Albinism immunodeficiency

Common Name(s)

Albinism immunodeficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Albinism immunodeficiency" 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 "Albinism immunodeficiency" returned 2 free, full-text research articles on human participants. First 3 results:

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
 

Author(s): Petra Netter, Sanny K Chan, Pinaki P Banerjee, Linda Monaco-Shawver, Lenora M Noroski, Imelda C Hanson, Lisa R Forbes, Emily M Mace, Javier Chinen, H Bobby Gaspar, Patrick Sleiman, Hakon Hakonarson, Christoph Klein, Mohammad S Ehlayel, Jordan S Orange

Journal: J. Allergy Clin. Immunol.. 2016 08;138(2):599-601.e3.

 

Last Updated: 31 Dec 1969

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Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.
 

Author(s): Chitra Dinakar, S Lewin, Karuna R Kumar, Sujatha R Harshad

Journal: Indian Pediatr. 2003 Oct;40(10):1005-8.

 

A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The ...

Last Updated: 31 Dec 1969

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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 "Albinism immunodeficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
 

Author(s): Laura Dotta, Silvia Parolini, Alberto Prandini, Giovanna Tabellini, Maddalena Antolini, Stephen F Kingsmore, Raffaele Badolato

Journal:

 

Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Chediak-Higashi Syndrome
 

Status: Recruiting

Condition Summary: Chediak Higashi Syndrome

 

Last Updated: 18 Sep 2018

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