Table 1.
Laboratory workup of the patient (aged 17).
| Hematology |
|---|
| WBC 2.41 × 103, RBC 3.36 × 106, MCV 89.0 fl, PLT 105 × 103, lymphocytes 21.2% (510 cc/mcL), neutrophils 63.1% (1,520 cc/mcL) |
| APTT 51.7 s (25.9–36.6 s), prothrombin index 72.4% (80.0–120.0%), INR 1.37 (0.85–1.25), AT 54% (75.0–125.0%) |
| Biochemistry |
| CRP 0.22 mg/dL (<0.50 mg/dL), D-dimer 5.08 mg/L (<0.55) |
| Protein 4.57 g/dL (5.7–8.0 g/dL), Albumin 2,815 mg/dL (3,500–5,200 mg/dL) |
| Fibrinogen 124 mg/dL (180–350 mg/dL) |
| GOT 11 IU/L (<50 IU/L), GPT 30 IU/L (<50 IU/L), γGT 251 IU/L (2–42 IU/L) |
| LDH 214 IU/L (<248 IU/l) |
| Ferritin 115 mcg/L (15–250 mcg/L) |
| AFP 129.7 ng/mL (<7 ng/mL), CEA 0.75 ng/mL (<5.0 ng/mL) |
| Immunology |
• Immunoglobulins
|
| • Peripheral blood (PB) leukocyte immunophenotype |
| WBC 1,540 cc, lymphocytes CD45+/SSC low 20.0%, 305 cc (29–46%, 1,200–4,100 cc), B CD19+ 1.0%, 2 cc (7–22%, 100–820 cc), T CD3+ 77.0%, 264 cc (50–91%, 780–3,000 cc) |
| T helper CD3+CD4+ 52.0%, 176 cc (28–64%, 500–2,000 cc), T suppressor/cytotoxic CD3+CD8+ 19.0%, 65 cc (12–40%, 200–1,200 cc) CD4+/CD8+ 2.68 |
| NK CD3–CD45+CD16+CD56+ 10.0%, 35 cc (5–49%, 100–1,200 cc) |
| Recent thymic emigrants CD3+CD4+CD45RA+CD31+: 1.1%, 2 cc (7–90%, 50–2,400 cc) |
| Naïve T helper CD3+CD4+CD45RA+CD27+ 0.7%, 1 cc (16–90%, 100–2,300 cc) |
| Central memory T helper CD3+CD4+CD45RA–CD27+ 40.5%, 71 cc (18–95%, 180–1,100 cc) |
| Effector memory T helper CD3+CD4+CD45RA–CD27– 58.5%, 103 cc (1–23%, 13–220 cc) |
| Terminally differentiated memory T helper CD3+CD4+CD45RA+CD27– 0.2%, 0 cc (0–7%, 0.0–0.7 cc) |
| Follicular CXCR5+ T helper CD3+CD4+CD45RO+CD185+ 4.7%, 8 cc (5–56%, 24–190 cc) |
| Regulatory T helper CD3+CD4+CD25++CD127– 3.2%, 6 cc (4–17%, 25–180 cc) |
| Naïve T suppressor/cytotoxic CD3+CD8+CD27+CD197+ 41.8%, 27 cc (6–90%, 16–1,000 cc) |
| Central memory T suppressor/cytotoxic CD3+CD8+CD45RA–CD27+CD197+ 10.4%, 7 cc (1–20%, 4–120 cc) |
| Effector memory T suppressor/cytotoxic CD3+CD8+CD45RA–CD27–CD197– 6.9%, 5 cc (14–98%, 40–640 cc) |
| Terminally differentiated T suppressor/cytotoxic CD3+CD8+CD45RA+CD27–CD197– 5.0%, 3 cc (7–53%, 25–280 cc) |
| Comment: lymphopenia, almost total lack of B cells, low T CD4+ and CD8+ cells, almost total lack of naïve T helper cells and recent thymic emigrants, with predominance of T helper effector cells, low effector and terminally differentiated T suppressor/cytotoxic cells |
| Microbiology |
| • EBV-DNA 135 copies/mL, HBV, HCV, CMV RT-PCR in PB negative |
| • VZV, Enterovirus, Adenovirus, Parechovirus, hPVB19, HSV1.2, HHV6.7 RT-PCR in PB negative |
| • Influenza virus A, AH1N1, B, Coronavirus NL63, 229E, OC43, HKU1, Parainfluenza virus 1,2,3,4, Metapneumovirus A,B, Bocavirus, RSV A,B, Rhinovirus, Adenovirus, Enterovirus, Parechovirus, Mycoplasma pneumoniae, Chlamydophila pneumoniae, Streptococcus pneumoniae, Staphylococcus aureus RT-PCR in nasopharyngeal aspirate negative |
| • Tracheal aspirate culture: negative |
| • Pneumocystis jiroveci-DNA in tracheal aspirate negative |
| • Mycobacterium tuberculosis (Mtb) in tracheal aspirate, Mtb-DNA negative |
| • Borrelia burgdorferi IgM negative |
| • Bartonella henselae-DNA, Toxoplasma gondii-DNA, Toxocara canis-DNA in PB negative |
| • HIV-RNA negative |
| • Galactomannan (Aspergillus antigen) in PB negative |
| Histology |
| • Bone marrow aspiration: normal cellularity; no features of malignant transformation; cytogenetics: deletions (5q–, 7q–, and 20q–) not found |
| • Skin biopsy: atypical granuloma annulare |
| • Biopsy of the larynx: infiltrations with reactive T CD8+ lymphocytes and CD68+ histiocytes, CD4+:CD8+ ratio < <1; 30% cells express Ki67; TdT, CD34, CALLA, CD1a, LMP EBV, CD30 TNFRSF8, and MPO not detected |