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Table 1.
Immunological laboratory characteristics of siblings with homozygous IL2RB mutation
VariableProband (II.1)Sibling (II.2)Reference range
White blood cell differential 
Absolute neutrophil count (cells/µl) 3,560 1,210 1,500–6,000 
Absolute monocyte count (cells/µl) 1,980 670 280–1,380 
Absolute eosinophil count (cells/µl) 250 400 80–420 
Absolute basophil count (cells/µl) 70 10 10–70 
Absolute lymphocyte count (cells/µl) 4,352 3,372 1,800–9,000 
Lymphocyte subsets 
CD3+ T (cells/µl) 2,313 1,648 2,500–5,600 
CD4+ T (cells/µl) 738 1,144 1,800–4,000 
CD8+ T (cells/µl) 1,395 422 590–1,600 
CD4+:CD8+ ratio 0.53 2.71 1.2–6.2 
CD4+CD45RA+ naive T (% CD4) 45 61.1 77–94 
CD4+CD62L+CD27+ naive T (% CD4) 44 52.13  
CD4+CD62L+CD27+CD45RO+ central memory T (% CD4) 36 31.12a  
CD4+CD62LCD27CD45RO+ effector memory T (% CD4) 4.3 14.8a  
CD4+CD45RO+ memory T (% CD4) 55 38.3 3–16 
CD4+CD25++FOXP3++ regulatory T (% CD4) 0.3 0.33a 1.8–8.3 
CD8+CD45RA+ naive T (% CD8) 62 82.62a  
CD8+CD62L+CD27+ naive T (% CD8) 64.4a  
CD8+CD45RO+ memory T (% CD8) 39 8.04a  
CD8+CD62L+CD27+CD45RO+ central memory T (% CD8) 3.06a  
CD8+CD62LCD27CD45RO+ effector memory T (% CD8) 30 9.59a  
CD19+ B (cells/µl) 662 749 430–3,000 
CD3CD16+/56+ NK (cells/µl) 1,235 932 170–830 
CD3CD16+/56+ NK (% lymphocytes) 28 28 3–14 
CD3CD56dim NK (% lymphocytes) 6.61a 5.49a  
CD3CD56bright NK (% lymphocytes) 5.79a 12a  
IL-2R studies 
CD3+CD132[IL-2Rγ]+ T (%) 100 NA 99–100 
Soluble IL-2Rα (pg/ml) 1,147 1421 ≤1,033 
TCR excision circles (copies/µl) 115.2 86.4 >40 
Serum immunoglobulin levels 
IgG (mg/dl) 1,753 793 140–533 
IgA (mg/dl) 168 100 0–40 
IgM (mg/dl) 186 53 0–84 
IgE (IU/ml) 781 NA 0–29 
NK cell studies 
NK cell function (lytic units) 6.6 NA ≥2.6 
CD107a mobilization (%) 23 NA 11–35 
VariableProband (II.1)Sibling (II.2)Reference range
White blood cell differential 
Absolute neutrophil count (cells/µl) 3,560 1,210 1,500–6,000 
Absolute monocyte count (cells/µl) 1,980 670 280–1,380 
Absolute eosinophil count (cells/µl) 250 400 80–420 
Absolute basophil count (cells/µl) 70 10 10–70 
Absolute lymphocyte count (cells/µl) 4,352 3,372 1,800–9,000 
Lymphocyte subsets 
CD3+ T (cells/µl) 2,313 1,648 2,500–5,600 
CD4+ T (cells/µl) 738 1,144 1,800–4,000 
CD8+ T (cells/µl) 1,395 422 590–1,600 
CD4+:CD8+ ratio 0.53 2.71 1.2–6.2 
CD4+CD45RA+ naive T (% CD4) 45 61.1 77–94 
CD4+CD62L+CD27+ naive T (% CD4) 44 52.13  
CD4+CD62L+CD27+CD45RO+ central memory T (% CD4) 36 31.12a  
CD4+CD62LCD27CD45RO+ effector memory T (% CD4) 4.3 14.8a  
CD4+CD45RO+ memory T (% CD4) 55 38.3 3–16 
CD4+CD25++FOXP3++ regulatory T (% CD4) 0.3 0.33a 1.8–8.3 
CD8+CD45RA+ naive T (% CD8) 62 82.62a  
CD8+CD62L+CD27+ naive T (% CD8) 64.4a  
CD8+CD45RO+ memory T (% CD8) 39 8.04a  
CD8+CD62L+CD27+CD45RO+ central memory T (% CD8) 3.06a  
CD8+CD62LCD27CD45RO+ effector memory T (% CD8) 30 9.59a  
CD19+ B (cells/µl) 662 749 430–3,000 
CD3CD16+/56+ NK (cells/µl) 1,235 932 170–830 
CD3CD16+/56+ NK (% lymphocytes) 28 28 3–14 
CD3CD56dim NK (% lymphocytes) 6.61a 5.49a  
CD3CD56bright NK (% lymphocytes) 5.79a 12a  
IL-2R studies 
CD3+CD132[IL-2Rγ]+ T (%) 100 NA 99–100 
Soluble IL-2Rα (pg/ml) 1,147 1421 ≤1,033 
TCR excision circles (copies/µl) 115.2 86.4 >40 
Serum immunoglobulin levels 
IgG (mg/dl) 1,753 793 140–533 
IgA (mg/dl) 168 100 0–40 
IgM (mg/dl) 186 53 0–84 
IgE (IU/ml) 781 NA 0–29 
NK cell studies 
NK cell function (lytic units) 6.6 NA ≥2.6 
CD107a mobilization (%) 23 NA 11–35 

College of American Pathologists/Clinical Laboratory Improvement Amendments (CAP/CLIA) representative laboratory data are shown for each patient at age 4 mo. Numbers in boldface indicate values above the normal range for age-matched controls in the laboratory in which the study was performed. CAP/CLIA laboratory studies were performed at Children’s Hospital Colorado Clinical Laboratory, Advanced Diagnostic Laboratories National Jewish Health, Mayo Medical Laboratories, and Cincinnati Children’s Diagnostic Immunology Laboratory. Age-appropriate reference ranges are provided where available. NA, not applicable.

a

Laboratory studies performed under research study protocol, at age 6 mo for sibling, and age 2 yr for the proband. Complete immunophenotype data are provided in Fig. S1.

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