Griscelli Syndrome Type 2

Common Name(s)

Griscelli Syndrome Type 2

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Griscelli Syndrome Type 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 "Griscelli Syndrome Type 2" returned 5 free, full-text research articles on human participants. First 3 results:

A novel RAB27A mutation in a patient with Griscelli syndrome type 2.
 

Author(s): B S Shamsian, K Norbakhsh, N Rezaei, A Safari, A Gharib, Z Pourpak, S Alavi, N Parvaneh, M T Arzanian

Journal: J Investig Allergol Clin Immunol. 2010 ;20(7):612-5.

 

Griscelli syndrome type 2 is a rare autosomal recessive primary immunodeficiency disease caused by a mutation in the RAB27A gene and characterized by oculocutaneous hypopigmentation and variable cellular immunodeficiency. We report the case of a 6-month-old infant with silvery hair, ...

Last Updated: 14 Feb 2011

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Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
 

Author(s): Lisa M Vincent, Fred Gilbert, Jennifer I DiPace, Carla Ciccone, Thomas C Markello, Andrew Jeong, Heidi Dorward, Wendy Westbroek, William A Gahl, James B Bussel, Marjan Huizing

Journal: Mol. Genet. Metab.. 2010 Sep;101(1):62-5.

 

Griscelli syndrome (GS), a rare autosomal recessive disorder characterized by partial albinism and immunological impairment and/or severe neurological impairment, results from mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes. We identified a Hispanic patient born of ...

Last Updated: 16 Aug 2010

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Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients.
 

Author(s): Jana Pachlopnik Schmid, Despina Moshous, Nathalie Boddaert, Bénédicte Neven, Liliane Dal Cortivo, Marc Tardieu, Marina Cavazzana-Calvo, Stéphane Blanche, Geneviève de Saint Basile, Alain Fischer

Journal: Blood. 2009 Jul;114(1):211-8.

 

Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for Griscelli syndrome type 2, an inherited immune disorder causing fatal hemophagocytic lymphohistiocytosis (HLH). Optimal therapeutic modalities are not yet well known. We retrospectively analyzed ...

Last Updated: 3 Jul 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Griscelli Syndrome Type 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.