CEBPEbase: Neutrophil-specific granule deficiency

Version 1.0 last updated 14 June, 2007 contains 3 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the CEBPEbase :

Specific granule deficiency is a rare congenital disorder. The CEBPE gene encodes a transcription factor, which is expressed primarily during granulocytic differentiation. Individuals with specific granule deficiency express normal levels of lactoferrin and transcobalamin in their saliva but not in either their plasma or neutrophils. Specific granule deficiency involves morphological and functional abnormalities in neutrophils and eosinophils and is characterised by lack of specific or secondary granules in developing mature neutrophils.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: CEBPEbase