Syndromic immunodeficiencies

Abstract

In syndromic immunodeficiencies, clinical features not directly associated with the immune defect are prominent. Patients may present with either infectious complications or with extra-immune medical issues. In addition to the immunologic abnormality, a wide range of organ systems may be affected. A number of different conditions feature symptoms related to the skeletal, neurologic, dermatologic, or gastrointestinal systems. Many of these conditions are associated with single gene defects, although they may also be caused by developmental abnormalities, chromosomal aberrations, or teratogens. The finding of immune deficits in a patient with extra-immune organ system involvement should prompt investigations to determine if an underlying genetic syndrome is present. © 2008 Springer Berlin Heidelberg.