Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency

Autosomal recessive mutations in UNC13D, the gene that encodes Munc13-4, are associated with familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Munc13-4 expression is obligatory for exocytosis of lytic granules, facilitating cytotoxicity by T cells and natural killer (NK) cells. The mechanis...

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Detalles Bibliográficos
Autores principales: Cichocki, Frank, Schlums, Heinrich, Li, Hongchuan, Stache, Vanessa, Holmes, Timothy, Lenvik, Todd R., Chiang, Samuel C.C., Miller, Jeffrey S., Meeths, Marie, Anderson, Stephen K., Bryceson, Yenan T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042637/
https://www.ncbi.nlm.nih.gov/pubmed/24842371
http://dx.doi.org/10.1084/jem.20131131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042637/
https://www.ncbi.nlm.nih.gov/pubmed/24842371
http://dx.doi.org/10.1084/jem.20131131

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