Cellular and genetic basis of primary immune deficiencies

Knowledge of the genetic mutations of primary immune deficiency syndromes has grown significantly over the last 30 years. In this article the authors present an overview of the clinical aspects, laboratory evaluation, and genetic defects of primary immunodeficiencies, with an emphasis on the pathophysiology of the known molecular defects. This article is designed to give the primary pediatrician a general knowledge of this rapidly expanding field.