Immunophenotyping of index patient lymphocytes at age 11 years
| Hematologic and immunologic parameters | Index patient | Age-matched reference range |
|---|---|---|
| T cell studies (units) | ||
| CD3+ (109 cells/liter) | 0.374↓ | 0.850–3.200 |
| CD3+CD4+ (109 cells/liter) | 0.151↓ | 0.400–2.100 |
| CD3+CD8+ (109 cells/liter) | 0.208↓ | 0.300–1.300 |
| CD3+CD4+CD45RA+CD31+ (recent thymic emigrants) (%) | 2↓ | 31–81 |
| CD4+ T cell repertoire | Normal polyclonal pattern | |
| CD8+ T cell repertoire | ||
| CD3+CD8+ TCR Vβ12 (% of total CD8+ cells) | 39.5↑ | 0.33–3.33 |
| CD3+CD8+ TCR Vβ14 (% of total CD8+ cells) | 18.35↑ | 1.50–14.30 |
| B cell studies (units) | ||
| CD19+ (109 cells/liter) | 0.069↓ | 0.120–0.740 |
| CD19+CD27+ memory (%) | 1.3↓ | 13.3–47.9 |
| CD19+CD27−IgD+ naïve (%) | 86.1↑ | 57.3–82.5 |
| CD19+CD27+IgM+IgD+CD38dimCD24+ (memory, non-switched) (%) | 0.8↓ | 4.6–18.2 |
| CD19+CD27+IgM−IgD−CD38dimCD24− (memory, class-switched) (%) | 0.5↓ | 8.7–25.6 |
| CD19+IgM+CD38++ (transitional) (%) | 0.2↓ | 1.4–13.0 |
| CD19+CD21loCD38lo (%) | 65↑ | 1.0–11.0 |
| Hematologic and immunologic parameters | Index patient | Age-matched reference range |
|---|---|---|
| T cell studies (units) | ||
| CD3+ (109 cells/liter) | 0.850–3.200 | |
| CD3+CD4+ (109 cells/liter) | 0.400–2.100 | |
| CD3+CD8+ (109 cells/liter) | 0.300–1.300 | |
| CD3+CD4+CD45RA+CD31+ (recent thymic emigrants) (%) | 31–81 | |
| CD4+ T cell repertoire | Normal polyclonal pattern | |
| CD8+ T cell repertoire | ||
| CD3+CD8+ TCR Vβ12 (% of total CD8+ cells) | 0.33–3.33 | |
| CD3+CD8+ TCR Vβ14 (% of total CD8+ cells) | 1.50–14.30 | |
| B cell studies (units) | ||
| CD19+ (109 cells/liter) | 0.120–0.740 | |
| CD19+CD27+ memory (%) | 13.3–47.9 | |
| CD19+CD27−IgD+ naïve (%) | 57.3–82.5 | |
| CD19+CD27+IgM+IgD+CD38dimCD24+ (memory, non-switched) (%) | 4.6–18.2 | |
| CD19+CD27+IgM−IgD−CD38dimCD24− (memory, class-switched) (%) | 8.7–25.6 | |
| CD19+IgM+CD38++ (transitional) (%) | 1.4–13.0 | |
| CD19+CD21loCD38lo (%) | 1.0–11.0 | |
Bold denotes high values (above the reference range), and italics denotes low values (below the reference range).
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