Clinical presentation of P440S LCK patients
| Laboratory data upon presentation . | P1 . | P2 . |
|---|---|---|
| Age at presentation | First days after birth | 1.5 mo |
| Vaccination | BCG, Hep B at birth, Hep B, polio (oral), DTP, HiB at 2, 4, 6, 18 mo, MMR at 12 mo | BCG, Hep B at birth, Hep B, polio (oral), DTP, HiB at 2, 4, 6 mo |
| Clinical condition before HSCT | Age: 6.7 years Weight: 17.0 kg (<3rd percentile) Feeding via PEG Coarse “strawy” hair, thrush, distended abdomen, hepato-/splenomegaly Pulmonary CT: Bronchiectasis and emphysematous bulla left lower lobe | Age: 2.8 years Weight: 9.0 kg (<3rd percentile) Hepato-/splenomegaly |
| Complete blood count (reference ranges) | ||
| Leukocytes (cells/μl) | 6,500 (5,200–11,000) | 3,600 (5,200–11,000) |
| Hemoglobin (g/dl) | 11.2 (11.9–14.7) | 9.0 (10.8–12.8) |
| Platelet count (cells/μl) | 690,000 (247–436 × 10e3) | 202,000 (286–509 × 10e3) |
| Neutrophils (cells/μl) | 3,130 (2,000–9,000) | 1,510 (2,000–9,000) |
| Eosinophils (cells/μl) | 0 (80–600) | 0 (80–600) |
| Basophils (cells/μl) | 6 (0-120) | 0 (0–120) |
| Monocytes (cells/μl) | 710 (80–720) | 430 (80–720) |
| Lymphocytes (cells/μl) | 2,450 (2,300–5,400) | 1,656 (2,300–5,400) |
| T cell (CD3+) phenotype (reference ranges) | ||
| CD3+ (cells/μl) | 494 (1,400–3,700) | 298 (1,400–3,700) |
| CD3+CD4+ T cells (cells/μl) | 93 (700–2,200) | 232 (700–2,200) |
| CD3+CD8+ T cells (cells/μl) | 345 (490–1,300) | 33 (490–1,300) |
| Naïve T cells (% CD45RA+/CCR7+ of CD3+CD4+ cells/μl) | 1 (45–83) | 3 (45–83) |
| TCRαβ+/TCRγδ+ T cells (cells/μl) | 445 (1,320–3,780)/49 (90–500) | 248 (1,320–3,780)/33 (90–500) |
| TCRαβ+/TCRγδ+ T cells (% of CD3+) | 89/10 | 86/11 |
| TRECs (number of copies) | 0 (>8) | 0 (>8) |
| NK-like T cells (cells/μl) CD3+CD56+CD16+ | 25 (2–80) | 0 (2–80) |
| T cell (CD3+) function (% of control) | ||
| (SI, [% of control]) PHA CD3/CD28 MLC Tetanus Candidin | 111 (40) 101 (52) 10 (10) 1 (0) 6 (0) | 349 (34) 374 (54) 23 (11) 1 (0) 33 (41) |
| B cell phenotype (reference ranges) | ||
| CD19+ (cells/μl) | 963 (390–1,400) | 1291 (390–1,400) |
| Naïve B cells (% CD19+IgD+CD27− of CD19+ cells/μl) | 99 (47.3–77.0) | 99 (54.0–88.4) |
| Transitional B cells (% CD19+IgM++CD38++ of CD19+) | 50 (4.6–8.3) | 12 (3.1–12.3) |
| Memory B cells (% CD19+CD27+ of CD19+ cells/μl) | 0.5 (18.6–46.7) | 0.7 (7.8–37.1) |
| Switched memory B cells (% CD19+CD27+IgM− of CD19+ cells/μl) | 0 (10.9–30.4) | 0.1 (4.7–21.2) |
| Marginal zone–like B cells (% CD19+IgM+IgD+CD27+ of CD19+ cells/μl) | 0.4 (5.2–20.4) | 0.6 (2.7–19.8) |
| KRECs (number of copies) | 209 (>4) | 260 (>4) |
| Serum immunoglobulins | ||
| IgG serum level (g/liter) | 8.5a (2.9b) (5–14.6) | 7.5a (4.5–9.2) |
| IgM serum level (g/liter) | 0.26 (0.24–2.10) | 1.74 (0.19–1.46) |
| IgA serum level (g/liter) | 0.08 (0.27–1.95) | 0.76 (0.2–1.0) |
| Specific antibodiesb | Tetanus, S. pneumoniae | n.d |
| Laboratory data upon presentation . | P1 . | P2 . |
|---|---|---|
| Age at presentation | First days after birth | 1.5 mo |
| Vaccination | BCG, Hep B at birth, Hep B, polio (oral), DTP, HiB at 2, 4, 6, 18 mo, MMR at 12 mo | BCG, Hep B at birth, Hep B, polio (oral), DTP, HiB at 2, 4, 6 mo |
