CORDIS Project
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This project investigates the mechanisms behind two primary immunodeficiencies, Wiskott-Aldrich syndrome and X-linked neutropenia, focusing on mutations in the WASP gene. It aims to understand how these mutations affect immune responses and lead to various clinical outcomes, using novel mouse models for research.
Two severe primary immunodeficiencies;
Wiskott-Aldrich syndrome (WAS) and X-linked neutropenia (XLN), are caused by mutations in the same gene encoding the WAS protein (WASP). WASP is a hematopoietic cell-specific cytoskeletal regulator that coordinates receptor signalling to changes in the actin cytokeleton, thereby altering migratory, adhesive, phagocytic, and signalling responses. WAS is caused by loss-of-function mutations in WASP. WAS patients and WASP-deficient mice are immuno-compromised,…
KAROLINSKA INSTITUTET
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