Article
Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.
PloS one - 1 Jan 2013
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
Abstract excerpt
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-cutaneous albinism, bleeding disorders and immunodeficiency. We have studied peripheral blood and lymph node biopsies from...
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