Table 2.

Hematological and Immunological parameters of patient 1 at 5 years of age

​Sample 1aSample 2aNormal rangeb
Red blood cells (106 cells/μl)1 5.15 ​ 3.9–5.3 
Hemoglobin (g/dl)1 11.4 8.4 11.5–14.5 
Hematocrit (%)1 38 26.8 34–40 
Mean corpuscular volume (fL)1 73.8 75.7 76–90 
Mean corpuscular hemoglobin (pg)1 22.1 23.7 25–30 
Mean corpuscular HGB (g/dl)1 30 31.3 32–36 
Red cell distribution width-CV (%)1 26.5 22.4 11.5–15 
Platelet count (103/μl)1 235 144 150–450 
White blood cells (103 cells/μl)1 9.3 7.23 5–14.5 
Granulocytes ​ ​ ​ 
Granulocytes (%)1 41 44.3 ​ 
Neutrophils (103 cells/μl)1 3.72 3.19 1.5–8 
Neutrophils (%)3 40 44.2 28–54 
Basophils (103 cells/μl)3 ​ 0.01 0–0.2 
Basophils (%)1 ​ 0.1 0–1 
Eosinophils (103 cells/μl)3 0.93 0 0–0.7 
Eosinophils (%)1 1 0 0–3 
Monocytes ​ ​ ​ 
Monocytes (103 cells/μl)3 0.372 1.28 0.1–1.5 
Monocytes (%)1 4 17.7 0–5 
Lymphocytes by CBC ​ ​ ​ 
Lymphocyte (cells/μl)2 5,115 2,750 2,280–3,820 
Lymphocyte (%)1 55 38 17–67 
Immunophenotyping ​ ​ ​ 
CD3+ (cells/μl)2 3,313 3,703 1,424–2,664 
CD3+ (%)2 84.84 92 60.05–74.8 
CD56+ (cells/μl)2 466 326 ​ 
CD56+ (%)2 12.73 8.2 ​ 
CD4+ (cells/μl)2 1,694 2,158 686–1,358 
CD4+ (%)2 43.49 54.2 26.17–40.76 
CD8+ (cells/μl)2 1,440 1,353 518–1,125 
CD8+ (%)2 36.88 34 19.68–34.06 
CD4/CD8 ratio2 1.17 1.6 0.87–1.94 
CD4+CD8+3 0.26 0.14 0–1 
CD19+ (cells/μl)2 5 6 280–623 
CD19+ (%)2 0.14 0.2 10.21–20.12 
% in CD3+ T cells ​ ​ ​ 
CD3+TcRγδ− (%)2 96.03 96.34 90.66–93.08 
CD3+TcRγδ+ (%)2 3.97 3.66 6.92–9.34 
% in CD4+T cells ​ ​ ​ 
Naive (CD45RA+CCR7+)2 78.3 77.7 45.56–75.28 
Central memory (CD45RA−CCR7+)2 6.2 6.9 22.06–46.46 
Effector memory (CD45RA−CCR7−)2 13.2 12.7 2.08–8.78 
CD45RA+ TEMRA (CD45RA+CCR7−)2 2.2 3.7 0–1.06 
Treg (CD25+CD127−) 5.9 6.2 5.81–10.68 
PD1+ (CD279+)3 4.6 1 14–32 
Follicular helper (CXCR5+) 0.5 0.8 6.5–10.1 
% in CD8+ T cells ​ ​ ​ 
Naïve (CD45RA+CCR7+)2 39.7 32.9 41.58–77.90 
Central memory (CD45RA−CCR7+)2 0.2 0.8 12.08–30.54 
Effector memory (CD45RA−CCR7−)2 11.1 13.2 1.58–13.18 
CD45RA+ TEMRA (CD45RA+CCR7−)2 48.8 51.6 1.70–24.62 
PD1+ (CD279+)3 4.5 0.6 15–47 
CD57+3 23.3 32.9 6–32 
% in CD19+CD20+B cells ​ ​ ​ 
Switched memory (IgD−CD27+)2 Not detectable Not detectable 7.76–19.9 
Unswitched memory (IgD+CD27+)3 Not detectable Not detectable 5–20 
Naive (IgD+CD27−)2 Not detectable Not detectable 48.36–75.84 
% in monocytes ​ ​ ​ 
Classical (CD14+CD16−)3 71.4 57 69–87 
Transient (CD14+CD16+)3 2 1.6 2–19 
Resident (CD14loCD16+)3 0.5 6.8 2–8 
% in lineage−HLA DR+3 ​ ​ ​ 
Plasmacytoid dendritic cells CD123+ 50.27 54.67 4.38–8.98 
% in CD16+CD56+NK cells ​ ​ ​ 
CD56brightCD16− (CD56+)3 12.8 8.6 1–12 
CD56brightCD16+ (CD56++CD16+)3 77.5 58.6 0–6 
CD56dim/CD16+ (CD56+CD16+)3 9.6 32.8 72–96 
NKG2C+ (CD94+)3 8.2 7.1 3–23 

TEMRA, terminally differentiated effector memory subset.

a

Samples 1 and 2 were taken 2 mo apart.

b

Normal range values are either from (1) Gregory and Andropoulos (12), https://doi.org/10.1002/9781444345186, (2) Ding et al. (13), https://doi.org/10.1016/j.jaci.2018.04.022, or (3) the onsite clinical laboratory.

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