Table 1.
Blood and immunological parameters of NCKAP1L patients
Patient 1 (3 mo)Patient 1 (8 mo)Normal rangePatient 2 (9 yr)Patient (11 yr)Normal range
Peripheral blood 
White blood cells (×103/µl) 85.5 7.4 6–17.5 3.46 10.6 5.4–9.7 
Hemoglobin (g/dl) 9.5 11 9.5–13.5 6.60 12.4 11.3–13.4 
RBC (x106/µl) 3.16 4.84 3.5–5.5 3.02 5.65 4.00–5.20 
MCV (fl) 95.9 82 80–100 66.4 62.5 77–90 
MCH (pg) 30.1 27.5 27–31 22 18.9 25–30 
Reticulocyte count (%) 2.4  0.5–1.5  0.3 0.5–1.5 
Direct Coombs test Negative Negative  Negative Negative  
Platelets (×103/µl) 234 236 150–450 71 188 150–450 
Neutrophils (×103/µl) 21.4 2.1 1–8.5 1.66 2.84 2.5–5.95 
Lymphocytes (×103/µl) 51 3.3 4.0–10.5 1.38 5.07 1.23–2.76 
Monocytes (×103/µl) 7.7 1.8 0.2–1.2 0.42 0.87 0.10–1.11 
Eosinophils (×103/µl) 1.5  <0.81 0 0.12 0.04–0.19 
Lymphocyte subsetsa 
CD3 (×103 cells/ml) 40.8 4.67 1.85–5.96 0.43 3.78 1–2.6 
CD3/CD4 (×103 cells/ml) 10.2 1.28 1.14–3.8 0.25 1.69 0.53–1.5 
CD3/CD8 (×103 cells/ml) 30.6 3.24 0.54–1.97 0.16 2.38 0.33–1.1 
CD4/CD8 ratio 0.3 0.39 1.6–3.8 1.05 0.58 1.1–1.6 
CD3/CD25 (×103 cells/ml) - -  56 328 100–400 
CD19 (×103 cells/ml) 5.6 0.69 0.64–1.96 0.57 1.55 0.27–8.6 
CD16/CD56 (×103 cells/ml) 4.5 0.40 0.15–1.33 0.57 0.21 0.07–0.48 
% in CD4+ T cells 
T reg (CD25+CD127−Foxp3+) - 5.6 6.3–8.5* - 7.4 7.6–9.9* 
Naive (CD45RA+CCR7+) - 33 74–90* - 34 67–83* 
CM (CD45RA−CCR7+) - 20 8–18* - 50 12–23* 
EM (CD45RA−CCR7−) - 34 2–5* - 15 4–9* 
TEMRA (CD45RA+CCR7−) - 3 0–5* - 1 1–2* 
CD57+ - 6.5 1–2* - 3.8 0–2* 
CD69+ - 21 5–9* - 5.0 5–7* 
CD95+ - 69 12–24* - 66.9 18–36* 
HLA-DR+ - 7 2–4* - 5.3 2–9* 
PD1+ - 36 16–26* - 34.3 17–22* 
% in CD8+ T cells 
Naive (CD45RA+CCR7+) - 6 60–85* - 12 56–74* 
CM (CD45RA−CCR7+) - 1 0–6* - 10 2–4* 
EM (CD45RA−CCR7−) - 5 2–10* - 21 6–14* 
TEMRA (CD45RA+CCR7−) - 88 6–28* - 57 13–30* 
CD57+ - 49 0–16* - 58 4–20* 
CD69+ - 22 6–21* - 17 12–24* 
CD95+ - 61 0–18* - 36 14–34* 
HLA-DR+ - 30 5–17* - 21 5–15* 
PD1+ - 35 19–25* - 25 16–31* 
% in CD19+ B cells 
Naive (IgD+CD27−) - 90 69–86* - 93 64–86* 
Switched memory (IgD+CD27−) - 1 3–10* - 3 5–17* 
Unswitched memory (IgD+CD27+) - 1 7–10* - 3 5–15* 
Transitional (CD24+CD38+) - 10 8–19* - 9 7–15* 
CD21− - 77 4–14* - 2 2–5* 
% in monocytes 
Classical (CD14+CD16−) - 9 59–80* - 72 80–85* 
Transient (CD14+CD16+) - 10 6–14* - 17 3–5* 
Resident (CD14loCD16+) - 75 5–12* - 2 2–6* 
% in CD3−CD56+ NK cells 
CD16−CD56++ - 18 2–8* - 18 5–10* 
NKp30+ - 26 69–86** - 51 64–81* 
NKp44+ - 8 0–11* - 7 1–4* 
NKp46+ - 96 96–98* - 95 94–97* 
NKG2C+ - 11 0–69** - 10 7–19** 
NKG2D+ - 98 97–98* - 93 84–100* 
CD57+ - 10 0–49* - 28 10–23** 
Igs 
IgA (mg/dl) 130 169 4–69 1,820 680 70–400 
IgG (mg/dl) 2,581 1,680 196–560 15,900 22,500 700–1,600 
IgM (mg/dl) >1,000 9,550 25–93 1,340 1,160 40–230 
IgE (IU/ml) 60 22.9 <15 358 197 0–500 
Serology 
Antinuclear antibodies titer - Positive at 1/1,280 dilution <1/80 Negative - <1/80 
Anti-dsDNA (IU/ml) - Negative <50 Negative - <200 
