Article
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
Haematologica - 1 Jul 2008
Santoro Alessandra, Cannella Sonia, Trizzino Antonino, Bruno Giuseppa, De Fusco Carmen, Notarangelo Luigi D, Pende Daniela, Griffiths Gillian M, Aricò Maurizio
Abstract excerpt
Mutations of UNC13D have been described in patients affected by familial hemophagocytic lymphohistiocytosis (FHL3). The Munc13-4 protein contributes to the priming of the secretory granules. Mutation in this gene results in defective cellular cytotoxicity and the familial hemophagocytic lymphohistiocytosis clinical picture. Among reported mutations, few are predicted to impair splicing. Yet, functional impact of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.