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Review
. 2019 Apr;97(4):389-402.
doi: 10.1111/imcb.12243. Epub 2019 Mar 8.

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

Stuart G Tangye  1   2 , Giorgia Bucciol  3   4 , Jose Casas-Martin  3 , Bethany Pillay  1   2 , Cindy S Ma  1   2 , Leen Moens  3 , Isabelle Meyts  3   4
Affiliations
Review

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

Stuart G Tangye et al. Immunol Cell Biol. 2019 Apr.

Abstract

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.

Keywords: Coronin 1A; DOCK2-DOCK8; RAC2; cytoskeleton; primary immunodeficiency.

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