Summary of phenotypes in affected individuals of a family with the WASp p.I294T variant
| . | Patients . | ||||
|---|---|---|---|---|---|
| . | II.3 . | III.3 . | III.4 . | IV.2 . | IV.3 . |
| Renal features | |||||
| Renal failure leading to ESRD | No | Yes, followed by renal transplantation | Yes, and death at age 24 | No | No |
| Renal disease: age of diagnosis | Fifth decade | Albuminuria at age 10 | Second to third decade | Third decade | Third decade |
| Proteinuria | Yes, 500 mg-1 g/d | 2-3 g/d | NA | 1-2 g/d under antiproteinuric treatment | 0.5 g/d under antiproteinuric treatment |
| Renal biopsy | NA, No biopsy | Yes, when renal failure had not yet started | NA, biopsy failed | No | Yes |
| Light microscopy | NA | Discrete endocapillary hypercellularity. Signs of albuminuria (intratubular droplets). No other lesions | NA | NA | No lesions observed |
| Immunostaining | NA | No deposits of IgG, IgM, IgA, fibrinogen, C3 | NA | NA | Rare unspecific C3 deposits |
| Electron microscopy | NA | Discrete mesangial hypercellularity, signs of albuminuria (intratubular droplets), no other lesions or deposits | NA | NA | Slight mesangial hypercellularity, no deposits observed |
| Hematological features | |||||
| Platelet involvement | Yes | Yes | NA | Yes, discrete | Yes, discrete |
| Platelet count | 90 Giga/L | Variable: 35-100 Giga/L | 135-160 Giga/L | 150 Giga/L | |
| Platelet aggregation tests | NA | Normal | NA | Normal | Normal |
| Mean platelet volume | 15-18 femtoliters | 17-19 femtoliters | NA | 12.5-13 femtoliters | 13 femtoliters |
| Platelet anisocytosis | Yes | Yes | NA | Yes | Yes |
| Döhle bodies | No | No | NA | No | No |
| Immature platelet fraction | NA | 40% | NA | 14.2% | 17.0% |
| Neutropenia | Yes | Yes | NA | Yes | Yes |
| Neutrophil count | Variable, 0.15-1.5 Giga/L | 0.35-0.5 Giga/L | NA | Variable 0.8-1.6 Giga/L | 1.6 Giga/L |
| Infections | Few | Occasionally severe after transplantation (ENT, 2 episodes of pneumonia) | Frequency unknown, died of sepsis during hemodialysis | Few | Few |
| Hemorrhagic syndrome | No | No | NA | No | No |
| Other features | |||||
| Visual or hearing impairment | No | No | NA | No | No |
| . | Patients . | ||||
|---|---|---|---|---|---|
| . | II.3 . | III.3 . | III.4 . | IV.2 . | IV.3 . |
| Renal features | |||||
| Renal failure leading to ESRD | No | Yes, followed by renal transplantation | Yes, and death at age 24 | No | No |
| Renal disease: age of diagnosis | Fifth decade | Albuminuria at age 10 | Second to third decade | Third decade | Third decade |
| Proteinuria | Yes, 500 mg-1 g/d | 2-3 g/d | NA | 1-2 g/d under antiproteinuric treatment | 0.5 g/d under antiproteinuric treatment |
| Renal biopsy | NA, No biopsy | Yes, when renal failure had not yet started | NA, biopsy failed | No | Yes |
| Light microscopy | NA | Discrete endocapillary hypercellularity. Signs of albuminuria (intratubular droplets). No other lesions | NA | NA | No lesions observed |
| Immunostaining | NA | No deposits of IgG, IgM, IgA, fibrinogen, C3 | NA | NA | Rare unspecific C3 deposits |
| Electron microscopy | NA | Discrete mesangial hypercellularity, signs of albuminuria (intratubular droplets), no other lesions or deposits | NA | NA | Slight mesangial hypercellularity, no deposits observed |
| Hematological features | |||||
| Platelet involvement | Yes | Yes | NA | Yes, discrete | Yes, discrete |
| Platelet count | 90 Giga/L | Variable: 35-100 Giga/L | 135-160 Giga/L | 150 Giga/L | |
| Platelet aggregation tests | NA | Normal | NA | Normal | Normal |
| Mean platelet volume | 15-18 femtoliters | 17-19 femtoliters | NA | 12.5-13 femtoliters | 13 femtoliters |
| Platelet anisocytosis | Yes | Yes | NA | Yes | Yes |
| Döhle bodies | No | No | NA | No | No |
| Immature platelet fraction | NA | 40% | NA | 14.2% | 17.0% |
| Neutropenia | Yes | Yes | NA | Yes | Yes |
| Neutrophil count | Variable, 0.15-1.5 Giga/L | 0.35-0.5 Giga/L | NA | Variable 0.8-1.6 Giga/L | 1.6 Giga/L |
| Infections | Few | Occasionally severe after transplantation (ENT, 2 episodes of pneumonia) | Frequency unknown, died of sepsis during hemodialysis | Few | Few |
| Hemorrhagic syndrome | No | No | NA | No | No |
| Other features | |||||
| Visual or hearing impairment | No | No | NA | No | No |
ENT, ears, nose & throat; ESRD, end-stage renal disease; F, female; M, male; NA, not available.