Table 2.
Clinical laboratory results in twin females with PD
| Test | Patient 1 | Patient 2 | Normal range |
|---|---|---|---|
| Blood cell counts | |||
| White blood cells | 7.26 | 8.13 | 4.19–9.43 10e9/L |
| Neutrophils | 2.2 | 4.22 | 1.82–7.47 10e9/L |
| Lymphocytes | 4.09 (H) | 2.9 | 1.16–3.33 10e9/L |
| Monocytes | 0.73 (H) | 0.76 (H) | 0.19–0.72 10e9/L |
| Plateletsa | 118 (L) | 154 | 130–400 10e9/L |
| Mean platelet volume | 9.8 | 10.3 | 8–12 fL |
| Hemoglobin | 130 | 149 | 105–150 g/L |
| Immunoglobulins | |||
| IgA | 0.81 | 1.35 | 0.52–1.92 g/L |
| IgM | 0.63 | 1.07 | 0.47–3.11 g/L |
| IgEb | 423 | 568 | <629 kU/L |
| IgGc | 8.92 | 9.56 | 7–15.9 g/L |
| IgG1 | 5.77 | 7.54 | 3.15–8.55 g/L |
| IgG2 | 0.30 (L) | 0.65 | 0.64–4.95 g/L |
| IgG3 | 0.3 | 0.29 | 0.23–1.96 g/L |
| IgG4 | 0.158 | 0.384 | 0.11–1.57 g/L |
| Specific antibody titers to diphtheria, tetanus, pneumococcal, rubella, varicella, and measles vaccine antigens | Good, sustained, protective antibody titers to vaccines except borderline measles IgG response | Good, sustained, protective antibody titers to all vaccines | |
| B cell proliferation (% of CpG-stimulated cells divided) | 68.1% | 65.0% | 63.2–100%d |
| T cell proliferation: mitogen and antigen stimulation of PBMCs by PHA, ConA, PWM, anti-CD3, anti-CD3 + IL-2, IL-2, tetanus toxoid, diphtheria toxoid, and Candida albicans antigens | Normal lymphocyte proliferation to all mitogens and antigens tested | Normal lymphocyte proliferation to all mitogens and antigens tested | |
| NK cell function | |||
| NK cell cytotoxicity (NK cell killing activity) | Normal | Normal | |
| Degranulation (CD107a+) | 27% | 22% | 11–35% |
| Neutrophils NBT reduction | Normal oxidative burst of 99% | Normal oxidative burst of 100% | |
| Complement | |||
| CH50 classical | 93 | 70 | 42–96 U/mL |
| C3e | 1.54 | 1.63 | 1.1–1.8 g/L |
| C4e | 0.26 | 0.24 | 0.17–0.39 g/L |
| MBL | 0 (L) | 0 (L) | 30–200% |
| Alternate complement | 119 | 107 | >40% |
| Inflammatory markers | |||
| ESR | 18 (H) | 2 | 0–9 mm/h |
| CRP | 24.6 (H) | 6 (H) | 0–5.0 mg/L |
| Ferritin | 400 (H) | 2006 (H) | 5.5–67 mcg/L |
| IL-18 | > 36,600 (H) | 28,803 (H) | <266 pg/mL |
| SAA | 9837 | 8511 | ng/mL, within 30–70% of normal |
| Auto-antibodiesf | |||
| ANA | ANA IIF + (1:320, speckled pattern) | All negative | |
| ENA, anti-TTG-IgA, anti-cardiolipin, anti-B2GP1, LA, ASMA, APCP, anti-LKM, anti-PR3, anti-MPO, anti-CCP, RF, anti-TPO | anti-TPO + | ||
| Lipid profile | |||
| LDL | NDg | 3.08 |
Acceptable<2.85 H>3.36 mmol/L |
| HDL | 0.79 (L) | 1.2 | Acceptable>1.17 mmol/L |
| TGA | 6.1 (H) | 2.21 (H) |
Acceptable<1.02 H>1.46 mmol/L |
| Cholesterol | 6.86 (H) | 5.28 (H) |
Acceptable<4.40 H>5 mmol/L |
L, low; H, high; PHA, phytohemagglutinin; ConA, concanavalin A; PWM, pokeweed mitogen; NK, natural killer cells; MBL, mannose-binding lectin; ESR, erythrocyte sedimentation rate; CRP, C-reactive protein; SAA, serum amyloid A; pc, percentile; ANA, antinuclear antibodies; ENA, extractable nuclear antigen antibodies; SS-A/B, Sjögren's-syndrome-related antigen A/B autoantibodies; anti-TTG-IgA, anti-tissue transglutaminase IgA antibodies; anti-B2GP1, anti-beta-2-glycoproteins antibodies; ASMA, anti-smooth muscle antibodies; ACPA, anti-citrullinated protein antibodies; anti-LKM, anti-liver-kidney-muscle antibodies; anti-MPO, anti-myeloperoxidase antibodies; anti-CCP, anti-cyclic citrullinated peptide antibodies; RF, rheumatoid factor; anti-TPO, anti-thyroid peroxidase antibodies; LDL, low-density lipoprotein; HDL, high-density lipoprotein; TGA, triglycerides
aThrombocytopenia reported in literature [1]
bIncreased serum IgE levels reported in literature [3]
cHypergammaglobulinemia reported in literature [2]
dMean ± 2SD, n = 6 healthy donors
eHypocomplementemia (C3 and C4) reported in literature [3]
fPositive ANA, anti-dsDNA, anti-ENA (anti-Ro), anti-Sm, and anti-chromatin have been found in individuals with prolidase deficiency even in the absence of clinical findings of SLE [2]
gNot determined due to high TGA