Table 1.
Clinical Laboratory Studies
| Patient – 2.5 yoa | Father – 37 yoa | |
|---|---|---|
| Lymphocyte Subpopulations | ||
| Absolute lymphocyte count (lymphocytes/μl) | 5840† (3000–9500) | 1270 (1000–4800) |
| CD3+ | 5251 (1400–8000) | 916 (700–2100) |
| CD4+ | 4210 (900–5500) | 533 (300–1400) |
| CD8+ | 967 (400–2300) | 344 (200–900) |
| CD4/CD8 Ratio | 4.5* (0.9–3.7) | 1.5 (1.0–3.6) |
| CD16+/CD56+ | 673 (100–1400) | 175 (90–600) |
| CD19+ | 1336 (600–3100) | 219 (100–500) |
| Naïve, mature B cells (CD19+/CD27−/IgD+/IgM+) % of CD19+ |
80% (72–87%) | 54% (33–76%) |
| Marginal zone memory B cells (CD19+/CD27+/IgD+/IgM+) % of CD19+ |
16% (7–20%) | 22% (8–34%) |
| Class-switched memory B cells (CD19+/CD27+/IgM−/IgD−) % of CD19+/% of CD27+ |
0.7%/4%* (0.7–7.2%)/(6–30%) |
13.6%/33% (4.7–22.1%)/(19–53%) |
| CD19+/BAFFR+ % of CD19+ |
92.4% (>90.2%) | ND |
| CD19+/TACI+ (CD267) % of CD19+ |
22.8% (>3.4%) | ND |
| CD4+ Naïve T cells (CD45RA+/CD27+) (CD45RA+/RO−) % of CD3+CD4+ |
85.7% (73.6–91.7%) 83% (46–83%) |
ND |
| CD4+ Total Memory T cell (CD45RA−/CD27+) (CD45RA−/RO+) % of CD3+CD4+ |
14.6% (13.9–32.3%) 5% (4–36%) |
ND |
| CD4+ Memory Tcm cells (CD45RO+/CCR7+) % of CD4+ memory cells |
21.1% (20.7–46.0%) | ND |
| CD4+ Memory Tem cells (CD45RO+/CCR7−) % of CD4+ memory cells |
16.8%* (30.5–61.7%) | ND |
| CD8+ Naïve T cells (CD45RA+/CD27+) (CD45RA+/RO−) % of CD3+CD8+ |
94.5% (77.7–98.4%) 93% (41–100%) |
ND |
| CD8+ Total Memory T cell (CD45RA−/CD27+) (CD45RA−/RO+) % of CD3+CD8+ |
5.3%* (7.2–23.9%) 2% (0–40%) |
ND |
| CD8+ Memory Tcm cells (CD45RO+/CCR7+) % of CD8+ memory cells |
8.4% (0.0–29.7%) | ND |
| CD4+ Memory Tem cells (CD45RO+/CCR7−) % of CD4+ memory cells |
20.6% (19.7–59.1%) | ND |
| TCR-variable β chain: 24 marker panel β-2 β-9 β-11 β-12 β-13.6 β-20 β-21.3 % of CD3+ |
All markers within normal range, except those minor deviations listed below 9.53%* (4.16–8.91%) 1.01%* (2.62–4.15%) 3.62%* (0.81–1.5%) 2.28%* (1.08–1.93%) 2.83%* (1.29–2.5%) 0.52%* (1.19–4.6%) 2.66%* (1.69–2.56%) |
ND |
| Immunoglobulins | ||
| IgG (mg/dL) | 173* (400–1250) | 1160 (600–1500) |
| IgG1 | 134* (290–850) | ND |
| IgG2 | 28* (45–260) | ND |
| IgG3 | 9* (15–113) | ND |
| IgG4 | 21 (≤79) | ND |
| IgM (mg/dL) | 12.1* (41–164) | 77 (60–263) |
| IgA (mg/dL) | <6* (14–105) | 111 (68–378) |
| IgE (IU/mL) | 3 (2–97) | 19 (2–214) |
| Vaccine Response | ||
| Tetanus IgG (IU/mL) | 0.1* (>0.1) | 27.1 (>0.1) |
| Diphtheria IgG | 0* (>0.1) | 3.1 (>0.1) |
| Pneumococcal IgG (mcg/mL) |
≥1.5 in 2 of 14 serotypes (post Prevnar-13 series) |
≥1.5 in 8 of 14 serotypes (pre-vaccination) |
| T-Cell Function | ||
| Mitogens (PHA, ConA, PWM) | All Normal (>135190 cpm, >73522 cpm, >26677 cpm, respectively) | ND |
| pSTAT5 Tyrosine Phosphorylation, CD4+ T cells | 40% (10–47%) | ND |
| Antigen stimulation: Tetanus | 243*, 1 month post-DTaPˆ booster. 416 * 12 months post-booster. (≥4761 cpm) |
ND |
| Antigen stimulation: Candida | 786* (≥15289 cpm) | ND |
| TCR stimulation: PBMCs -Anti-CD3 Ab alone -Anti-CD3 Ab+anti-CD28 Ab - Anti-CD3 Ab+IL-2 % CD3+ proliferating. |
3.8%* (≥20.3%) 20.6%* (≥44.6%) 30.6%* (≥46.2%) |
ND |
| Endocrinology | ||
| Cortisol # (mcg/dL) | 19 (3–21) | ND |
| ACTH # (pg/mL) | 17 (4–46) | ND |
| Anti-thyroid antibodies (IU/mL) | Thyroglobulin Ab, <10 (10–114) Thyroid Peroxidase Ab, <5 (5–33) |
ND |
| Genetics: Exome Sequencing, Select Variants | ||
| Patient | Parents (Father/Mother) | |
| NFKB2 | c.2598-2599insT (p.A867Cfs*19), heterozygous | WT/WT |
| TNFRSF13B (aka TACI, CD267) | c.706G>T (p.E236*) rs201021960, heterozygous | c.706G>T (p.E236*) rs201021960, heterozygous/WT |
Values in parentheses indicate clinically validated, age matched control ranges/values.
†
Average value during a 1-year period
*
Indicates abnormal value
Abbreviations: yoa, years of age; moa, months of age; Tcm, Central Memory T cell; Tem, Effector Memory T cell; PHA, phytohemagglutinin; ConA, concanavalin A; PWM, pokeweed mitogen; ND, not done; cpm, count per minute; PBMC, peripheral blood mononuclear cells; ACTH, Adrenocorticotropic hormone; Ab, antibody; WT, wild-type.
ˆ
DTaP = Diphtheria, Tetanus, acellular Pertussis vaccine, 4th dose at 18 moa
#
= Assay drawn at 8 am.