neutrophil immunodeficiency syndrome

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

neutrophil immunodeficiency syndrome


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.  


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