| Clinical condition before HSCT | Age: 6.7 years Weight: 17.0 kg (<3rd percentile) Feeding via PEG Coarse “strawy” hair, thrush, distended abdomen, hepato-/splenomegaly Pulmonary CT: Bronchiectasis and emphysematous bulla left lower lobe | Age: 2.8 years Weight: 9.0 kg (<3rd percentile) Hepato-/splenomegaly |
| Complete blood count (reference ranges) | ||
| Leukocytes (cells/μl) | 6,500 (5,200–11,000) | 3,600 (5,200–11,000) |
| Hemoglobin (g/dl) | 11.2 (11.9–14.7) | 9.0 (10.8–12.8) |
| Platelet count (cells/μl) | 690,000 (247–436 × 10e3) | 202,000 (286–509 × 10e3) |
| Neutrophils (cells/μl) | 3,130 (2,000–9,000) | 1,510 (2,000–9,000) |
| Eosinophils (cells/μl) | 0 (80–600) | 0 (80–600) |
| Basophils (cells/μl) | 6 (0-120) | 0 (0–120) |
| Monocytes (cells/μl) | 710 (80–720) | 430 (80–720) |
| Lymphocytes (cells/μl) | 2,450 (2,300–5,400) | 1,656 (2,300–5,400) |
| T cell (CD3+) phenotype (reference ranges) | ||
| CD3+ (cells/μl) | 494 (1,400–3,700) | 298 (1,400–3,700) |
| CD3+CD4+ T cells (cells/μl) | 93 (700–2,200) | 232 (700–2,200) |
| CD3+CD8+ T cells (cells/μl) | 345 (490–1,300) | 33 (490–1,300) |
| Naïve T cells (% CD45RA+/CCR7+ of CD3+CD4+ cells/μl) | 1 (45–83) | 3 (45–83) |
| TCRαβ+/TCRγδ+ T cells (cells/μl) | 445 (1,320–3,780)/49 (90–500) | 248 (1,320–3,780)/33 (90–500) |
| TCRαβ+/TCRγδ+ T cells (% of CD3+) | 89/10 | 86/11 |
| TRECs (number of copies) | 0 (>8) | 0 (>8) |
| NK-like T cells (cells/μl) CD3+CD56+CD16+ | 25 (2–80) | 0 (2–80) |
| T cell (CD3+) function (% of control) | ||
| (SI, [% of control]) PHA CD3/CD28 MLC Tetanus Candidin | 111 (40) 101 (52) 10 (10) 1 (0) 6 (0) | 349 (34) 374 (54) 23 (11) 1 (0) 33 (41) |
| B cell phenotype (reference ranges) | ||
| CD19+ (cells/μl) | 963 (390–1,400) | 1291 (390–1,400) |
| Naïve B cells (% CD19+IgD+CD27− of CD19+ cells/μl) | 99 (47.3–77.0) | 99 (54.0–88.4) |
| Transitional B cells (% CD19+IgM++CD38++ of CD19+) | 50 (4.6–8.3) | 12 (3.1–12.3) |
| Memory B cells (% CD19+CD27+ of CD19+ cells/μl) | 0.5 (18.6–46.7) | 0.7 (7.8–37.1) |
| Switched memory B cells (% CD19+CD27+IgM− of CD19+ cells/μl) | 0 (10.9–30.4) | 0.1 (4.7–21.2) |
| Marginal zone–like B cells (% CD19+IgM+IgD+CD27+ of CD19+ cells/μl) | 0.4 (5.2–20.4) | 0.6 (2.7–19.8) |
| KRECs (number of copies) | 209 (>4) | 260 (>4) |
| Serum immunoglobulins | ||
| IgG serum level (g/liter) | 8.5a (2.9b) (5–14.6) | 7.5a (4.5–9.2) |
| IgM serum level (g/liter) | 0.26 (0.24–2.10) | 1.74 (0.19–1.46) |
| IgA serum level (g/liter) | 0.08 (0.27–1.95) | 0.76 (0.2–1.0) |
| Specific antibodiesb | Tetanus, S. pneumoniae | n.d |
Age-matched reference values for B cell subpopulations taken from Piątosa et al. (2010); age-matched reference values for other blood cell counts taken from Shearer et al. (2003) or certified internal control series. Reference values are age matched. Abnormal values are in bold. Hep B: hepatitis B; DTP: diphtheria, tetanus, pertussis; HiB: hemophilus influenzae type B; MMR: measles, mumps, and rubella; PEG: percutaneous endoscopic gastrostomy; MLC: mixed lymphocyte culture.
IgG serum level after start of substitution.
Reported IgG serum level/specific antibodies before the start of substitution.