Table 1 Hematological and immunological evaluation, phenotype and mutations in G6PC3 patients
| Â | Â | Patient | |
|---|---|---|---|
| Â | Â | 1 | 2 |
| Â | Eth | Italian | Turkish (consanguinous) |
| Â | Sex | F | M |
| Â | Current age (years) | 20 | 3 |
| Â | Infections prior to G-CSF therapy | Skin, pulmonary and brain abscess byS. Aureus | Otitis, parotitis,S. Viridanssepsis,S. Aureusgluteal abscess, recurrent aphtous stomatitis |
Blood cells count | White blood cells ^ (4.5-17) | 6,6 | 2,7 |
Neutrophils ^ (1.5-6.0 × 109/L) | 0,22 | 0,06 | |
Lymphocytes ^ (1.3-8.5 × 109/L) | 2,9 | 1,9 | |
Monocytes ^ (0.1-1.0 × 109/L | 3,4 | 0,7 | |
Platelet count ^ (150-450 cells/uL) | 610 | 347 | |
| Â | Intermittent thrombocytopenia | Yes (range 46-158 cells/uL) | No |
Serum Immunoglobulin concentrations | IgG (mg/dL) | 1.240 (231-947) | 974 (462-1710) |
IgA (mg/dl) | 54 (8-74) | 64 (27-173) | |
IgM (mg/dl) | 79 (26-210) | 118 (62-257) | |
IgE (kU/L) (n.v. < 95) | 3 | 7 | |
Lymphocyte subset (cells/uL) | CD3+ (770-1880) | 720 | 1287 |
CD3 + CD4+ ( 470-1240) | 373 | 805 | |
CD3 + CD8+ (215-730) | 318 | 426 | |
CD19+ (100-390) | 218 | 460 | |
CD16+ (70-550) | 69 | 79 | |
CD11b (PMN) | 98% | N.D. | |
CD18+ (PMN) | 100% | N.D | |
| Â | Extra haematological features | Facial dysmorphisms, | Facial dysmorphisms, |
| Â | mitral valve prolapse, | prominent veins, | |
| Â | prominent veins, | sensorineural hearing loss, | |
| Â | ligamentous laxity, | micropenis, coronal ipospadia. | |
| Â | inguinal hernia, | Â | |
| Â | delayed puberty, | Â | |
| Â | hypergonadotrophic hypogonadism | Â | |
| Â | G6PC3 | c.144C>A/c.373_375delAAT | c.680_684delinsT/ c.680_684delinsT |
| Â | Mutation | p.Y48*/ p.I125del | p.S227Lfs*3/ p.S227Lfs*3 |