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

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. This article is protected by copyright. All rights reserved.

Type Journal
ISBN 1440-1711 (Electronic) 0818-9641 (Linking)
Authors Tangye, S. G.; Bucciol, G.; de Las Casas, J. M.; Pillay, B.; Ma, C. S.; Moens, L.; Meyts, I.
Responsible Garvan Author Prof Stuart Tangye
Publisher Name IMMUNOLOGY AND CELL BIOLOGY
Published Date 2019-04-30
Published Volume 97
Published Issue 4
Published Pages 389-402
Status Published in-print
DOI 10.1111/imcb.12243
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/30779216