Specific granule deficiency

Common Name(s)

Specific granule deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Specific granule deficiency" 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 "Specific granule deficiency" returned 11 free, full-text research articles on human participants. First 3 results:

A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency.
 

Author(s): Taizo Wada, Tadayuki Akagi, Masahiro Muraoka, Tomoko Toma, Kenzo Kaji, Kazunaga Agematsu, H Phillip Koeffler, Takashi Yokota, Akihiro Yachie

Journal: J. Immunol.. 2015 Jul;195(1):80-6.

 

Neutrophil-specific granule deficiency (SGD) is a rare autosomal recessive primary immunodeficiency characterized by neutrophil dysfunction, bilobed neutrophil nuclei and lack of neutrophil-specific granules. Defects in a myeloid-specific transcription factor, CCAAT/enhancer binding ...

Last Updated: 20 Jun 2015

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Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.
 

Author(s): Arati Khanna-Gupta, Hong Sun, Theresa Zibello, Han Myung Lee, Richard Dahl, Laurence A Boxer, Nancy Berliner

Journal: Blood. 2007 May;109(10):4181-90.

 

Neutrophil-specific granule deficiency (SGD) is a rare congenital disorder marked by recurrent bacterial infections. Neutrophils from SGD patients lack secondary and tertiary granules and their content proteins and lack normal neutrophil functions. Gene-inactivating mutations in the ...

Last Updated: 7 May 2007

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Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation.
 

Author(s): R F Wynn, M Sood, K Theilgaard-Mönch, C J Jones, A F Gombart, M Gharib, H P Koeffler, N Borregaard, P D Arkwright

Journal: Gut. 2006 Feb;55(2):292-3.

 

Last Updated: 12 Jan 2006

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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 "Specific granule deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.