| ID . | A.I.1 (Grandfather) . | A.II.1 (Aunt) . | A.II.2 (Father) . | A.III.1 (Index Patient) . | Reference range . |
|---|---|---|---|---|---|
| Age (y) and sex | 62, M | 40, F | 39, M | 2, F | |
| Age at onset | 15 y | 5 y | 1 y | 4 mo | |
| White blood cells (cells/μl) | |||||
| Neutrophil | 3,530 | 4,290 | 1,290 (L) | N.A. | Adult: 1,780–5,380 |
| 1,380 (L) | 6 mo–5 y: 1,500–8,500 | ||||
| Lymphocyte | 1,270 (L) | 3,510 | 1,830 | N.A. | Adult: 1,320–3,570 |
| 4,060 | 1–2 y: 3,000–9,500 | ||||
| Monocyte | 660 | 750 | 460 | N.A. | Adult: 300–820 |
| 360 | 1–2 y: 300–850 | ||||
| Eosinophil | 100 | 60 | 40 | N.A. | Adult: 40–540 |
| 60 (L) | 1–2 y: 165–465 | ||||
| Basophils | 80 | 100 (H) | 40 | N.A. | Adult: 10–80 |
| 20 | 1 mo–5 y: 0–140 | ||||
| Lymphocyte phenotyping | |||||
| CD3 T (ALC; %) | 1,015; 80 | 2,166; 62 | 1,448; 79 | 5,954; 69 | Adult: 651–2,804; 55–88 |
| 2,931; 72 | 21 mo: 2,100–6,200; 53–75 | ||||
| CD4 T (ALC; %) | 631; 50 | 1,204; 34 | 525; 29 | 3,724 (H); 43 | Adult: 370–1,336; 28–56 |
| 1,803; 44 | 21 mo: 1,300–3,400; 32–51 | ||||
| CD8 T (ALC; %) | 334; 26 | 769; 22 | 675; 37 | 1,821; 21 | Adult: 185–1,024; 14–46 |
| 865; 21 | 21 mo: 620–2,000; 14–30 | ||||
| CD4/CD8 ratio | 1.89 | 1.6 | 0.78 (L) | 2.04 | Adult: 0.81–4 |
| 2.08 | 21 mo: 1.2–6.2 | ||||
| CD4+CD45RA+ (%) | 61 (H) | 65 (H) | 50 | 88 | Adult: 14–57% of CD4+ |
| 85 | 21 mo: 63–91 | ||||
| CD8+CD45RA+ (%) | 19 (L) | 61 | 23 | 94 | Adult: 21–70% of CD8+ |
| 90 | 21 mo: 71–98 | ||||
| CD4+CD45RA+CD31+: RTE (%) | 67 (H) | 68 (H) | 55 (H) | 82 | Adult: 6.7–45% of CD4+ |
| 79 | 21 mo: 40–100 | ||||
| CD4+CD45RA−CXCR5+: Tfh (%) | 2.7 (L) | 2.7 (L) | 3.6 (L) | N.A. | Adult: 3.7–14% of CD4+ |
| 1.8 | 21 mo: N.A | ||||
| CD4+CD25+FOXP3+: T reg (%) | 6.2 | 6.1 | 8.8 | N.A. | Adult:4–10% of CD4+ |
| 4.5 | 21 mo: N.A. | ||||
| CD 20 B (ALC; %) | 38 (L); 3 | 990 (H); 28 (H) | 234; 13 | 1988, 23 | Adult: 79–399; 3.8–18 |
| 702, 17 | 21 mo: 720–2,600; 16–35 | ||||
| CD20+CD27+IgM− or IgD− (%; switched memory) | 0 (L) | 2.5 (L) | 0 (L) | 0.7 | Adult: 4.3–20% of CD19+ |
| 0 (L) | 21 mo: 0.1–1.9 | ||||
| CD19+CD38++CD24− (%; plasmablast) | 0 (L) | 0 (L) | 0 (L) | N.A. | Adult: 0.3–3.6 of CD19+ |
| 0 | 21 mo: N.A | ||||
| NK (ALC; %) | 222; 18 | 362;10 | 154; 8 | 587, 7 | Adult: 126–841; 7.3–33 |
| 414, 10 | 21 mo: 180–920; 3–15 | ||||
| NKT (ALC; %) | 61; 5 | 249; 7 | 613 (H); 34 (H) | N.A. | Adult: 56–448; 2.1–18 |
| 28, 0.7 | 21 mo: N.A. | ||||
| Immunoglobulins (mg/dl) | |||||
| IgG | 1,163a | 914a | 1,420a | 4 mo: 85 (L) | Adult: 540–1,822 |
| 25 mo: 916a | 4 mo: 311–664 | ||||
| IgA | 8 (L) | <5 (L) | 10 (L) | 4 mo: 15 | Adult: 101–645 |
| 25 mo: <5 (L) | 4 mo: 0–42 | ||||
| IgM | <5 (L) | <5 (L) | <5 (L) | 4 mo: 57 | Adult: 22–240 |
| 25 mo: <5 (L) | 4 mo: 0–127 | ||||
| ID . | A.I.1 (Grandfather) . | A.II.1 (Aunt) . | A.II.2 (Father) . | A.III.1 (Index Patient) . | Reference range . |
|---|---|---|---|---|---|
| Age (y) and sex | 62, M | 40, F | 39, M | 2, F | |
| Age at onset | 15 y | 5 y | 1 y | 4 mo | |
| White blood cells (cells/μl) | |||||
