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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Detalhes bibliográficos
Publicado no:J Allergy Clin Immunol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Mosby 2015
Assuntos:
Immune Deficiencies, Infection, and Systemic Immune Disorders
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4418747/
https://ncbi.nlm.nih.gov/pubmed/25312756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2014.08.039
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