Chaim M. Roifman

35 – Primary T-cell immunodeficiencies

Abstract The field of primary immunodeficiency continues to expand. The rate of discovery of new genes associated with primary immunodeficiency, especially T-cell immunodeficiency, has been accelerating because of the growing application of exome and genome studies. In this chapter, we focus on conditions where cellular deficiency is the predominant component leading to immunodeficiency. Attention has been given to describing unusual clinical phenotypes as well as novel immunodeficiencies. Included are also multisystem syndromes that encompass significant T-cell immunodeficiency, condition-specific treatment options, and new diagnostic developments, such as screening of newborns for severe combined immunodeficiency (SCID).