Clinical laboratory findings for the patient with TBK1 deficiency
| Laboratory parameters . | Result (normal range) . | After HSCT . |
|---|---|---|
| Hemogram | ||
| Leukocytes (cells/μl) | 18,000 (5,430–13,470) | 5,270 |
| Neutrophils (cells/μl) | 6,600 (1,470–6,280) | 3,540 |
| Lymphocytes (cells/μl) | 9,050 (1,860–7,320) | 1,160 |
| Monocytes (cells/μl) | 1,190 (310–1020) | 510 |
| Eosinophils (cells/μl) | 996 (50–740) | 60 |
| Basophils (cells/μl) | 58 (10–50) | 0 |
| Hemoglobin (g/L) | 9.2 (11.6–14.6) | 12.4 |
| Platelets (cells/μl) | 691,000 (206,400–434,300) | 145,000 |
| Immunoglobulin levels | ||
| IgG (mg/dl) | 752 (294–1165) | 708 |
| IgM (mg/dl) | 231 (33–154) | 155 |
| IgA (mg/dl) | 57 (13.5–72) | 61 |
| Total IgE (IU/ml) | 7 | 9 |
| Lymphocyte immunophenotype | ||
| CD3+ % | 52.5 (52–77) | 51.2 |
| CD3+ (cells/μl) | 4,751 (1,850–5,960) | 594 |
| CD4+ % | 41.3 (30–58) | 33 |
| CD4+ (cells/μl) | 3,730 (1,140–3,800) | 383 |
| CD8+ % | 8.9 (12–27) | 8.1 |
| CD8+ (cells/μl) | 805 (540–1970) | 94 |
| CD4+/CD8+ | 4.6 (1.9–2.1) | 4.07 |
| HLA DR | 35.5 (4–27) | 32 |
| CD19+ % | 34.1 (15–28) | 21.2 |
| CD19+ (cells/µl) | 3,086 (640–1,960) | 246 |
| CD3−CD16+CD56+ % | 13.1 (3–24) | 9.9 |
| CD3−CD16+CD56+ (cells/μl) | 1,185 (150–1,330) | 115 |
| CD19+IgD−CD27+ % | 0.2 (1.1–20.3) | 0.9 |
| CD19+IgD−CD27+ (cells/µl) | 6 (6.2–81.2) | 1 |
| CD19+IgD+CD27− % | 31.2 (57.4–92.1) | 28.9 |
| CD19+IgD+CD27− (cells/µl) | 962 (139.2–1,127.1) | 33 |
| CD3+CD4+ (41.2%) gate | ||
| CD45RA %/(MFI) | 91.1 (64–93)/(1,927.97) | - |
| CD45RO %/(MFI) | 7.5 (5–18)/(7,246.01) | - |
| Antibody level | ||
| Anti-HbS (IU/ml) | >1,000 | - |
| Acute-phase reactants | ||
| CRP (mg/dl) | 27.7 (0–0.5) | 0.27 |
| Sedimentation (mm/h) | 17 | 14 |
| Serum amyloid A concentration (mg/L) | 14.6 (0–6.8) | 0.5 |
| Other | ||
| NBT % | 96 | - |
| EBV VCA IGM (U/ml) | Negative | - |
| EBV VCA IGG (U/ml) | 60.1 (positive) (cutoff: 18) | - |
| EBV EBNA IGG (U/ml) | 20.4 (positive) (cutoff: 18) | - |
| EBV PCR | Negative | - |
| CMV IGM (U/ml) | Negative | - |
| CMV IGM (U/ml) | 31 (positive) (cutoff: 5.99) | |
| CMV-DNA PCR | Negative | - |
| HSV-1 IgG (serum) (U/ml) | 69 (positive) (cutoff: 1.10) | - |
| HSV-2 (serum) (U/ml) | Negative | - |
| Varicella IgM (U/mM) | Negative | - |
| Varicella IgG (U/ml) | 1,249 (positive) (cutoff: 165) | - |
| HIV Ag/Ab | Negative | - |
| Anti-HCV | Negative | - |
| ANA (antinuclear antibodies) | Negative | - |
| ANA panel | Negative | - |
| Anti LKM-1 | Negative | - |
| Anti-dsDNA | Negative | - |
| AMA-M2 | Negative | - |
| ASMA | Negative | - |
| ANCA panel | Negative | - |
| p-ANCA | Negative | - |
| Anti-tissue transglutaminase IgA (U/ml) | 0.8 (<10 normal) | |
| Anti-tissue transglutaminase IgG (U/ml) | 1.9 (<10 normal) | - |
| Sweat chloride test (mmol/L) | 22.3 (<40 normal) | - |
| Laboratory parameters . | Result (normal range) . | After HSCT . |
|---|---|---|
| Hemogram | ||
