Inherited cytokine and cytokine receptor deficiencies in man

Over the past decades, cytokines and their receptors have been shown to play a decisive role in the differentiation of both innate and adaptive immunity. The essential roles of cytokine/receptor pathways in vivo, however, have remained elusive and poorly defined. In some cases, primary immunodeficiency syndromes have provided the natural models in which the role of cytokines and their receptors in the development and function of the immune system have been elucidated. Animal models of cytokine/receptor deficiencies generated through gene targeting have also played a decisive factor in identifying the true biological roles of cytokine/receptor pathways. The end result of these approaches has been an enormous advance in our understanding of the cytokine control of normal and pathological human conditions, as well as the advent of new diagnostic tools and novel therapies.