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Innate immunity defects in Hermansky-Pudlak type 2 syndrome.

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.

journal_name

Blood

journal_title

Blood

authors

Fontana S,Parolini S,Vermi W,Booth S,Gallo F,Donini M,Benassi M,Gentili F,Ferrari D,Notarangelo LD,Cavadini P,Marcenaro E,Dusi S,Cassatella M,Facchetti F,Griffiths GM,Moretta A,Notarangelo LD,Badolato R

doi

10.1182/blood-2005-11-4398

subject

Has Abstract

pub_date

2006-06-15 00:00:00

pages

4857-64

issue

12

eissn

0006-4971

issn

1528-0020

pii

2005-11-4398

journal_volume

107

pub_type

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