Primary immunodeficiencies caused by mutations in actin regulatory proteins. Issue 1 (18th December 2018)

• Record Type: Journal Article
• Authors: Janssen, Erin; Geha, Raif S.
• Is Part Of: Immunological reviews. Volume 287:Issue 1(2019)
• Page Start: 121
• Page End: 134
• Publication Date: 2018-12-18
• Subjects: actin -- primary immunodeficiencies -- WASp; Immunology -- Periodicals; Transplantation of organs, tissues, etc -- Periodicals; 616.079
• DOI: 10.1111/imr.12716
• Languages: English
• ISSNs: 0105-2896

Abstract

Summary: The identification of patients with monogenic gene defects have illuminated the function of different proteins in the immune system, including proteins that regulate the actin cytoskeleton. Many of these actin regulatory proteins are exclusively expressed in leukocytes and regulate the formation and branching of actin filaments. Their absence or abnormal function leads to defects in immune cell shape, cellular projections, migration, and signaling. Through the study of patients' mutations and generation of mouse models that recapitulate the patients' phenotypes, our laboratory and others have gained a better understanding of the role these proteins play in cell biology and the underlying pathogenesis of immunodeficiencies and immune dysregulatory syndromes.