Molecular Classification of Primary Immunodeficiencies of T Lymphocytes.

摘要: Proper regulation of the immune system is required for protection against pathogens and preventing autoimmune disorders. Inborn errors due to inherited or de novo germline mutations can lead loss protective immunity, aberrant homeostasis, development disease, combinations these. Forward genetic screens involving clinical material from patients with primary immunodeficiencies (PIDs) vary in severity life-threatening disease affecting multiple cell types organs relatively mild susceptibility a limited range conditions. As central mediators innate adaptive responses, T cells are critical orchestrators effectors response. such, several PIDs result altered function. PID-associated functional defects complete absence uncontrolled effector activation. Furthermore, gene products known PID causal genes involved diverse molecular pathways ranging receptor signaling regulators protein glycosylation. Identification biochemical cause not only guide course treatment patients, but also inform our understanding basic biology behind In this chapter, we review causes that intrinsically affect function particular focus on perturbations pathways.