| Leukocytes (cells/μl) | 18,000 (5,430–13,470) | 5,270 |
| Neutrophils (cells/μl) | 6,600 (1,470–6,280) | 3,540 |
| Lymphocytes (cells/μl) | 9,050 (1,860–7,320) | 1,160 |
| Monocytes (cells/μl) | 1,190 (310–1020) | 510 |
| Eosinophils (cells/μl) | 996 (50–740) | 60 |
| Basophils (cells/μl) | 58 (10–50) | 0 |
| Hemoglobin (g/L) | 9.2 (11.6–14.6) | 12.4 |
| Platelets (cells/μl) | 691,000 (206,400–434,300) | 145,000 |
| Immunoglobulin levels | ||
| IgG (mg/dl) | 752 (294–1165) | 708 |
| IgM (mg/dl) | 231 (33–154) | 155 |
| IgA (mg/dl) | 57 (13.5–72) | 61 |
| Total IgE (IU/ml) | 7 | 9 |
| Lymphocyte immunophenotype | ||
| CD3+ % | 52.5 (52–77) | 51.2 |
| CD3+ (cells/μl) | 4,751 (1,850–5,960) | 594 |
| CD4+ % | 41.3 (30–58) | 33 |
| CD4+ (cells/μl) | 3,730 (1,140–3,800) | 383 |
| CD8+ % | 8.9 (12–27) | 8.1 |
| CD8+ (cells/μl) | 805 (540–1970) | 94 |
| CD4+/CD8+ | 4.6 (1.9–2.1) | 4.07 |
| HLA DR | 35.5 (4–27) | 32 |
| CD19+ % | 34.1 (15–28) | 21.2 |
| CD19+ (cells/µl) | 3,086 (640–1,960) | 246 |
| CD3−CD16+CD56+ % | 13.1 (3–24) | 9.9 |
| CD3−CD16+CD56+ (cells/μl) | 1,185 (150–1,330) | 115 |
| CD19+IgD−CD27+ % | 0.2 (1.1–20.3) | 0.9 |
| CD19+IgD−CD27+ (cells/µl) | 6 (6.2–81.2) | 1 |
| CD19+IgD+CD27− % | 31.2 (57.4–92.1) | 28.9 |
| CD19+IgD+CD27− (cells/µl) | 962 (139.2–1,127.1) | 33 |
| CD3+CD4+ (41.2%) gate | ||
| CD45RA %/(MFI) | 91.1 (64–93)/(1,927.97) | - |
| CD45RO %/(MFI) | 7.5 (5–18)/(7,246.01) | - |
| Antibody level | ||
| Anti-HbS (IU/ml) | >1,000 | - |
| Acute-phase reactants | ||
| CRP (mg/dl) | 27.7 (0–0.5) | 0.27 |
| Sedimentation (mm/h) | 17 | 14 |
| Serum amyloid A concentration (mg/L) | 14.6 (0–6.8) | 0.5 |
| Other | ||
| NBT % | 96 | - |
| EBV VCA IGM (U/ml) | Negative | - |
| EBV VCA IGG (U/ml) | 60.1 (positive) (cutoff: 18) | - |
| EBV EBNA IGG (U/ml) | 20.4 (positive) (cutoff: 18) | - |
| EBV PCR | Negative | - |
| CMV IGM (U/ml) | Negative | - |
| CMV IGM (U/ml) | 31 (positive) (cutoff: 5.99) | |
| CMV-DNA PCR | Negative | - |
| HSV-1 IgG (serum) (U/ml) | 69 (positive) (cutoff: 1.10) | - |
| HSV-2 (serum) (U/ml) | Negative | - |
| Varicella IgM (U/mM) | Negative | - |
| Varicella IgG (U/ml) | 1,249 (positive) (cutoff: 165) | - |
| HIV Ag/Ab | Negative | - |
| Anti-HCV | Negative | - |
| ANA (antinuclear antibodies) | Negative | - |
| ANA panel | Negative | - |
| Anti LKM-1 | Negative | - |
| Anti-dsDNA | Negative | - |
| AMA-M2 | Negative | - |
| ASMA | Negative | - |
| ANCA panel | Negative | - |
| p-ANCA | Negative | - |
| Anti-tissue transglutaminase IgA (U/ml) | 0.8 (<10 normal) | |
| Anti-tissue transglutaminase IgG (U/ml) | 1.9 (<10 normal) | - |
| Sweat chloride test (mmol/L) | 22.3 (<40 normal) | - |
HSCT, hematopoietic stem-cell transplantation; NBT, Nitroblue tetrazolium; dsDNA, double-stranded DNA; ASMA, anti-smooth muscle antibody; ANCA, antineutrophil cytoplasmic antibodies; VCA, Viral capsid antigen; HCV, Hepatitis C virus; EBNA, EBV nuclear antigen.