X-Linked Immunodeficiency

Excerpt

Primary immunodeficiencies (PID) are a heterogeneous group of diseases, mostly inherited, caused by more than 400 intrinsic disorders of the immune system. Patients suffer from frequent and recurrent infections as well as the symptoms of immune dysregulation such as autoimmunity, lymphoproliferation, granulomas, chronic lung diseases, and susceptibility to malignancies.

Seven different immune deficiency states, which are transmitted with the X chromosome, have been described. Those are X-linked chronic granulomatous disease (X-CGD), X-linked immunodeficiency with hyper-IgM, X-linked lymphoproliferative syndrome, Wiskott-Aldrich syndrome, X-linked severe combined immunodeficiency (X-SCID), X-linked agammaglobulinemia (XLA), and IPEX (immune deficiency, polyendocrinopathy, enteropathy, and X-linked expressions).

Although these diseases are rarely seen as diseases, they are associated with serious infections and increased morbidity and mortality from the early stages of life, as they cause cellular and/or humoral immune deficiency. Revealing these gene defects over the X chromosome ensures the identification of the carriers, however, this identification is quite difficult in the absence of family history.