0.7-4* | 3.14 | 6.24 | 26.4 |
| IgE, IE/mL | 1-100 | 366 | 3640 | 135 |
| Thyroglobulin antibodies, U/mL | 40 | 71 | 65 | − |
| Rheumatoid factor, IE/mL | < 15.9 | 60.1 | − | 2940 |
| Antierythrocytes | − | − | − | ++ |
| Antigranulocytes | − | (+)† | − | − |
| . | Normal range . | P1 . | P2 . | P3 . |
|---|---|---|---|---|
| WBC count, /μL | 4000-11 000 | 750-4430 | 1400-3340 | 3400-7550 |
| ALC, /μL | 1500-4000 | 266-821 | 420-1264 | 944-4806 |
| ANC, /μL | 1500-7000 | 225-1705 | 183-2023 | 1064-4310 |
| CD3+ cells, /μL | 1400-2100 | 177 | 253 | 3374 |
| CD4+ cells, /μL | 700-1100 | 120 | 132 | 357 |
| CD8+ cells, /μL | 600-900 | 86 | 156 | 3056 |
| CD19+ cells, /μL | 300-500 | 57 | 42 | 278 |
| CD56+ cells, | 200-300 | 49 | 153 | 1469 |
| IgG, g/L | 7-16* | 27.1 | 15.2 | 50.6 |
| IgM, g/L | 0.4-2.3* | 0.22 | 0.18 | 1.17 |
| IgA, g/L | 0.7-4* | 3.14 | 6.24 | 26.4 |
| IgE, IE/mL | 1-100 | 366 | 3640 | 135 |
| Thyroglobulin antibodies, U/mL | 40 | 71 | 65 | − |
| Rheumatoid factor, IE/mL | < 15.9 | 60.1 | − | 2940 |
| Antierythrocytes | − | − | − | ++ |
| Antigranulocytes | − | (+)† | − | − |
Single measurements were done in 2010. Ranges reflect a time series of measurements shown in supplemental Table 1.
WBC indicates white blood cells; ALC, absolute lymphocyte count; and ANC, absolute neutrophil count.
Normal Ig ranges shown are for P1 and P2, who are adults; for P3, age-appropriate normal ranges for 9 years are as follows: IgG (5.2-12.9 g/L), IgM (0.37-1.6 g/L), and IgA (0.47-2.1 g/L).
Using a granulocyte-immunofluorescence test, 1 of 4 test cells stained weakly positive. However, neither a granulocyte agglutination assay nor a glycoprotein-specific immunoassay against CD16b, HN1a, and HN1b was positive.