Table 1.

Immunophenotyping of index patient lymphocytes at age 11 years

Hematologic and immunologic parametersIndex patientAge-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 

Bold denotes high values (above the reference range), and italics denotes low values (below the reference range).

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