Findings at time of diagnosis
| . | . | Reference values . | Patient 1 . | Patient 2 . |
|---|---|---|---|---|
| Initial immune evaluation | CD3 | 1,600–6,700 × 106/L | 350 | 239 |
| CD4 | 1,000–4,600 × 106/L | 129 | 179 | |
| CD8 | 400–2,100 × 106/L | 256 | 55 | |
| CD19 | 600–2,700 × 106 | 4 | 14.4 | |
| CD (15 + 56) | 200–1,200 × 106/L | 9 | 47 | |
| RTE | 900–5,800 × 106/L | 20 | 30 | |
| PHA (CD3 percentage) | ≥60.8% | 29.6% of control | Not done | |
| IgG | 1.3–6.8 g/L | 9.2 | 9.5 | |
| IgA | ≤0.2 g/L | 0.5 | 0.57 | |
| IgM | 0.2–0.9 g/L | 0.53 | 2.5 | |
| IgE | ≤36 µg/L | 93.4 | 93 | |
| Anti-tetanus toxoid IgG | <0.10 IU/ml indicates no detectable antibodies present | 1.89 IU/ml | 0.49 IU/ml | |
| Anti-diphtheria toxoid IgG | <0.10 IU/ml indicates no detectable antibodies present | 0.19 IU/ml | 0.17 IU/ml | |
| Age of onset of symptoms | | 4 years | 6 mo | |
| Past infections at presentation | | | Cellulitis, bullous impetigo, sinusitis, and 1 episode of shingles | Recurrent sinopulmonary infections |
| 3 hospital admissions (between ages 8–11 mo): | ||||
| Influenza A+ with superimposed bacterial pneumonia and bilateral AOM | ||||
| Coronavirus OC43+ with pneumonia requiring i.v. antibiotics and oxygen supplementation | ||||
| Rhinovirus+ with superimposed pneumonia requiring i.v. antibiotics and high-flow nasal cannula oxygen therapy | ||||
| Hearing impairment | | None | None | |
| Other complications | | None | Suspected pulmonary alveolar proteinosis (chronic lung changes) | |
| Neurodevelopmental complications | | None | None | |
| Age at diagnosis | | 6 years | 11 mo | |
| dAXP (% dAXP) at diagnosis (Duke University) | <0.002 µmol/L (<0.2%) | 0.293 µmol/L (13.8%) | 0.358 µmol/L (18.1%) | |
| AXP at diagnosis (Duke University) | 1.465 ± 0.38 µmol/L | 1.829 µmol/L | 1.625 µmol/L | |
| Deoxyadenosine at diagnosis (NSO) | 0.1–0.4 µmol/L | 15.1 µmol/L | Not done | |
| . | . | Reference values . | Patient 1 . | Patient 2 . |
|---|---|---|---|---|
| Initial immune evaluation | CD3 | 1,600–6,700 × 106/L | 350 | 239 |
| CD4 | 1,000–4,600 × 106/L | 129 | 179 | |
| CD8 | 400–2,100 × 106/L | 256 | 55 | |
| CD19 | 600–2,700 × 106 | 4 | 14.4 | |
| CD (15 + 56) | 200–1,200 × 106/L | 9 | 47 | |
| RTE | 900–5,800 × 106/L | 20 | 30 | |
| PHA (CD3 percentage) | ≥60.8% | 29.6% of control | Not done | |
| IgG | 1.3–6.8 g/L | 9.2 | 9.5 | |
| IgA | ≤0.2 g/L | 0.5 | 0.57 | |
| IgM | 0.2–0.9 g/L | 0.53 | 2.5 | |
| IgE | ≤36 µg/L | 93.4 | 93 | |
| Anti-tetanus toxoid IgG | <0.10 IU/ml indicates no detectable antibodies present | 1.89 IU/ml | 0.49 IU/ml | |
| Anti-diphtheria toxoid IgG | <0.10 IU/ml indicates no detectable antibodies present | 0.19 IU/ml | 0.17 IU/ml | |
| Age of onset of symptoms | | 4 years | 6 mo | |
| Past infections at presentation | | | Cellulitis, bullous impetigo, sinusitis, and 1 episode of shingles | Recurrent sinopulmonary infections |
| 3 hospital admissions (between ages 8–11 mo): | ||||
| Influenza A+ with superimposed bacterial pneumonia and bilateral AOM | ||||
| Coronavirus OC43+ with pneumonia requiring i.v. antibiotics and oxygen supplementation | ||||
| Rhinovirus+ with superimposed pneumonia requiring i.v. antibiotics and high-flow nasal cannula oxygen therapy | ||||
| Hearing impairment | | None | None | |
| Other complications | | None | Suspected pulmonary alveolar proteinosis (chronic lung changes) | |
| Neurodevelopmental complications | | None | None | |
| Age at diagnosis | | 6 years | 11 mo | |
| dAXP (% dAXP) at diagnosis (Duke University) | <0.002 µmol/L (<0.2%) | 0.293 µmol/L (13.8%) | 0.358 µmol/L (18.1%) | |
| AXP at diagnosis (Duke University) | 1.465 ± 0.38 µmol/L | 1.829 µmol/L | 1.625 µmol/L | |
| Deoxyadenosine at diagnosis (NSO) | 0.1–0.4 µmol/L | 15.1 µmol/L | Not done | |
NSO, newborn screening Ontario; AXP, total adenosine nucleotides; % dAXP = [dAXP]/[AXP + dAXP] × 100; RTE, recent thymic emigrants; PHA, phytohemagglutinin (T cell mitogen used in lymphocyte proliferation assays).