Clinical features of patients with identified pathogenic variants
| Gene and mode of inheritance . | Age at diagnosis of ITP, y . | Family history of thrombocytopenia . | Ethnicity . | Platelet count nadir, ×109/L . | Treatment for ITP . | Effect on management . | Reference . |
|---|---|---|---|---|---|---|---|
| ETV6 p.Arg369Trp Dominant missense variant | 47 | No | White | 34 | Limited/no response to splenectomy, azathioprine, steroids Complete response to romiplostim | Patient had gone through many ineffective immunosuppressive agents before romiplostim was licensed. | 22 |
| ANKRD26 c.-116C>G Dominant 5′UTR variant | 30 | No | Asian | 45 | Not required | Give platelets for procedures, monitor for malignancy | 23 |
| GP1BB p.Leu16Pro Dominant missense variant | 1 | Yes (maternal thrombocytopenia in pregnancy) | White | 13 | Short-lived response to steroids, partial response to eltrombopag and romiplostim | Use of HLA-matched platelet transfusions | 24 |
| TUBB1 p.Asn347Lys Dominant missense variant | 62 | Yes (daughter has thrombocytopenia) | White | 62 | Not required | Give platelets for procedures | 7 |
| UNC13D p.Val210Tr[fs]Ter39 p.Leu409Pro Recessive variants: 1 frameshift, 1 missense | 19 | No | White | 3 | Complete response to steroids and Mycophenolate Mofetil | Pathogenic variants only confirmed after patient developed symptoms of HLH aged 26 y (sequencing was re-examined). Diagnosis led to allogeneic stem cell transplant curative treatment. | 25 |
| Gene and mode of inheritance . | Age at diagnosis of ITP, y . | Family history of thrombocytopenia . | Ethnicity . | Platelet count nadir, ×109/L . | Treatment for ITP . | Effect on management . | Reference . |
|---|---|---|---|---|---|---|---|
| ETV6 p.Arg369Trp Dominant missense variant | 47 | No | White | 34 | Limited/no response to splenectomy, azathioprine, steroids Complete response to romiplostim | Patient had gone through many ineffective immunosuppressive agents before romiplostim was licensed. | 22 |
| ANKRD26 c.-116C>G Dominant 5′UTR variant | 30 | No | Asian | 45 | Not required | Give platelets for procedures, monitor for malignancy | 23 |
| GP1BB p.Leu16Pro Dominant missense variant | 1 | Yes (maternal thrombocytopenia in pregnancy) | White | 13 | Short-lived response to steroids, partial response to eltrombopag and romiplostim | Use of HLA-matched platelet transfusions | 24 |
| TUBB1 p.Asn347Lys Dominant missense variant | 62 | Yes (daughter has thrombocytopenia) | White | 62 | Not required | Give platelets for procedures | 7 |
| UNC13D p.Val210Tr[fs]Ter39 p.Leu409Pro Recessive variants: 1 frameshift, 1 missense | 19 | No | White | 3 | Complete response to steroids and Mycophenolate Mofetil | Pathogenic variants only confirmed after patient developed symptoms of HLH aged 26 y (sequencing was re-examined). Diagnosis led to allogeneic stem cell transplant curative treatment. | 25 |