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Whim Syndrome (WHIM)

Whim syndrome (WHIM) is a rare congenital immunodeficiency disorder. Our company is committed to developing cutting-edge diagnostics and therapeutics for the management of WHIM. As your reliable partner in WHIM research, we offer streamlined and comprehensive solutions to meet all your scientific research requirements.

Overview of Whim Syndrome

Whim syndrome (WHIM) is a rare primary immunodeficiency disorder that affects the normal functioning of the immune system. It is characterized by a combination of manifestations including recurrent bacterial infections, low levels of neutrophils, and the presence of warts. Whim syndrome is exceptionally uncommon, with an estimated occurrence rate of approximately 0.2 cases per million live births.

What is whim syndrome (WHIM)Fig. 1 The clinical definition of whim syndrome (WHIM). (McDermott, David H., et al., 2015)

Pathogenesis of Whim Syndrome

The majority of whim syndrome cases are caused by mutations in the CXCR4 gene, inherited in an autosomal dominant pattern. The CXCR4 gene provides instructions for producing a protein receptor that plays a crucial role in the immune system. Mutations in this gene lead to impaired immune cell migration and retention, contributing to the development of whim syndrome.

Whim syndrome (WHIM) and CXCR4 gene. Fig. 2 The pathogenesis of whim syndrome (WHIM). (McDermott, David H., and Philip M., 2019)

Types of Whim Syndrome Therapy

Gene Therapy

Gene therapy is expected to correct the genetic mutations underlying whim syndrome through gene editing technologies such as CRISPR-Cas9. By precisely targeting and modifying the mutated CXCR4 gene, it may be possible to restore normal immune cell function in individuals with whim syndrome.

Immunomodulatory Therapy

Immunomodulatory therapies aim to modulate the immune system to enhance the immune response. Administration of specific cytokines, such as interleukin-8 (IL-8), can promote neutrophil migration and activation to improve immune function and reduce the risk of infection in WHIM individuals.

Our Services

As a frontrunner in the field of biological research and CRO services, our company is dedicated to offering holistic solutions for the diagnostics development and therapy research of whim syndrome. Through collaborations with industry experts, we have established all-encompassing platforms for rare diseases to facilitate whim syndrome therapy development.

Platforms of Whim Syndrome Therapy Development

Recognizing the significance of dependable animal models in whim syndrome disease research, our company is committed to offering animal model development services that facilitate preclinical research and aid in drug discovery endeavors.

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
  • CXCR4 Knockout Model
  • CXCR4 Knockdown Model
  • CXCR4 Transgenic Model
Optional Species Mice, Zebrafish, Non-Human Primates (Rhesus Macaques), Others

With complete animal species resources, we can meet your diversified preclinical research including 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.


  • 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.

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