Biological and clinical features of Src p.E527 carriers
| ID . | Sex . | Age at diagnosis . | Bleeding score . | Platelet count at diagnosis (×109/L) . | Last platelet count (×109/L) (% IPF) . | Splenomegaly/splenectomy . | Neurological complications . | Immune defects . | Relevant infection complications . | Thrombosis . |
|---|---|---|---|---|---|---|---|---|---|---|
| 2* | F | Unknown | Unknown | Unknown | 203 (Nr) | Yes/yes (<30 y) | Epilepsy; SUDEP | Unknown | Unknown | Unknown |
| 3 | M | 3 y | 9 | 57 | 83 (Nr) | Yes/yes (13 y) | No | Plaque psoriasis; uvular angioedema; partial IgM deficiency | Recurrent tonsillitis >2 episodes/y | No |
| 6 | F | 8 y | 1 | 96 | 134 (27.2) | Yes/yes (14 y) | No | No | Pityriasis versicolor | No |
| 7 | M | 6 y | 4 | 98 | 177 (17.6) | Yes/yes (21 y) | Complex epileptic seizures | Psoriasis; severe bronchial asthma; ileal Crohn disease; autoimmune pleuropericarditis; partial IgM deficiency | Upper respiratory (>1/y); epididymo-orchitis. Pityriasis versicolor; papulopustular acne | Portal thrombosis and pulmonary embolism; jugular vein thrombosis |
| 9 | M | 6 d | 3 | 38 | 17 (36.9) | Yes/no | Megacisterna magna (asymptomatic) | Intrinsic bronchial asthma; partial IgA deficiency | Recurrent bronchitis (>3/y). Pityriasis versicolor | No |
| 11 | M | 3 d | 3 | 70 | 66 (16.1) | NR/no | Speech and language impairment | Atopic dermatitis; bronchial hyperreactivity | Recurrent bronchitis, >2 episodes/y | No |
| 12 | F | 6 y | 4 | 71 | 105 (40.0) | NR/no | Anxiety and behavior abnormalities | No | Otitis media; upper respiratory (<2 episodes/y) | Deep vein thrombosis |
| 13 | F | 10 y | 0 | 139 | 114 (NR) | NR/no | No | No | Upper respiratory (>2 episodes/y) | No |
| ID . | Sex . | Age at diagnosis . | Bleeding score . | Platelet count at diagnosis (×109/L) . | Last platelet count (×109/L) (% IPF) . | Splenomegaly/splenectomy . | Neurological complications . | Immune defects . | Relevant infection complications . | Thrombosis . |
|---|---|---|---|---|---|---|---|---|---|---|
| 2* | F | Unknown | Unknown | Unknown | 203 (Nr) | Yes/yes (<30 y) | Epilepsy; SUDEP | Unknown | Unknown | Unknown |
| 3 | M | 3 y | 9 | 57 | 83 (Nr) | Yes/yes (13 y) | No | Plaque psoriasis; uvular angioedema; partial IgM deficiency | Recurrent tonsillitis >2 episodes/y | No |
| 6 | F | 8 y | 1 | 96 | 134 (27.2) | Yes/yes (14 y) | No | No | Pityriasis versicolor | No |
| 7 | M | 6 y | 4 | 98 | 177 (17.6) | Yes/yes (21 y) | Complex epileptic seizures | Psoriasis; severe bronchial asthma; ileal Crohn disease; autoimmune pleuropericarditis; partial IgM deficiency | Upper respiratory (>1/y); epididymo-orchitis. Pityriasis versicolor; papulopustular acne | Portal thrombosis and pulmonary embolism; jugular vein thrombosis |
| 9 | M | 6 d | 3 | 38 | 17 (36.9) | Yes/no | Megacisterna magna (asymptomatic) | Intrinsic bronchial asthma; partial IgA deficiency | Recurrent bronchitis (>3/y). Pityriasis versicolor | No |
| 11 | M | 3 d | 3 | 70 | 66 (16.1) | NR/no | Speech and language impairment | Atopic dermatitis; bronchial hyperreactivity | Recurrent bronchitis, >2 episodes/y | No |
| 12 | F | 6 y | 4 | 71 | 105 (40.0) | NR/no | Anxiety and behavior abnormalities | No | Otitis media; upper respiratory (<2 episodes/y) | Deep vein thrombosis |
| 13 | F | 10 y | 0 | 139 | 114 (NR) | NR/no | No | No | Upper respiratory (>2 episodes/y) | No |
ID, number in family pedigree (Figure 1A); F, female; IPF, immature platelet fraction; M, male; NR, not recorded; SUDEP, sudden unexpected death in epilepsy.
Died.