neutropenia—severe congenital—X-linked

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neutropenia—severe congenital—X-linked2016-11-27T13:53:09+00:00

neutropenia—severe congenital—X-linked

HAEMATOLOGY

Definition A haematopoietic disorder (OMIM:300299) characterised by maturational arrest of granulopoiesis at the level of promyelocytes with peripheral absolute neutrophil counts below 0.5 x 109/l and early onset of severe bacterial infections. 

Molecular pathology Defects of WAS, which encodes an effector protein for Rho-type GTPases that mediates actin filament reorganisation and formation of actin pedestals after infection by pathogenic bacteria, cause neutropenia—severe congenital—X-linked.  

References http://www.uniprot.org/uniprot/P42768

http://www.omim.org/entry/300299

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