Whim Syndrome (WHIM)
Whim syndrome (WHIM), is an exceptionally rare form of congenital immunodeficiency disease. Likewise, our company focuses on diagnostics and therapeutics WHIM management and is keen on developing strategic and efficient solutions. Furthermore, as your trusted partner, we conduct comprehensive WHIM research and offer a wide variety of prepackaged solutions for all your scientific needs.
Overview of Whim Syndrome
WHIM syndrome is a rare form of primary immunodeficiency disorder where an individual suffers from aberrant features in the normal working of his/her immune system. WHIM syndrome is a type of primary immunodeficiency syndrome characterized by a distinctive combination of features - recurrent warts, bacterial infections, and neutropenia. Whim syndrome is the most unusual form of syndromes, with cases identified being around 0.2 per million live births.
Fig. 1 The clinical definition of whim syndrome (WHIM). (McDermott, David H., et al., 2015)Pathogenesis of Whim Syndrome
Most of the whim syndrome are caused by mutation of the CXCR4 gene and are transmitted in an autosomal dominate fashion. The CXCR4 gene is essential for the synthesis of a protein receptor that mediates critical functions for the immune system. Genetic mutations produce retention and migration deficiencies of immune cells which lead to the syndrome known as whim.
Fig. 2 The pathogenesis of whim syndrome (WHIM). (McDermott, David H., and Philip M., 2019)Types of Whim Syndrome Therapy
Gene Therapy
Genomic therapy aims at rectifying the mutations characteristic of whim syndromes by deploying ingenious techniques like editing the CRISPR-Cas9. It is possible to modify the CXCR4 gene at the mutants' sites and improve the immune function of Whim patients.
Immunomodulatory Therapy
The main goal of immunomodulatory therapies is to improve the immune system in order to boost its activity even more. Certain cytokines, particularly interleukin-8 (IL-8), can be administered to WHIM individuals to increase the activity and movement of neutrophils and, consequently, their overall immune functions.
Our Services
Our Company is a leader in the biological and CRO research services specializing in developing comprehensive solutions for therapy research and diagnostics development for whim syndrome. We have created all-encompassing platforms for rare diseases with industry experts to expedite the development of whim syndrome therapies.
Platforms of Whim Syndrome Therapy Development
Our company understands the importance of reliable animal models in whim syndrome disease research. Therefore, we specialize in animal model development services that facilitate preclinical research and aid drug discovery processes.
Animal Models of Whim Syndrome
| Xenograft Models | |||
| Xenograft models involve the transplantation of cells derived from whim syndrome patients, such as neutrophils or bone marrow cells, into immunodeficient animals. This approach allows researchers to examine the behavior and function of whim syndrome cells in a controlled environment. Commonly used cell lines include HL-60, NB4, PLB-985, KG-1a, primary human neutrophils. | |||
| Genetically Engineered Models | |||
| Our company specializes in using gene manipulation technologies, such as knockout, knockdown, or transgenic technology, to cause mutations in the CXCR4 gene of animals to replicate the relevant characteristics of whim syndrome. | |||
| Optional Models |
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| Optional Species | Mice, Zebrafish, Non-Human Primates (Rhesus Macaques), Others | ||
We possess complete animal species resources that allow us to deliver diversified preclinical research services like drug safety evaluation and pharmacokinetic analysis. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.
References
- McDermott, David H., et al. "Chromothriptic cure of WHIM syndrome." Cell 160.4 (2015): 686-699.
- McDermott, David H., and Philip M. Murphy. "WHIM syndrome: Immunopathogenesis, treatment and cure strategies." Immunological Reviews 287.1 (2019): 91-102.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.