Hermansky Pudlak syndrome 2

Common Name(s)

Hermansky Pudlak syndrome 2

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and oculocutaneous albinism. HPS2 differs from the other forms of HPS in that it includes immunodeficiency, and patients with HPS2 have an increased susceptibility to infections due to congenital neutropenia ({6:Jung et al., 2006}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hermansky Pudlak syndrome 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hermansky Pudlak syndrome 2" returned 11 free, full-text research articles on human participants. First 3 results:

Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.
 

Author(s): Luisa Lorenzi, Giovanna Tabellini, William Vermi, Daniele Moratto, Fulvio Porta, Lucia D Notarangelo, Ornella Patrizi, Silvano Sozzani, Genevieve de Saint Basile, Sylvain Latour, David Pace, Silvia Lonardi, Fabio Facchetti, Raffaele Badolato, Silvia Parolini

Journal:

 

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 ...

Last Updated: 4 Dec 2013

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Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.
 

Author(s): Matthew L Jones, Sherina L Murden, Claire Brooks, Viv Maloney, Richard A Manning, Kimberly C Gilmour, Vandana Bharadwaj, Josu de la Fuente, Subarna Chakravorty, Andrew D Mumford

Journal:

 

Hermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1, which encodes the β3A subunit of the adaptor-related protein complex 3 (AP3). Phenotypic characteristics include reduced pigmentation, ...

Last Updated: 27 May 2013

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The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
 

Author(s): Birthe Jessen, Sebastian F N Bode, Sandra Ammann, Subarna Chakravorty, Graham Davies, Jana Diestelhorst, Melissa Frei-Jones, William A Gahl, Bernadette R Gochuico, Matthias Griese, Gillian Griffiths, Gritta Janka, Christoph Klein, Tamara Kögl, Karin Kurnik, Kai Lehmberg, Andrea Maul-Pavicic, Andrew D Mumford, David Pace, Nima Parvaneh, Nima Rezaei, Geneviève de Saint Basile, Annette Schmitt-Graeff, Klaus Schwarz, Gulsun T Karasu, Barbara Zieger, Udo Zur Stadt, Peter Aichele, Stephan Ehl

Journal: Blood. 2013 Apr;121(15):2943-51.

 

Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient ...

Last Updated: 12 Apr 2013

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Reviews from the PubMed Database

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The terms "Hermansky Pudlak syndrome 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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