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Table 2 Immunologic characteristics of the patient with hypomorphic/atypical X-linked severe combined immunodeficiency

From: IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

Parameters

2004a (5 years)

2010a, b (8 years)

2011c (9 years)

2012 (10 years)

Normal range

White blood cells (× 103 cells/µL)

17↑

15↑

6.5

7.2

5.0–13.0

Absolute number of lymphocytes (× 103 cells/µL)

4.8

1.9

1.3↓

1.3↓

1.5–6.5

Absolute number of neutrophils (× 103 cells/µL)

11↑

12↑

4.4

4.7

2.0–8.4

Absolute number of monocytes (cells/µL)

760

900↑

700

700

200–800

Absolute CD3+ (cells/µL)

100↓

270↓

310↓

800–3500

Absolute CD3+CD4+ (cells/µL)

60↓

140↓

150↓

300–2000

Absolute CD3+CD8+ (cells/µL)

40↓

120↓

130↓

300–1800

CD4/CD8 ratio

1.5

1.1

1.1

0.9–2.6

Absolute CD19+ (cells/µL)

100↓

240

360

200–600

Absolute CD16/56+ (cells/µL)

890

690

1040

70–1200

IgG (mg/dL)

1150

1050

1130

610–1450

IgG1 (mg/dL)

711

350–910

IgG2 (mg/dL)

165

85–330

IgG3 (mg/dL)

146

20–104

IgA (mg/dL)

127

NI

77

70–365

IgM (mg/dL)

115

NI

85

24–210

  1. NI Not investigated
  2. aMeasurement at the time of an acute infection
  3. bIgG were measured before receiving subcutaneous IgG replacement therapy
  4. cIgG subclasses values were measured after 1 month withdrawal of subcutaneous IgG replacement therapy at the age of 9