| Neutrophil | 3,530 | 4,290 | 1,290 (L) | N.A. | Adult: 1,780–5,380 |
| 1,380 (L) | 6 mo–5 y: 1,500–8,500 | ||||
| Lymphocyte | 1,270 (L) | 3,510 | 1,830 | N.A. | Adult: 1,320–3,570 |
| 4,060 | 1–2 y: 3,000–9,500 | ||||
| Monocyte | 660 | 750 | 460 | N.A. | Adult: 300–820 |
| 360 | 1–2 y: 300–850 | ||||
| Eosinophil | 100 | 60 | 40 | N.A. | Adult: 40–540 |
| 60 (L) | 1–2 y: 165–465 | ||||
| Basophils | 80 | 100 (H) | 40 | N.A. | Adult: 10–80 |
| 20 | 1 mo–5 y: 0–140 | ||||
| Lymphocyte phenotyping | |||||
| CD3 T (ALC; %) | 1,015; 80 | 2,166; 62 | 1,448; 79 | 5,954; 69 | Adult: 651–2,804; 55–88 |
| 2,931; 72 | 21 mo: 2,100–6,200; 53–75 | ||||
| CD4 T (ALC; %) | 631; 50 | 1,204; 34 | 525; 29 | 3,724 (H); 43 | Adult: 370–1,336; 28–56 |
| 1,803; 44 | 21 mo: 1,300–3,400; 32–51 | ||||
| CD8 T (ALC; %) | 334; 26 | 769; 22 | 675; 37 | 1,821; 21 | Adult: 185–1,024; 14–46 |
| 865; 21 | 21 mo: 620–2,000; 14–30 | ||||
| CD4/CD8 ratio | 1.89 | 1.6 | 0.78 (L) | 2.04 | Adult: 0.81–4 |
| 2.08 | 21 mo: 1.2–6.2 | ||||
| CD4+CD45RA+ (%) | 61 (H) | 65 (H) | 50 | 88 | Adult: 14–57% of CD4+ |
| 85 | 21 mo: 63–91 | ||||
| CD8+CD45RA+ (%) | 19 (L) | 61 | 23 | 94 | Adult: 21–70% of CD8+ |
| 90 | 21 mo: 71–98 | ||||
| CD4+CD45RA+CD31+: RTE (%) | 67 (H) | 68 (H) | 55 (H) | 82 | Adult: 6.7–45% of CD4+ |
| 79 | 21 mo: 40–100 | ||||
| CD4+CD45RA−CXCR5+: Tfh (%) | 2.7 (L) | 2.7 (L) | 3.6 (L) | N.A. | Adult: 3.7–14% of CD4+ |
| 1.8 | 21 mo: N.A | ||||
| CD4+CD25+FOXP3+: T reg (%) | 6.2 | 6.1 | 8.8 | N.A. | Adult:4–10% of CD4+ |
| 4.5 | 21 mo: N.A. | ||||
| CD 20 B (ALC; %) | 38 (L); 3 | 990 (H); 28 (H) | 234; 13 | 1988, 23 | Adult: 79–399; 3.8–18 |
| 702, 17 | 21 mo: 720–2,600; 16–35 | ||||
| CD20+CD27+IgM− or IgD− (%; switched memory) | 0 (L) | 2.5 (L) | 0 (L) | 0.7 | Adult: 4.3–20% of CD19+ |
| 0 (L) | 21 mo: 0.1–1.9 | ||||
| CD19+CD38++CD24− (%; plasmablast) | 0 (L) | 0 (L) | 0 (L) | N.A. | Adult: 0.3–3.6 of CD19+ |
| 0 | 21 mo: N.A | ||||
| NK (ALC; %) | 222; 18 | 362;10 | 154; 8 | 587, 7 | Adult: 126–841; 7.3–33 |
| 414, 10 | 21 mo: 180–920; 3–15 | ||||
| NKT (ALC; %) | 61; 5 | 249; 7 | 613 (H); 34 (H) | N.A. | Adult: 56–448; 2.1–18 |
| 28, 0.7 | 21 mo: N.A. | ||||
| Immunoglobulins (mg/dl) | |||||
| IgG | 1,163a | 914a | 1,420a | 4 mo: 85 (L) | Adult: 540–1,822 |
| 25 mo: 916a | 4 mo: 311–664 | ||||
| IgA | 8 (L) | <5 (L) | 10 (L) | 4 mo: 15 | Adult: 101–645 |
| 25 mo: <5 (L) | 4 mo: 0–42 | ||||
| IgM | <5 (L) | <5 (L) | <5 (L) | 4 mo: 57 | Adult: 22–240 |
| 25 mo: <5 (L) | 4 mo: 0–127 | ||||
H and L indicate values above and below the age-matched normal range, respectively. Adult reference values are from in-house, and pediatric reference values are from Children’s Hospital Colorado and the published ranges (Nathan and Oski, 1987). For the pediatric index patient A.III.1, laboratory tests at two different time points (21 mo [upper line; 4 mo for immunoglobulins] and 25 mo [bottom line]) are shown. ALC, absolute lymphocyte count; N.A., not applicable; RTE, recent thymic emigrant; T reg, regulatory T cell.
Patient on intravenous immunoglobulin.