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Table 2 Clinical laboratory results in twin females with PD

From: Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins

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

  1. 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
  2. aThrombocytopenia reported in literature [1]
  3. bIncreased serum IgE levels reported in literature [3]
  4. cHypergammaglobulinemia reported in literature [2]
  5. dMean ± 2SD, n = 6 healthy donors
  6. eHypocomplementemia (C3 and C4) reported in literature [3]
  7. 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]
  8. gNot determined due to high TGA
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