F-actin remodeling defects as revealed in primary immunodeficiency disorders

Clinical Immunology : the Official Journal of the Clinical Immunology Society
W J M JanssenMarianne L Boes

Abstract

Primary immunodeficiencies (PIDs) are a heterogeneous group of immune-related diseases. PIDs develop due to defects in gene-products that have consequences to immune cell function. A number of PID-proteins is involved in the remodeling of filamentous actin (f-actin) to support the generation of a contact zone between the antigen-specific T cell and antigen presenting cell (APC): the immunological synapse (IS). IS formation is the first step towards T-cell activation and essential for clonal expansion and acquisition of effector function. We here evaluated PIDs in which aberrant f-actin-driven IS formation may contribute to the PID disease phenotypes as seen in patients. We review examples of such contributions to PID phenotypes from literature, and highlight cases in which PID-proteins were evaluated for a role in f-actin polymerization and IS formation. We conclude with the proposition that patient groups might benefit from stratifying them in distinct functional groups in regard to their f-actin remodeling phenotypes in lymphocytes.

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Citations

Jan 25, 2020·The Journal of Cell Biology·Daniel Blumenthal, Janis K Burkhardt
Apr 16, 2020·Journal of Leukocyte Biology·Yolanda R Carrasco
Feb 19, 2021·The Journal of Experimental Medicine·Nutthakarn SuwankitwatBrian M Iritani

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