X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder that severely impacts human health. With our profound expertise in XLA diagnostic research, we are well-equipped to deliver tailor-made solutions and comprehensive support to facilitate your journey from XLA diagnostic research to commercialization.
Overview of X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a rare genetic disorder characterized by a deficiency in immunoglobulins, leading to an impaired immune response. This condition primarily affects males and is caused by mutations in the Bruton's tyrosine kinase (BTK) gene located on the X chromosome. Mutations in the BTK gene result in the inability of B cells to mature into antibody-producing plasma cells, leading to a lack of immunoglobulins in the bloodstream. The prevalence of XLA is relatively low, affecting approximately 1 in every 190,000 to 200,000 male infants.
Fig. 1 T cell abnormalities reported in individuals with X-linked agammaglobulinemia. (Chawla S, et al., 2023)
Diagnostic Biomarkers for X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder characterized by a lack of mature B cells and low levels of immunoglobulins, leading to recurrent infections. Diagnostic biomarkers are crucial in identifying individuals with XLA.
Immunoglobulin
Individuals with XLA typically exhibit significantly reduced levels of immunoglobulins, particularly IgG, IgA, and IgM, in their serum. Low levels of these antibodies are a hallmark of the condition and indicate an impaired humoral immune response.
B Cells
XLA individuals have decreased numbers of mature B lymphocytes in their peripheral blood. Flow cytometry analysis can be used to quantify circulating B cells, with a notable reduction observed in individuals with XLA due to the block in B cell maturation caused by BTK gene mutations.
IVD Development for X-Linked Agammaglobulinemia
In vitro diagnostic (IVD) development for X-linked agammaglobulinemia (XLA) is vital for the prompt and precise identification of this rare genetic condition marked by immunodeficiency. The development of convenient and user-friendly IVD tools is of great significance to promote the early diagnosis of XLA. The following are the key strategies of XLA diagnostic development.
Genetic Testing
XLA is primarily caused by mutations in the BTK gene. Diagnostic development involves the design of molecular assays to analyze mutations in the BTK gene, which are essential for confirming the diagnosis of XLA. Next-generation sequencing (NGS) and MLPA are commonly used for genetic testing in XLA.
Biomarker Analysis
Developing IVD tools to quantify immunoglobulin levels is crucial for diagnosing XLA and evaluating antibody production defects. Flow cytometry technology, which can analyze and quantify different B cell populations in peripheral blood, is also an important strategy for the XLA diagnostic development.
Our Services
At our company, we specialize in the development of IVD solutions tailored for X-linked agammaglobulinemia (XLA). Our unwavering commitment is directed towards the creation of cutting-edge gene detection kits designed to pinpoint mutations within the BTK gene. We are committed to developing advanced diagnostic tools for early detection and progression monitoring of XLA by exploring potential biomarkers. Through the innovation of complementary diagnostic devices, we aim to facilitate automated diagnosis and effective management of XLA.
IVD Product Development Services
Optional IVD Products
- BTK Gene Testing Kit
- Immunoglobulin Level Test Kit
- B Cell Quantification Assay Kit
- PCR Primers and Probes
- DNA Extraction and PCR Reagents
- And More
We offer point-of-care testing (POCT) and companion diagnostic development services to expedite the diagnosis and precise therapies of X-linked agammaglobulinemia (XLA), facilitating timely and accurate intervention. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Chawla S, Jindal A K, Arora K, et al. T cell abnormalities in X-Linked agammaglobulinaemia: an updated review[J]. Clinical Reviews in Allergy & Immunology, 2023, 65(1): 31-42.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
