Genetic immunodeficiency diseases

Abstract

The approach to the patient with genetic immunodeficiency is multidisciplinary, and requires close interaction between the primary care physician, immunologist, and other specialists. Dermatologists may play a key role in both the diagnosis of immunodeficiency based on recurrent infection or specific cutaneous abnormalities and in the management of cutaneous complications. The availability of bone marrow and stem cell transplantation has been life-saving for many affected children. The underlying genetic basis is now known for most forms of immunodeficiency, which has facilitated confirmation of patient diagnosis and prenatal diagnosis. Gene therapy has already been initiated for severe combined immunodeficiency, and will certainly play a growing role in therapy of this group of disorders in the future.