Timeline of clinical events for an infant with ITGB2 c.850G>A (p.Gly284Ser) and ITGB2 c.314T>C (p.Leu105Pro) variants concerning for moderate LAD-1 (by integrin expression profile)
| Age . | Clinical presentation . | Laboratory dataa . |
|---|---|---|
| 1 mo and 23 days old | Bilateral pneumonia requiring intubation (as well as re-intubation) | WBC 30,080/mm3 (6,900–15,700/mm3) ANC 20,980/mm3 (1,400–6,400/mm3) ALC 6,340/mm3 (2,800–8,300/mm3) Positive PCR for mycoplasma, RSV, rhinovirus/enterovirus and coronavirus. |
| 2 mo and 11 days old | Peak leukocytosis and neutrophilia on same day as re-intubation for respiratory failure due to pneumonia (same hospitalization for aforementioned pneumonia/intubation above) | WBC 69,250/mm3 ANC 63,710/mm3 Pseudomonas identified on sputum culture during re-intubation |
| 3 mo and 28 days old | Left lower lobe pneumonia, bilateral otitis media including left tympanic membrane rupture, tinea capitis. Rehospitalization compared to above | WBC 51,710/mm3 (6,900–15,700/mm3) ANC 33,460/mm3 (1,400–6,400/mm3) ALC 11,550/mm3 (2,800–8,300/mm3) IgG 843 mg/dl (196–558 mg/dl) IgM 161 mg/dl (27–101 mg/dl) IgA 42 mg/dl (4.4–73 mg/dl) IgE 32.6 IU/ml (0.18–3.76 IU/ml) Diphtheria IgG 0.37 IU/ml (≥0.10 IU/ml) Tetanus IgG 0.60 IU/ml (≥0.10 IU/ml) Pneumococcal IgG titers following one PCV20 revealed seven serotype-specific titers in the protective range at ≥1.3 μg/ml |
| 4 mo and 19 days old | Balanitis and scrotal cellulitis without erythema | WBC 37,140/mm3 (6,900–15,700/mm3) ANC 17,780/mm3 (1,400–6,400/mm3) ALC 14,990/mm3 (2,800–8,300/mm3) Flow cytometry: CD11b expression of 16% and CD18 expression of 6% compared with healthy control subjects |
| 4 mo and 26 days old | (At baseline health status) | WBC 26,430/mm3 (6,900–15,700/mm3) ANC 5,860/mm3 (1,400–6,400/mm3) Immature granulocytes 90/mm3; (0–50/mm3) ALC 17,920/mm3 (2,800–8,300/mm3) |
| 6 mo and 6 days old | (At baseline health status) | WBC 22,130/mm3 (5,980–13,510/mm3) ANC 3,620/mm3 (1,190–7,210/mm3) ALC 16,600/mm3 (1,560–7,830/mm3) AEC 620/mm3 (30–350/mm3). |
| 6 mo and 27 days old | (At baseline health status) | WBC 27,850/mm3 (5,980–13,510/mm3). ANC 4,310/mm3 (1,190–7,210/mm3). ALC 21,530/mm3 (1,560–7,830/mm3). AEC 290/mm3 (30–350/mm3) CD3+ cells 13,182/mm3 (2,500–5600/mm3); 61% of lymphocytes (49–76%) CD4+ cells 9,221/mm3 (1,800–4,000/mm3); 43% of lymphocytes (31–56%) CD8+ cells 2,577/mm3 (590–1,600/mm3); 12% of lymphocytes (12–24%) CD19+ cells 6,116/mm3 (430–3,000/mm3); 28% of lymphocytes (14–37%) CD16+ cells 2,452/mm3 (170–830/mm3); 11% of lymphocytes (3–15%) |
| Age . | Clinical presentation . | Laboratory dataa . |
|---|---|---|
| 1 mo and 23 days old | Bilateral pneumonia requiring intubation (as well as re-intubation) | WBC 30,080/mm3 (6,900–15,700/mm3) ANC 20,980/mm3 (1,400–6,400/mm3) ALC 6,340/mm3 (2,800–8,300/mm3) Positive PCR for mycoplasma, RSV, rhinovirus/enterovirus and coronavirus. |
| 2 mo and 11 days old | Peak leukocytosis and neutrophilia on same day as re-intubation for respiratory failure due to pneumonia (same hospitalization for aforementioned pneumonia/intubation above) | WBC 69,250/mm3 ANC 63,710/mm3 Pseudomonas identified on sputum culture during re-intubation |
| 3 mo and 28 days old | Left lower lobe pneumonia, bilateral otitis media including left tympanic membrane rupture, tinea capitis. Rehospitalization compared to above | WBC 51,710/mm3 (6,900–15,700/mm3) ANC 33,460/mm3 (1,400–6,400/mm3) ALC 11,550/mm3 (2,800–8,300/mm3) IgG 843 mg/dl (196–558 mg/dl) IgM 161 mg/dl (27–101 mg/dl) IgA 42 mg/dl (4.4–73 mg/dl) IgE 32.6 IU/ml (0.18–3.76 IU/ml) Diphtheria IgG 0.37 IU/ml (≥0.10 IU/ml) Tetanus IgG 0.60 IU/ml (≥0.10 IU/ml) Pneumococcal IgG titers following one PCV20 revealed seven serotype-specific titers in the protective range at ≥1.3 μg/ml |
| 4 mo and 19 days old | Balanitis and scrotal cellulitis without erythema | WBC 37,140/mm3 (6,900–15,700/mm3) ANC 17,780/mm3 (1,400–6,400/mm3) ALC 14,990/mm3 (2,800–8,300/mm3) Flow cytometry: CD11b expression of 16% and CD18 expression of 6% compared with healthy control subjects |
| 4 mo and 26 days old | (At baseline health status) | WBC 26,430/mm3 (6,900–15,700/mm3) ANC 5,860/mm3 (1,400–6,400/mm3) Immature granulocytes 90/mm3; (0–50/mm3) ALC 17,920/mm3 (2,800–8,300/mm3) |
| 6 mo and 6 days old | (At baseline health status) | WBC 22,130/mm3 (5,980–13,510/mm3) ANC 3,620/mm3 (1,190–7,210/mm3) ALC 16,600/mm3 (1,560–7,830/mm3) AEC 620/mm3 (30–350/mm3). |
| 6 mo and 27 days old | (At baseline health status) | WBC 27,850/mm3 (5,980–13,510/mm3). ANC 4,310/mm3 (1,190–7,210/mm3). ALC 21,530/mm3 (1,560–7,830/mm3). AEC 290/mm3 (30–350/mm3) CD3+ cells 13,182/mm3 (2,500–5600/mm3); 61% of lymphocytes (49–76%) CD4+ cells 9,221/mm3 (1,800–4,000/mm3); 43% of lymphocytes (31–56%) CD8+ cells 2,577/mm3 (590–1,600/mm3); 12% of lymphocytes (12–24%) CD19+ cells 6,116/mm3 (430–3,000/mm3); 28% of lymphocytes (14–37%) CD16+ cells 2,452/mm3 (170–830/mm3); 11% of lymphocytes (3–15%) |
AEC, absolute eosinophil count; ALC, absolute lymphocyte count; ANC, absolute neutrophil count; WBC, white blood cell count.
Reference ranges are shown in parentheses.