Table E2.
Clinical data and significant laboratory findings at WAS diagnosis
| Age of onset/diagnosis of disease | Neonatal/11.6 y |
| Genetic analyses (whole-genome sequencing) | inv(X)g.5721-11840 |
| Clinical manifestations | Microthrombocytopenia Mild eczema, severe infections, arthritis, vasculitis Multiple Henoch-Schonlein purpura episodes Nephritic-nephrotic syndrome, panuveitis Steroid-resistant Chron enterocolitis Perianal fistulas and abscesses PG |
| Zhu score | 5AE1 |
| WBC (×109/L) (normal value, 4.8-10.8 × 109/L) | 14.4 |
| Neutrophils (×109/L) (normal value, 1.8-7.7 × 109/L) | 12.7 |
| Lymphocytes (×109/L) | 1 |
| Platelets range (×109/L) | 20-40 |
| MPV (fl) (normal value, 9.1-12.5) | 8 |
| CD3+ (cells/μL) (normal value, 1000-2100)E2 | 498 |
| CD3+CD4+ (cells/μL) (normal value, 500-1300)E2 | 364 |
| CD3+CD8+ (cells/μL) (normal value, 220-950)E2 | 91 |
| CD19+ (cells/μL) (normal value, 180-600)E2 | 101 |
| CD16+CD56+ (cells/μL) (normal value, 170-670)E2 | 338 |
| CD4+CD45RA+ (cells/μL) (normal value, 320-1000)E3 | 152 |
| CD4+CD45RO+ (cells/μL) (normal value, 230-630)E3 | 201 |
| CD8+CD45RA+ (cells/μL) (normal value, 310-900)E3 | 159 |
| CD8+CD45RO+ (cells/μL) (normal value, 70-390)E3 | 40 |
| Vβ repertoire | Polyclonal on CD3+ |
| IgG (g/L) (normal value, 7.07-19.19)E4 | 7.69 (on IVIG supplementation) |
| IgA (g/L) (normal value, 0.60-2.7)E4 | 6.68 |
| IgM (g/L) (normal value, 0.61-2.76)E4 | 0.33 |
| Autoimmunity screening∗ | Negative |
| Antiplatelets antibody (indirect test) | Positive |
| LLAC | Negative |
ACA, Anticardiolipin antibody; AMA, antimitochondrial antibody; ANA, antinuclear antibody; ASCA, anti–Saccharomyces cerevisiae antibody; ASMA, anti–smooth muscle antibody; cANCA, cytoplasmic antineutrophilic cytoplasmic antibodies; ds-DNA, double-strand DNA antibody; ENA, extractable nuclear antibodies; IVIG, intravenous immunoglobulin; LLAC, lupus-like anticoagulant; LKM1, liver kidney microsomal type 1 antibody; pANCA, protoplasmic antineutrophilic cytoplasmic antibodies; WBC, white blood cell.
∗
Including Coombs test, ANA, ENA, AMA, ASMA, anti–LKM1 antibody, anti–dS-DNA antibody, ASCA, cANCA, pANCA, ACA, and anti–β2 glicoprotein antibody.