Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding

BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and hyperinflammation, and the only cure known to date is hematopoietic stem cell transplantation. Mutations in RAB27A, LYST, and AP3B1 give rise to FHL a...

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Detalles Bibliográficos
Autores principales: Cetica, Valentina, Hackmann, Yvonne, Grieve, Samantha, Sieni, Elena, Ciambotti, Benedetta, Coniglio, Maria Luisa, Pende, Daniela, Gilmour, Kimberly, Romagnoli, Paolo, Griffiths, Gillian M., Aricò, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2015
Materias:
Immune Deficiencies, Infection, and Systemic Immune Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418747/
https://www.ncbi.nlm.nih.gov/pubmed/25312756
http://dx.doi.org/10.1016/j.jaci.2014.08.039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418747/
https://www.ncbi.nlm.nih.gov/pubmed/25312756
http://dx.doi.org/10.1016/j.jaci.2014.08.039

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