Tetanus titer (IU/ml) Protective Protective >0.15 Protective Protective >0.15 
Others 
Ferritin (ng/ml) 1,190 241 36–100 14,280 76.9 21–274 
Fibrinogen (mg/liter) 0.64 0.83 1.5–3.5 1.07 3.83 1.50–4.10 
Triglycerides (mg/dl) 1,140 1,940 20–150 612 174 20–150 
AST (U/liter) 141 84 6–50 301 102 5–34 
ALT (U/liter) 21 35 20–60 313 121 5–55 
Total bilirubin (µmol/liter) 6.84 3.42 3.4–17.1 15.1 5.1 3.4–17.1 
 Conjugated 3.42 - <5.9 14.2 - <5.9 
 Unconjugated 3.42 - <17.1 0.9 - <17.1 
Alk Phos (IU/liter) 709 680 110–320 174 221 141–460 
Haptoglobin (g/liter) - - - 0.47 - <2.7 
LDH (IU/liter) - 2,835 500–920 948  432–700 
ESR (mm/h) 1 20 0–10 28 25 0–15 
CRP (mg/liter) 1 1 <6 208 5 < 8 
sIL-2R (U/ml) - 3,202 223–710 - 1,701 223–710 
IFN-γ (pg/ml) - 5.3 1.7–66.5b - 339 0.3–11.0c 
IL-10 (pg/ml) - 48.3 0–2.5b - 12.6 0–10.3c 
IL-18 (pg/ml) - 3,698 17–145b - 2,130 266–1,300c 
IP-10 (pg/ml) - 228 25–68b - 518 37–245c 
IL12p40 (pg/ml) - 676 0.0–74b - 152 0.0–65c 
Patient 1 (3 mo)Patient 1 (8 mo)Normal rangePatient 2 (9 yr)Patient (11 yr)Normal range
Peripheral blood 
White blood cells (×103/µl) 85.5 7.4 6–17.5 3.46 10.6 5.4–9.7 
Hemoglobin (g/dl) 9.5 11 9.5–13.5 6.60 12.4 11.3–13.4 
RBC (x106/µl) 3.16 4.84 3.5–5.5 3.02 5.65 4.00–5.20 
MCV (fl) 95.9 82 80–100 66.4 62.5 77–90 
MCH (pg) 30.1 27.5 27–31 22 18.9 25–30 
Reticulocyte count (%) 2.4  0.5–1.5  0.3 0.5–1.5 
Direct Coombs test Negative Negative  Negative Negative  
Platelets (×103/µl) 234 236 150–450 71 188 150–450 
Neutrophils (×103/µl) 21.4 2.1 1–8.5 1.66 2.84 2.5–5.95 
Lymphocytes (×103/µl) 51 3.3 4.0–10.5 1.38 5.07 1.23–2.76 
Monocytes (×103/µl) 7.7 1.8 0.2–1.2 0.42 0.87 0.10–1.11 
Eosinophils (×103/µl) 1.5  <0.81 0 0.12 0.04–0.19 
Lymphocyte subsetsa 
CD3 (×103 cells/ml) 40.8 4.67 1.85–5.96 0.43 3.78 1–2.6 
CD3/CD4 (×103 cells/ml) 10.2 1.28 1.14–3.8 0.25 1.69 0.53–1.5 
CD3/CD8 (×103 cells/ml) 30.6 3.24 0.54–1.97 0.16 2.38 0.33–1.1 
CD4/CD8 ratio 0.3 0.39 1.6–3.8 1.05 0.58 1.1–1.6 
CD3/CD25 (×103 cells/ml) - -  56 328 100–400 
CD19 (×103 cells/ml) 5.6 0.69 0.64–1.96 0.57 1.55 0.27–8.6 
CD16/CD56 (×103 cells/ml) 4.5 0.40 0.15–1.33 0.57 0.21 0.07–0.48 
% in CD4+ T cells 
T reg (CD25+CD127−Foxp3+) - 5.6 6.3–8.5* - 7.4 7.6–9.9* 
Naive (CD45RA+CCR7+) - 33 74–90* - 34 67–83* 
CM (CD45RA−CCR7+) - 20 8–18* - 50 12–23* 
EM (CD45RA−CCR7−) - 34 2–5* - 15 4–9* 
TEMRA (CD45RA+CCR7−) - 3 0–5* - 1 1–2* 
CD57+ - 6.5 1–2* - 3.8 0–2* 
CD69+ - 21 5–9* - 5.0 5–7* 
CD95+ - 69 12–24* - 66.9 18–36* 
HLA-DR+ - 7 2–4* - 5.3 2–9* 
PD1+ - 36 16–26* - 34.3 17–22* 
% in CD8+ T cells 
Naive (CD45RA+CCR7+) - 6 60–85* - 12 56–74* 
CM (CD45RA−CCR7+) - 1 0–6* - 10 2–4* 
EM (CD45RA−CCR7−) - 5 2–10* - 21 6–14* 
TEMRA (CD45RA+CCR7−) - 88 6–28* - 57 13–30* 
CD57+ - 49 0–16* - 58 4–20* 
CD69+ - 22 6–21* - 17 12–24* 
CD95+ - 61 0–18* - 36 14–34* 
HLA-DR+ - 30 5–17* - 21 5–15* 
PD1+ - 35 19–25* - 25 16–31* 
% in CD19+ B cells 
