Wiskott-Aldrich syndrome (WAS)
About
WAS is caused by mutations in the WAS gene that lead to the deletion or abnormal function of WAS protein and is X-linked recessive inheritance. It is characterized by thrombocytopenia with small platelets, eczema, immunodeficiency and autoimmune tendencies. Core dilemmas: ① Platelet infusion is ineffective and prone to antibody production;② If not treated, the average survival time is about 15 years;③ Allogeneic transplantation is a radical treatment, but transplanta-related complications and long-term immune reconstruction are challenges.
Features & Symptoms
- WAS gene mutation
- Thrombocytopenia with small platelets
- eczema
- Immunodeficiency and autoimmunity
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| allogeneic hematopoietic stem cell transplantation | The success rate of sibling matched donor transplantation is>90%, and unrelated donor or cord blood transplantation is also a feasible option. | 临床应用 | $300K - $800K/次 |
| Gene therapy (OTL-103) | Autologous CD34 + cells were modified with lentiviral vectors and then reinfused, and are currently in clinical trials. | Phase I/II | $500K - $1M/次（一次性） |
| splenectomy in | It can significantly improve platelet counts, but increases the risk of infection and requires lifelong preventive antibiotics. | 临床应用 | $30K - $80K/次 |
Prognosis
The average survival time of those who did not transplant was 15 years, and the transplant success rate was>85%
Additional Notes
Notes: Transplant Assessment: The indications for hematopoietic stem cell transplantation should be evaluated as soon as possible after diagnosis, and transplantation is the only possible cure at present; splenectomy decision: Splenectomy can be considered when severe thrombocytopenia and medical treatment is ineffective, but it will increase the risk of infection; immunoglobulin replacement: Patients with hypogammaglobulinemia need regular infusions of immunoglobulin; eczema management: Local glucocorticoids and calcineurin inhibitors can control eczema symptoms; autoimmune monitoring: Patients with WAS are prone to autoimmune cytopenias and require regular monitoring of blood routine. Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Research stage: Clinical application. Prognosis: The average survival time of those who have not been transplanted is 15 years, and the transplant success rate is>85%.
Frequently Asked Questions
What is Wiskott-Aldrich syndrome (WAS)?
WAS is caused by mutations in the WAS gene that lead to the deletion or abnormal function of WAS protein and is X-linked recessive inheritance. It is characterized by thrombocytopenia with small platelets, eczema, immunodeficiency and autoimmune tendencies. Core dilemmas: ① Platelet infusion is ineffective and prone to antibody production;② If not treated, the average survival time is about 15 years;③ Allogeneic transplantation is a radical treatment, but transplanta-related complications and long-term immune reconstruction are challenges.
What are the symptoms of Wiskott-Aldrich syndrome (WAS)?
WAS gene mutation,Thrombocytopenia with small platelets,eczema,Immunodeficiency and autoimmunity
How is Wiskott-Aldrich syndrome (WAS) treated?
allogeneic hematopoietic stem cell transplantation: The success rate of sibling matched donor transplantation is>90%, and unrelated donor or cord blood transplantation is also a feasible option.; Gene therapy (OTL-103): Autologous CD34 + cells were modified with lentiviral vectors and then reinfused, and are currently in clinical trials.; splenectomy in: It can significantly improve platelet counts, but increases the risk of infection and requires lifelong preventive antibiotics.
What is the prognosis for Wiskott-Aldrich syndrome (WAS)?
The average survival time of those who did not transplant was 15 years, and the transplant success rate was>85%