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

Stuart G Tangye; Giorgia Bucciol; Jose Casas-Martin; Bethany Pillay; Cindy S Ma; Leen Moens; Isabelle Meyts

doi:10.1111/imcb.12243

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

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

Authors

Stuart G Tangye^{1

2}, Giorgia Bucciol^{3

4}, Jose Casas-Martin³, Bethany Pillay^{1

2}, Cindy S Ma^{1

2}, Leen Moens³, Isabelle Meyts^{3

4}

Affiliations

¹ Immunology Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.
² Faculty of Medicine, St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.
³ Laboratory for Inborn Errors of Immunity, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.
⁴ Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.

PMID: 30779216
DOI: 10.1111/imcb.12243

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Actin Cytoskeleton / genetics*
Cytoskeletal Proteins / metabolism*
Humans
Immunity / genetics*
Primary Immunodeficiency Diseases / genetics
Primary Immunodeficiency Diseases / physiopathology
Primary Immunodeficiency Diseases / therapy
Wiskott-Aldrich Syndrome Protein / metabolism*

Substances

Cytoskeletal Proteins
Wiskott-Aldrich Syndrome Protein