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Innate immunity defects in Hermansky-Pudlak type 2 syndrome.

Authors
  • Fontana, Stefania
  • Parolini, Silvia
  • Vermi, William
  • Booth, Sarah
  • Gallo, Federico
  • Donini, Marta
  • Benassi, Marzia
  • Gentili, Francesca
  • Ferrari, Daniela
  • Notarangelo, Lucia D
  • Cavadini, Patrizia
  • Marcenaro, Emanuela
  • Dusi, Stefano
  • Cassatella, Marco
  • Facchetti, Fabio
  • Griffiths, Gillian M
  • Moretta, Alessandro
  • Notarangelo, Luigi D
  • Badolato, Raffaele
Type
Published Article
Journal
Blood
Publication Date
Jun 15, 2006
Volume
107
Issue
12
Pages
4857–4864
Identifiers
PMID: 16507770
Source
Medline
License
Unknown

Abstract

Adaptor protein-3 (AP-3) is an ubiquitous cytoplasmic complex that shuttles cargo proteins from the trans-Golgi and a tubular-endosomal compartment to endosome-lysosome-related organelles. Lack of the beta3A subunit of this complex causes Hermansky-Pudlak syndrome type 2, an autosomal recessive disease characterized by partial albinism, prolonged bleeding tendency, and immunodeficiency. To investigate the pathogenesis of immunodeficiency, we studied natural killer (NK) cells and neutrophil functions in 2 previously unreported siblings affected by Hermansky-Pudlak type 2 syndrome. In both patients we observed a dramatic reduction of cytolytic activity of freshly isolated and of IL-2-activated NK cells. Levels of perforin were reduced in unstimulated NK cells, thereby accounting for the impairment of NK cytolitic activity. In addition, analysis of neutrophils in these patients demonstrated that intracellular elastase content was largely reduced while CD63 expression on plasma membrane was substantially increased. Taken together, these observations suggest that type 2 Hermansky-Pudlak syndrome is characterized by defects of innate immunity.

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