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Table 3 Proliferation and specific antibody tests 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

Result

Year (age)

Normal range

CD4 PHA (c/µL)

293

2012 (10 years)

170–3499

CD8 PHA (c/µL)

16↓

2012 (10 years)

76–3640

CD4 ConA (c/µL)

616↓

2012 (10 years)

620–3800

CD8 ConA (c/µL)

44↓

2012 (10 years)

180–1757

CD4 PWM (c/µL)

241

2012 (10 years)

233–2189

CD8 PWM (c/µL)

15↓

2012 (10 years)

50–549

CD19 PWM (c/µL)

61

2012 (10 years)

42–741

CD4 Staph enterotoxin (c/µL)

1242

2012 (10 years)

553–7746

CD8 Staph enterotoxin (c/µL)

275

2012 (10 years)

123–2365

CD4 Influenza (c/µL)

136

2012 (10 years)

19–1050

CD8 Influenza (c/µL)

0↓

2012 (10 years)

5–2020

CD4 Tetanus toxin (c/µL)

0↓

2012 (10 years)

5–306

CD8 Tetanus toxin (c/µL)

0↓

2012 (10 years)

5–14

CD4 PPD (c/µL)

0↓

2012 (10 years)

11–14

CD8 PPD (c/µL)

0↓

2012 (10 years)

5–29

CD4 Candida (c/µL)

5↓

2012 (10 years)

51–1014

CD8 Candida (CD4, CD8)

0↓

2012 (10 years)

5–49

CD4 Pneumococcus (c/µL)

2↓

2012 (10 years)

5–269

CD8 Pneumococcus (c/µL)

0↓

2012 (10 years)

5–13

CD4 Varicella zoster (c/µL)

45

2012 (10 years)

5–157

CD8 Varicella zoster (c/µL)

4↓

2012 (10 years)

5–23

Anti diphtheria (IgG, IU/mL)

0.53

2010 (8 years)a

0.1–56.2

Anti tetanus (IgG, IU/mL)

1.4

2010 (8 years)a

0.09–12.87

Anti tetanus (IgG1, mg/L)

17

2010 (8 years)a

0.9–228.5

Anti Haemophilus influenzae B (IgG, mg/L)

1.5

2010 (8 years)a

0.15–29.5

Anti PPV–23 (IgG, mg/L)

45

2010 (8 years)a

9.2–22.5

Anti PPV–23 (IgG2, mg/L)

25

2010 (8 years)a

0.8–122.4

Anti CMV (IgG, EIA, titer)

21,000↑

2011 (9 years)a

0–300

Anti CMV (IgM, EIA, titer)

0

2011 (9 years)a

0–10

Anti EBV EBNA (IgG, EIA, U/mL)

10

2011 (9 years)a

0–20

Anti EBV VCA (IgM, EIA, titer)

17

2011 (9 years)a

0–25

Anti HSV (IgG, EIA, titer)

150

2011 (9 years)a

0–230

Anti VZV (IgG, EIA, titer)

2600↑

2011 (9 years)a

0–350

Polio virus 1,2,3 neutralization test

512,128, 2048

2011 (9 years)a

300–3800

Anti measles (IgG, EIA, titer)

1500

2011 (9 years)a

500–2500

Anti Helicobacter pylori (IgG, EIA, titer)

0

2010 (8 years)a

0–50

  1. Assays were performed in the Karolinska University Hospital according to the method described previously [26]
  2. PHA phytohemagglutinin test, ConA concanavalin A, PWM pokeweed mitogen, PPV-23: Pneumococcal polysaccharide vaccine Pneumovax23, CMV: Cytomegalovirus, EBV: Epstein–Barr virus, EBNA: EBV nuclear antigen, VCA: viral capsid antigen, HSV: Herpes simplex virus, VZV: varicella-zoster virus, PPD: Purified protein derivative
  3. aAll specific antibodies tested at the age of 8 was before IgG replacement and at the age of 9 after 1 month withdrawal of IgG replacement