Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP.

IMMUNOLOGY AND CELL BIOLOGY(2019)

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摘要
Inherited defects in genes encoding for proteins that are involved in the assembly and dynamics of the actin skeleton have increasingly been identified in patients presenting with primary immunodeficiencies. In this review, we summarize a subset of the recently described conditions, emphasizing the clinical features as well as the immunophenotype and pathophysiology.
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关键词
Coronin 1A,cytoskeleton,DOCK2-DOCK8,primary immunodeficiency,RAC2
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