Severe combined immunodeficiency (SCID)
About
SCID is a group of inherited immunodeficiency diseases with severe T cell deficiency, including X-linked SCID (IL2RG mutation), ADA deficiency, etc. The child suffered from severe infections repeatedly after birth and was unable to produce an effective immune response. Core dilemmas: ① If left untreated, children usually die of infection within 1-2 years of age;② Allogeneic transplantation is a radical cure, but needs to be performed before infection;③ Although gene therapy (Strimvelis) is approved, its accessibility is limited.
Features & Symptoms
- Severe T cell deficiency
- Repeated severe infections after birth
- Inability to generate an effective immune response
- Bubble Boy Disease
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| allogeneic hematopoietic stem cell transplantation | The success rate of transplantation with identical siblings was>95%, and the success rate of transplantation with unrelated donors or haploidentical recipients was slightly lower. It should be done as soon as possible before infection. | 临床应用 | $300K - $800K/次 |
| Strimvelis (ADA-SCID gene therapy) | Autologous CD34 + cells were modified with gamma-retroviral vectors and then reinfused, which was approved by EMA in 2016. | FDA/EMA批准 | $600K - $1M/次（一次性） |
| Enzyme replacement therapy (PEG-ADA) | PEGylated adenosine deaminase replacement therapy, used for bridging treatment of ADA-SCID or in patients who are not suitable for transplantation. | FDA批准 | $300K - $600K/年 |
Prognosis
Untreated patients died within 1-2 years of age, and the transplant success rate was>90%
Additional Notes
Notes: Neonatal Screening: It is recommended that all newborns undergo TREC screening, and early detection can significantly improve prognosis; transplant timing: Hematopoietic stem cell transplantation should be performed as soon as possible after diagnosis. Delaying transplantation will increase the risk of infection and transplant failure rate; Pre-transplant infection control: Strict isolation must be required before transplantation to prevent infection, and antibiotics and antifungal drugs should be used to prevent infection if necessary; Live vaccine contraindications: SCID patients are strictly prohibited from receiving all live vaccines (Including BCG and rotavirus vaccines); Gene therapy: Gene therapy for ADA-SCID and X-linked SCID has achieved good results and can be used as an alternative to transplantation.; 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.; Study phase: FDA/EMA approval. Prognosis: Untreated patients died within 1-2 years of age, and the transplant success rate was>90%.
Frequently Asked Questions
What is Severe combined immunodeficiency (SCID)?
SCID is a group of inherited immunodeficiency diseases with severe T cell deficiency, including X-linked SCID (IL2RG mutation), ADA deficiency, etc. The child suffered from severe infections repeatedly after birth and was unable to produce an effective immune response. Core dilemmas: ① If left untreated, children usually die of infection within 1-2 years of age;② Allogeneic transplantation is a radical cure, but needs to be performed before infection;③ Although gene therapy (Strimvelis) is approved, its accessibility is limited.
What are the symptoms of Severe combined immunodeficiency (SCID)?
Severe T cell deficiency,Repeated severe infections after birth,Inability to generate an effective immune response,Bubble Boy Disease
How is Severe combined immunodeficiency (SCID) treated?
allogeneic hematopoietic stem cell transplantation: The success rate of transplantation with identical siblings was>95%, and the success rate of transplantation with unrelated donors or haploidentical recipients was slightly lower. It should be done as soon as possible before infection.; Strimvelis (ADA-SCID gene therapy): Autologous CD34 + cells were modified with gamma-retroviral vectors and then reinfused, which was approved by EMA in 2016.; Enzyme replacement therapy (PEG-ADA): PEGylated adenosine deaminase replacement therapy, used for bridging treatment of ADA-SCID or in patients who are not suitable for transplantation.
What is the prognosis for Severe combined immunodeficiency (SCID)?
Untreated patients died within 1-2 years of age, and the transplant success rate was>90%