Severe Combined Immune Deficiency Research Services
Research in Severe Combined Immunodeficiency (SCID) is rapidly evolving, and in particular, the combined use of gene therapy and hematopoietic stem cell transplantation offers new hope for patients. Protheragen is a rare disease research service provider dedicated to helping investigators overcome the limitations of existing therapies and develop more effective treatment options.
What Is Severe Combined Immunodeficiency?
SCID is a severe primary immunodeficiency disease characterized by a combined loss of T-cell and B-cell function, resulting in a high degree of susceptibility to bacteria, viruses, fungi, and opportunistic pathogens. The disease usually develops in early childhood, and if not diagnosed and treated in a timely manner, patients may die within the first year of life.
Causes and Genetic Mechanisms of SCID
SCID is caused by mutations in a variety of genes involved in the development and function of the immune system, including T-cell receptors (TCR), IL-2 receptors, IL-7 receptors, RAG genes (RAG1 and RAG2), and DNA repair genes (such as ADAR). Abnormalities in these genes can lead to impaired T and B cell development, which can trigger a total loss of immune system function. In addition, some cases of SCID may be associated with chromosomal microdeletions or chromosomal abnormalities.
Treatment Strategies for SCID
- Hematopoietic Stem Cell Transplantation (HSCT)
- Gene therapy
- Supportive therapy including antibiotic therapy, immunoglobulin replacement therapy, and antiviral drugs.
- Thymus transplantation
Figure 1. Gene therapy corrects Primary Immune Deficiencies (PIDs) by restoring the affected blood cells. (Kohn LA, Kohn DB., 2021)Disclaimer: Protheragen specializes in providing preclinical research services. The above is for informational purposes only. For guidance on treatment options, please visit the regular hospital.
Our Services
Diagnostic Method Development for SCID
Laboratory testing is an important complementary tool in the diagnosis of SCID, and we support the development of the following methods:
- Lymphocyte subpopulation analysis
- Immunoglobulin level measurement
- T-cell proliferation assay
- Gene mutation testing
If you are currently facing technical complexity, high costs and lack of standardization in the development of your diagnostic methods, we can use our expertise to develop more efficient and cost-effective screening methods for you.
Model Development Services for SCID
In Vitro Models
- Human induced pluripotent stem cells (iPSCs)
In Vivo Models
- NOD SCID mice
- Human/SCID mouse chimeric model
- SCID pigs
Whether you want to study the pathogenesis of SCID, immune reconstitution, develop new therapeutic strategies or evaluate new treatments, we can develop customized in vitro and animal models for you.
Gene Therapy Development Services for SCID
Types of gene therapy cargo we support:
- DNA Therapies
- RNA Therapies
- Antisense Oligonucleotides
- Gene Editing System
Types of gene therapy vector we support:
- Viral Vectors
ADV, RV, AAV, LV
- Non-Viral Vectors
Plasmids, Liposomes, Nanoparticles
SCID's research pain points cover a wide range of areas, including early diagnosis, therapeutic treatments, disease mechanisms, and new therapy development. We are committed to helping researchers improve screening efficiency, optimize treatments, and reduce therapy development costs through our expertise. If you are interested in our services, please feel free to contact us.
Reference
- Kohn LA, Kohn DB. Gene Therapies for Primary Immune Deficiencies. Front Immunol. 2021; 12:648951.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.