Naive (IgD+CD27−) - 90 69–86* - 93 64–86* 
Switched memory (IgD+CD27−) - 1 3–10* - 3 5–17* 
Unswitched memory (IgD+CD27+) - 1 7–10* - 3 5–15* 
Transitional (CD24+CD38+) - 10 8–19* - 9 7–15* 
CD21− - 77 4–14* - 2 2–5* 
% in monocytes 
Classical (CD14+CD16−) - 9 59–80* - 72 80–85* 
Transient (CD14+CD16+) - 10 6–14* - 17 3–5* 
Resident (CD14loCD16+) - 75 5–12* - 2 2–6* 
% in CD3−CD56+ NK cells 
CD16−CD56++ - 18 2–8* - 18 5–10* 
NKp30+ - 26 69–86** - 51 64–81* 
NKp44+ - 8 0–11* - 7 1–4* 
NKp46+ - 96 96–98* - 95 94–97* 
NKG2C+ - 11 0–69** - 10 7–19** 
NKG2D+ - 98 97–98* - 93 84–100* 
CD57+ - 10 0–49* - 28 10–23** 
Igs 
IgA (mg/dl) 130 169 4–69 1,820 680 70–400 
IgG (mg/dl) 2,581 1,680 196–560 15,900 22,500 700–1,600 
IgM (mg/dl) >1,000 9,550 25–93 1,340 1,160 40–230 
IgE (IU/ml) 60 22.9 <15 358 197 0–500 
Serology 
Antinuclear antibodies titer - Positive at 1/1,280 dilution <1/80 Negative - <1/80 
Anti-dsDNA (IU/ml) - Negative <50 Negative - <200 
Tetanus titer (IU/ml) Protective Protective >0.15 Protective Protective >0.15 
Others 
Ferritin (ng/ml) 1,190 241 36–100 14,280 76.9 21–274 
Fibrinogen (mg/liter) 0.64 0.83 1.5–3.5 1.07 3.83 1.50–4.10 
Triglycerides (mg/dl) 1,140 1,940 20–150 612 174 20–150 
AST (U/liter) 141 84 6–50 301 102 5–34 
ALT (U/liter) 21 35 20–60 313 121 5–55 
Total bilirubin (µmol/liter) 6.84 3.42 3.4–17.1 15.1 5.1 3.4–17.1 
 Conjugated 3.42 - <5.9 14.2 - <5.9 
 Unconjugated 3.42 - <17.1 0.9 - <17.1 
Alk Phos (IU/liter) 709 680 110–320 174 221 141–460 
Haptoglobin (g/liter) - - - 0.47 - <2.7 
LDH (IU/liter) - 2,835 500–920 948  432–700 
ESR (mm/h) 1 20 0–10 28 25 0–15 
CRP (mg/liter) 1 1 <6 208 5 < 8 
sIL-2R (U/ml) - 3,202 223–710 - 1,701 223–710 
IFN-γ (pg/ml) - 5.3 1.7–66.5b - 339 0.3–11.0c 
IL-10 (pg/ml) - 48.3 0–2.5b - 12.6 0–10.3c 
IL-18 (pg/ml) - 3,698 17–145b - 2,130 266–1,300c 
IP-10 (pg/ml) - 228 25–68b - 518 37–245c 
IL12p40 (pg/ml) - 676 0.0–74b - 152 0.0–65c 

“-” indicates test not done. Normal-range values are either those of the local diagnostic laboratory and/or reported from Gregory and Andropoulos (2012). * and ** correspond to 5th and 95th percentile of values obtained from eight age-matched controls and, in some rare cases, from three age-matched controls, respectively. Alk Phos., alkaline phosphatase; ALT, alanine transaminase; AST, aspartate transaminase; CRP, C-reactive protein; dsDNA, double-stranded DNA; ESR, erythrocyte sedimentation rate; LDH, lactate dehydrogenase; MCH, mean corpuscular hemoglobin; MCV, mean corpuscular volume; T reg cells, regulatory T cells.

a

Normal range for absolute numbers of lymphocyte subsets were from age-matched routine clinical lab values.

b

Normal range shows 5th and 95th percentile of serum cytokine levels calculated among 22 healthy subjects.

c

Normal range shows 5th and 95th percentile of plasma cytokine levels calculated among 10 healthy subjects.

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