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 7 free, full-text research articles on human participants. First 3 results:

Cerebellar involvement of Griscelli syndrome type 2.
 

Author(s): Sedat I┼čikay

Journal:

 

Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best ...

Last Updated: 15 Oct 2014

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[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].
 

Author(s): Selim Jennane, Maria El Kababri, Laila Hessissen, Amina Kili, Mohamed Nacer Nachef, Nezha Messaoudi, Kamal Doghmi, Mohamed Mikdame, Mohamed El Khorassani, Mohamed Khattab

Journal: Ann. Biol. Clin. (Paris). ;71(4):461-4.

 

Griscelli syndrome type 2 is a rare autosomal recessive disorder, due to a mutation in RAB27A gene. It associates partial albinism, silver hair and immune deficiency. We report the case of a 6 year-old boy who was admitted to the Emergency department with severe sepsis complicated ...

Last Updated: 2 Aug 2013

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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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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.