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Table 1 Summary of Laboratory Investigations in Two Siblings at the Time of Diagnosis

From: Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

Laboratory parameters

Patient 1 (age: 16 months)

Patient 2 (age: 12 months)

Reference value

WBC (cells/mm3)

5700

3900

6000–17000

Lymphocyte (cells/mm3)

1938

663

3000–9500

Neutrophil (cells/mm3)

1026

2496

1500–8500

Eosinophil (cells/mm3)

114

195

165–465

IgG (mg/dL)

849

875†

246–904

IgM (mg/dL)

256

44

40–143

IgA (mg/dL)

47

174

27–66

IgE (IU/mL)

475

170

Up to 68

Anti-D IgG (IU/mL)

 < 0.01

0.006

 < 0.1: No response

0.1–1: Poor response

˃1: Normal response

Anti-T IgG (IU/mL)

0.05

0.39

 < 0.1: No response

0.1–1: Poor response

˃1: Normal response

Plt (× 103 cells/mm3)

1091

738

150–450

CD3 + T cells (% of lymphocytes)

79%

30%

50–90

CD4 + T cells (% of lymphocytes)

12%

22%

20–65

CD8 + T cells (% of lymphocytes)

50%

2%

5–40

CD19 + B cells (% of lymphocytes)

2%

27.5%

3–40

CD16 + NK cells (% of lymphocytes)

15%

16.7%

3–15

CD56 + NK cells (% of lymphocytes)

19%

21%

3–15

NBT

100%

100%

 > 95

CRP

112

3

 < 10

LTT

 PHA

4.8

4.9

 ≥ 3

 BCG

1.1

1.4

 ≥ 2.5

 Candida

1.8

2.0

 ≥ 2.5

  1. Bold items indicate abnormal parameters according to the reference ranges for ages
  2. WBC white blood cell, Ig immunoglobulin, Anti-D anti-diphtheria, Anti-T anti-tetanus, Plt platelet, NK natural killer, CRP C-reactive protein, LTT lymphocyte transformation test, PHA phytohemagglutinin, BCG Bacillus Calmette-Guérin
  3. †While on exogenous immunoglobulin