Table 1. Immunological laboratory... | Rockefeller University Press

Table 1.

Immunological laboratory characteristics of siblings with homozygous IL2RB mutation

Variable	Proband (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	31.12^{^a}
CD4⁺CD62L⁻CD27⁻CD45RO⁺ effector memory T (% CD4)	4.3	14.8^{^a}
CD4⁺CD45RO⁺ memory T (% CD4)	55	38.3	3–16
CD4⁺CD25⁺⁺FOXP3⁺⁺ regulatory T (% CD4)	0.3	0.33^{^a}	1.8–8.3
CD8⁺CD45RA⁺ naive T (% CD8)	62	82.62^{^a}
CD8⁺CD62L⁺CD27⁺ naive T (% CD8)	4	64.4^{^a}
CD8⁺CD45RO⁺ memory T (% CD8)	39	8.04^{^a}
CD8⁺CD62L⁺CD27⁺CD45RO⁺ central memory T (% CD8)	1	3.06^{^a}
CD8⁺CD62L⁻CD27⁻CD45RO⁺ effector memory T (% CD8)	30	9.59^{^a}
CD19⁺ B (cells/µl)	662	749	430–3,000
CD3⁻CD16⁺/56⁺ NK (cells/µl)	1,235	932	170–830
CD3⁻CD16⁺/56⁺ NK (% lymphocytes)	28	28	3–14
CD3⁻CD56^dim NK (% lymphocytes)	6.61^{^a}	5.49^{^a}
CD3⁻CD56^bright NK (% lymphocytes)	5.79^{^a}	12^{^a}
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

Variable	Proband (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	31.12^{^a}
CD4⁺CD62L⁻CD27⁻CD45RO⁺ effector memory T (% CD4)	4.3	14.8^{^a}
CD4⁺CD45RO⁺ memory T (% CD4)	55	38.3	3–16
CD4⁺CD25⁺⁺FOXP3⁺⁺ regulatory T (% CD4)	0.3	0.33^{^a}	1.8–8.3
CD8⁺CD45RA⁺ naive T (% CD8)	62	82.62^{^a}
CD8⁺CD62L⁺CD27⁺ naive T (% CD8)	4	64.4^{^a}
CD8⁺CD45RO⁺ memory T (% CD8)	39	8.04^{^a}
CD8⁺CD62L⁺CD27⁺CD45RO⁺ central memory T (% CD8)	1	3.06^{^a}
CD8⁺CD62L⁻CD27⁻CD45RO⁺ effector memory T (% CD8)	30	9.59^{^a}
CD19⁺ B (cells/µl)	662	749	430–3,000
CD3⁻CD16⁺/56⁺ NK (cells/µl)	1,235	932	170–830
CD3⁻CD16⁺/56⁺ NK (% lymphocytes)	28	28	3–14
CD3⁻CD56^dim NK (% lymphocytes)	6.61^{^a}	5.49^{^a}
CD3⁻CD56^bright NK (% lymphocytes)	5.79^{^a}	12^{^a}
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.

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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