Table 1 Laboratory parameters of patients.

From: Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

Parameter

Patient 1

Patient 2

Patient 3

Haemoglobin (g l−1)

103 (115–180)

103 (110–140)

122 (120–160)

White blood cells (× 109 l−1)

29 (5.0–20.0)

23.5 (5.0–12.0)

13.8 (4.0–10.0)

Platelets (× 109 l−1)

18 (150–400)

345 (150–400)

335 (150–400)

Lymphocytes (× 109 l−1)

11.9 (2.0–17.0)

17.4 (4.0–10.5)

4.18 (1.5–7.0)

Eosinophils (× 109 l−1)

3.5 (0.7–1.0)

2.82 (0.05–0.70)

3.14 (0.02–0.05)

ESR (mm h−1)

102 (1–10)

55 (1–10)

35 (1–10)

Markers

 CD3 (cells μl−1)

1,409 (900–4,500)

5,609 (2,400–6,900)

1,484 (700–4,200)

 CD4 (cells μl−1)

914 (500–2,400)

4,487 (1,400–5,100)

992 (300–2,000)

 CD8 (cells μl−1)

122 (300–1,600)

1,596 (600–2,200)

431 (300–1,800)

 CD19 (cells μl−1)

5,910 (200–2,100)

8,469 (700–2,500)

1,545 (200–1,600)

 CD56 (cells μl−1)

251 (100–1,000)

932 (100–1,000)

987 (90–900)

Mitogenic responses (stimulation index percent of control)

 PHA

Normal (>50)

Normal (>50)

Normal (>50)

 αCD3

Normal (>50)

Normal (>50)

Normal (>50)

Immunoglobulins

 IgG (g l−1)

11.6 (4.5–14.3)

9.7 (1.1–7.0)

11.9 (5.4–13.6)

 IgA (g l−1)

6.1 (0.2–1.0)

5.1 (0.0–0.3)

4.4 (0.5–2.2)

 IgM (g l−1)

0.4 (0.2–1.8)

1.0 (0.2–0.9)

0.8 (0.4–1.5)

 IgE (IU ml−1)

1,366 (<163)

414 (<25)

1,799 (<90)

Specific antibodies

 Anti-tetanus (IU ml−1)

1.73 (>0.1)

>7.00 (>0.1)

1.21 (>0.1)

 Anti-pneumococcus (mg l−1)

>270

ND

ND

 Isohemagglutinin

αA: 1:64 (>1:8)

ND

αA: 1:16 (>1:8)

 

αB: 1:64 (>1:8)

 

αB: 1:8 (>1:8)

Auto-antibodies

 ANA

1:160 (Neg)

1:160 (Neg)

Neg (Neg)

 ANCA

Pos (Neg)

Pos (Neg)

Pos (Neg)

 TRECS (copy no/3 μl)

>2,000 (>400)

1,239.5 (>400)

1,636 (>400)

  1. Normal values per age group are shown in brackets. Results outside of normal range in bold.