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Table 3 Summary of immunologic features of the patients with telomere biology disorders

From: Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Patient Reference Range
(adults/children)
P1.1 P1.2 P2 P3
Lymphocytes 1300–3600/1700-
6900/1100–5900×106/L
2030 2340 660 1370
Monocytes 200-800 × 106/L 620 560 290 460
Neutrophils 1500-6700 × 106/L 1750 2550 1110 6540
Basophils 0-100 × 106/L 10 40 10 20
Eosinophils 30-440 × 106/L 90 170 7 40
Platelets 150,000–360 000 × 106/L 218,000 264,000 62,000 233,000
B-cells (CD19+) 200–2100/ 200–1600×106/L 200 360 80 50
CD3+ 900–4500/700–4200× 106/L 1340 1670 560 490
CD3 + CD4+ 500–2400/ 300–2000×106/L 430 817 303 294
CD3 + CD8+ 300–1600/00–1800×106/L 770 800 230 220
NK-cells (CD3CD16+ 56+) 100–1000/ 90–900×106/L 140 200 90 20
Plasmacytoid 0.1–0.3% 0.14 NA 0.10% NA
(linHLA-DR+CD123+CD11c)      
Monocytoid 0.1–0.3% 0.42 NA 0.24% NA
(linHLA-DR+CD123CD11c+)
IgG 6.8–15.0 g/L 11.1 NA 14.3 1.9
IgA 0.52–4.02 g/L 2.95 NA 2.82 0.39
IgM 0.47–2.84 g/L 0.47 NA 1.44 0.5
IgE 0–110 IU/L 46 NA NA <  2
Lymphocyte proliferative responses to mitogens Phytohemagglutinin Concanavalin A normal NA normal abnormal
  1. Abbreviations: NA, not assessed