CLINICAL-APPLICATION IN PEDIATRICS OF THE KNOWLEDGE OF BIOCHEMICAL-MECHANISMS REGULATING THE INTRACELLULAR NETWORK

After the receptor-ligand interaction, signals generated on the surfac e membrane need to be transduced into the nuclei, thus leading to the activation of gene transcription. Signal transduction from membrane re ceptors to nuceli is a key process of the cell physiology that involve s hundreds of intracellular molecules. The integrity of this process i s necessary for a proper cell differentiation process, and for the cel l activation required to exert a specific cell function. Aim of this r eview is to contribute to ameliorate our understanding of the overall knowledge on the biochemical mechanisms governing the intracellular co mmunication network and to focus on the clinical application of such k nowledge. Recent evidence indicates that abnormalities of signaling mo lecules may result in human diseases. Therefore, the introduction into the clinical practice of innovative technologies in this field may th e Pediatrician recognize new clinical entities, and properly manage su ch patients. With this regard, a fil-st attempt to define clinical cri teria that allow identification of diseases related to abnormalities o f the signal transduction process will be discussed. The major disease s in this field will be reviewed Since most of the recent discoveries in this field concern the immunodeficiency syndromes, a special attent ion will be paid on this group of diseases.