Table 1.
Immunological laboratory studies of affected siblings
ParameterII-2 2 yr old (normal range, ages 2–5 yr)II-3 2 mo old (normal range, age 1 wk–2 mo)
Lymphocyte subsets (cells × 10−6/l) 
     CD3 1,215 (1610–4,230) 2,449 (2,070–6,540) 
     CD4 784 (900–2,860) 2,041 (1,460–5,116) 
     CD8 294 (630–1,900) 233 (650–2,490) 
     CD4/CD8 ratio 2.7 (1–2.1) 8.8 (1.3–3.5) 
     Naive CD4+CD45RA+ T cells ND 38% (64–95%) 
     Memory CD4+CD45RO+ T cells ND 27% (2–22%) 
     Naïve CD8+CD45RA+ T cells ND 50% (80–99%) 
     Memory CD8+CD45RO+ T cells ND 13% (1–9%) 
     CD19 216 (700–1,300) 2215 (500–1,500) 
     NK 490 (130–920) 933 (170–1,100) 
Newborn TRECsa    (Normal >40 copies/µl of blood) 99 75 
Serum immunoglobulin 
     IgA (mg/dl) 37 (14–123) 39 (3–47) 
     IgM (mg/dl) 25 (48–168) 9 (17–105) 
     IgG (mg/dl) 276 (424–1051) 334 (206–601) 
     IgE IU/ml 99 (<64) ND 
Lymphocyte proliferation   
     PHA (as % CD45; Normal ≥ 49.9%) 1% 2.4% 
     Candida (Normal >3 SI) ND 
     Tetanus (Normal >3 SI) 1.1 ND 
Specific antibody titers 
     Pneumococcal IgG, Type 3 0.2 (>1.3 µg/ml) ND 
     Pneumococcal IgG, Type 8 0.7 (>1.3 µg/ml) ND 
     Pneumococcal IgG, Type 12 0.3 (>1.3 µg/ml) ND 
     Pneumococcal IgG, Type 14 1.6 (>1.3 µg/ml) ND 
     Antitetanus toxoid 1.64 (>0.15 IU/ml) ND 
ParameterII-2 2 yr old (normal range, ages 2–5 yr)II-3 2 mo old (normal range, age 1 wk–2 mo)
Lymphocyte subsets (cells × 10−6/l) 
     CD3 1,215 (1610–4,230) 2,449 (2,070–6,540) 
     CD4 784 (900–2,860) 2,041 (1,460–5,116) 
     CD8 294 (630–1,900) 233 (650–2,490) 
     CD4/CD8 ratio 2.7 (1–2.1) 8.8 (1.3–3.5) 
     Naive CD4+CD45RA+ T cells ND 38% (64–95%) 
     Memory CD4+CD45RO+ T cells ND 27% (2–22%) 
     Naïve CD8+CD45RA+ T cells ND 50% (80–99%) 
     Memory CD8+CD45RO+ T cells ND 13% (1–9%) 
     CD19 216 (700–1,300) 2215 (500–1,500) 
     NK 490 (130–920) 933 (170–1,100) 
Newborn TRECsa    (Normal >40 copies/µl of blood) 99 75 
Serum immunoglobulin 
     IgA (mg/dl) 37 (14–123) 39 (3–47) 
     IgM (mg/dl) 25 (48–168) 9 (17–105) 
     IgG (mg/dl) 276 (424–1051) 334 (206–601) 
     IgE IU/ml 99 (<64) ND 
Lymphocyte proliferation   
     PHA (as % CD45; Normal ≥ 49.9%) 1% 2.4% 
     Candida (Normal >3 SI) ND 
     Tetanus (Normal >3 SI) 1.1 ND 
Specific antibody titers 
     Pneumococcal IgG, Type 3 0.2 (>1.3 µg/ml) ND 
     Pneumococcal IgG, Type 8 0.7 (>1.3 µg/ml) ND 
     Pneumococcal IgG, Type 12 0.3 (>1.3 µg/ml) ND 
     Pneumococcal IgG, Type 14 1.6 (>1.3 µg/ml) ND 
     Antitetanus toxoid 1.64 (>0.15 IU/ml) ND 

ND, not done; PHA, phytohemagglutinin.

a

TREC: T cell receptor excision circle, measured in dried blood spots retrieved with parental consent from archived newborn specimens.

or Create an Account

Close Modal
Close Modal