neutrophil immunodeficiency syndrome

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neutrophil immunodeficiency syndrome2016-12-25T08:25:57+00:00

neutrophil immunodeficiency syndrome

IMMUNOLOGY

Definition An immunodeficiency syndrome (OMIM:608203) characterised by defective neutrophils, leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing.

Molecular pathology Defects of RAC2, which encodes a GTPase that regulates various cellular responses–e.g., secretion, phagocytosis of apoptotic cells, epithelial cell polarisation, and production of reactive oxygen species by NADPH oxidase, cause neutrophil immunodeficiency syndrome.  

References http://www.uniprot.org/uniprot/P15153
http://www.omim.org/entry/608203 

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