Occurrence of Nodular Lymphocyte-Predominant Hodgkin Lymphoma in Hermansky-Pudlak Type 2 Syndrome Is Associated to Natural Killer and Natural Killer T Cell Defects

Hermansky Pudlak type 2 syndrome (HPS2) is a rare autosomal recessive primary immune deficiency caused by mutations on β3A gene (AP3B1 gene). The defect results in the impairment of the adaptor protein 3 (AP-3) complex, responsible for protein sorting to secretory lysosomes leading to oculo-cutaneou...

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Detalhes bibliográficos
Main Authors: Lorenzi, Luisa, Tabellini, Giovanna, Vermi, William, Moratto, Daniele, Porta, Fulvio, Notarangelo, Lucia D., Patrizi, Ornella, Sozzani, Silvano, de Saint Basile, Genevieve, Latour, Sylvain, Pace, David, Lonardi, Silvia, Facchetti, Fabio, Badolato, Raffaele, Parolini, Silvia
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3841159/
https://ncbi.nlm.nih.gov/pubmed/24302998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0080131
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