Wiskott-Aldrich Syndrome (WAS)

Wiskott-Aldrich Syndrome (WAS) is an uncommon hereditary disorder on the X chromosome that affects the immune system, marked by a triad of symptoms which are eczema, recurrent infections as well as thrombocytopenia with small platelets. With Protheragen, one can achieve comprehensive preclinical drug development and therapy development services as they integrate diverse approaches for more efficient movement from innovative concepts to advanced clinical solutions.

Overview of Wiskott-Aldrich Syndrome

Mutations in the WAS gene located at Xp11.23 are responsible for Wiskott-Aldrich Syndrome (WAS), which affects 1 in 100,000 to 1 million males worldwide. The disorder presents with anemia, eczema, recurrent infections and increases vulnerability to autoimmune conditions as well as various cancers. In addition, chronic dermatitis associated with petechiae or non-melanoma skin malignancy sharply underscores the pivotal role of the immune system in regulating skin disease from inflammation to tolerogenic pathways.

Pathogenesis of Wiskott-Aldrich Syndrome

Pathogenesis of WAS involves causative mutations within the WAS gene resulting without or dysfunctional WASp protein deletion. Absence of the WASp results disrupts cellular processes including motility and phagocytosis due to lack of assembly and organization in the actin cytoskeleton because phagocytosis and cytokine secretion critical processes for immune response require tight coordination.

In WAS, the malfunctioning WASp disrupts the functions of immune cells by incapacitating their ability to respond to stimuli, properly migrate to infection sites, and perform synergistic immune reactions. T-cells have defective proliferation and cytokine production, while B cells have blunted responses in antibody production. Moreover, there is small stature platelets that are destroyed easily resulting in thrombocytopenia and bleeding. The eczema is often severe and a hallmark of the immune dysregulation characteristic of WAS.

Fig.1 The role of WASp in signal transduction in T cells. (Ngoenkam et al., 2021)

Therapeutics Development for Wiskott-Aldrich Syndrome

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Protheragen furthers Wiskott-Aldrich Syndrome by providing advanced integrated preclinical services. This supports the innovation of therapeutic development, diagnostics development, and disease models to expedite translation. With proprietary platforms, we ensure a seamless transition from discovery to IND-enabling studies.

Therapeutic Development

• Small Molecule Drug
• Cell Therapy
• Gene Therapy
• Therapeutic Antibody
• Therapeutic Peptide
• Therapeutic Protein

Diagnostics Development

• Biomarker Development
  Single-Cell Immune Profiling
  Proteomic Analysis of WASp Signaling Pathways
• Diagnostic Kit Development
  Multiplex NGS Panels for WAS Gene Variants
  Flow Cytometry-Based Platelet Screening Kits

Disease Model Development

• Patient-Derived Immune Cells
• WASp-Deficient Hematopoietic Stem Cells
• WAS^KO Knockout Mice
• WAS^R86C Point Mutation Zebrafish
• Humanized Immune System (HIS) Mice

Drug Safety Evaluation & DMPK Services for Wiskott-Aldrich Syndrome