Bare Lymphocyte Syndrome Research Services
Protheragen's goal is to be your full-service partner in rare disease research, helping you to further understand the genetic mechanisms of bare lymphocyte syndrome (BLS), optimize diagnostic methods, and develop more effective therapeutic strategies through our expertise and technological capabilities.
What Is Bare Lymphocyte Syndrome?
Bare lymphocyte syndrome is a rare inherited immunodeficiency disorder characterized by a lack of expression of major histocompatibility complex (MHC) class I or II molecules on the surface of T and B cells. This defect results in a severely compromised immune system that is susceptible to bacterial, viral, and fungal infections and can be life-threatening due to recurrent infections during childhood.

Etiology and Genetic Mechanisms of Bare Lymphocyte Syndrome
BLS is mainly caused by mutations in transcriptionally regulated genes of MHC class II molecules (e.g., CIITA, RFX5, RFXAP, RFXANK). The mode of inheritance is mostly autosomal recessive.
Advances in the Treatment of Bare Lymphocyte Syndrome
- Hematopoietic stem cell transplantation (HSCT)
- Gene therapy (under study)
- Antibiotics, immunoglobulin replacement and antifungal medications
Disclaimer: Protheragen offers scientific research support before clinical work begins. The above is for informational purposes only. Please visit a regular hospital for information on treatment.
Our Services
Diagnostic Method Development Services for Bare Lymphocyte Syndrome
Types of diagnostic methods we support:
- Gene sequencing to analyze specific gene mutations
- HLA antigen detection
- Assays for serum Ig levels, CD3+ T cell subset distribution, natural killer cell activity, and other indicators
Types of diagnostic kit development we support:
- Biochemical diagnostic kits
- Immune diagnostic kits
- Molecular diagnostic kits
Biomarker Development Services for Bare Lymphocyte Syndrome
Types of biomarker discovery we support:
- Gene mutation detection
- Immune system related biomarkers
- Protein and metabolite markers
- Exosomal and miRNA markers
The methods we use to discover biomarkers:
- Genomics analysis
- Transcriptomics analysis
- Proteomics analysis
- Metabolomics analysis
Model Development Services for Bare Lymphocyte Syndrome
In Vitro Models
- Human induced pluripotent stem cells (iPSCs)
- Primary cell
- Cell line
- 3D models
In Vivo Models
- MHC class II knockout mice
- MHC class I knockout mice
- Other knockout mice
- Humanized mouse models
- Non-human primate models
Gene Therapy Development Services for Bare Lymphocyte Syndrome
Types of gene therapy development we support:
- DNA therapy development
- RNA-based therapy development
- TALEN-based therapy development
- Meganuclease-based therapeutics development
Our gene therapy delivery services include:
- Gene therapy vector construction
- Gene therapy vector quantification
- Gene therapy vector evaluation
Although the development of genetic testing technology has provided important support for the diagnosis of BLS in recent years, further research on the pathogenesis, immunoregulatory mechanisms and potential therapeutic targets of BLS is still needed. Protheragen, with its team of geneticists and genetic engineering researchers, has a solid foundation in gene therapy development and is committed to providing professional services in the development of gene therapies for BLS. We are committed to providing you with professional services in gene therapy development for BLS.
Reference
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Waldburger JM, Masternak K, Muhlethaler-Mottet A, et al. Lessons from the bare lymphocyte syndrome: molecular mechanisms regulating MHC class II expression. Immunol Rev. 2000;178:148-165.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.