CORDIS Project
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This project investigates the molecular mechanisms behind certain pediatric immunodeficiency syndromes, focusing on the role of specific proteins in immune cell function. It aims to enhance understanding of granule release in lymphocytes, potentially improving diagnosis and treatment of these conditions.
The pediatric immunodeficiency syndromes familial haemophagocytic lymphohistiocytosis types 3 (FHL3) and 4 (FHL4), and Griscelli syndrome type 2 (GS2) are associated with loss-of-function of Munc13-4, syntaxin 11 (Stx11) and Rab27a, respectively.
These proteins are members of families of membrane fusion-regulating proteins, but the precise molecular role of these proteins in granule release is incompletely understood.
All of these mutations result in a loss of cytotoxic function by NK cells and…
KAROLINSKA INSTITUTET
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