F-actin remodeling defects as revealed in primary immunodeficiency disorders.

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