Overview

Primary Immune Deficiencies are a group of over 100 hereditary diseases caused by defects in one or more genes responsible for the development of key components of the immune system. The type of the immune defect dictates in many ways, the age at which the immune defect becomes manifest, and the kinds of medical complications which are likely to develop.

When a very essential component of the immune system is flawed, the age of onset of symptoms is usually in the first year of life; these defects can result in significant disease in these infants if not treated. The most severe forms are the genetic defects that lead to Severe Combined Immune Deficiency (SCID), sometimes called, so-called the "Bubble Boy" Disease. The treatment of this form of immunodeficiency, bone marrow or stem cell transplantation.

However, many other forms of Primary immune Deficiency are also known, not treated by transplant. These can be diagnosed in infants, children or adults. Some of the milder, but still very significant forms, lead to the occurrence of many episodes of "ordinary" illnesses such as pneumonia, bronchitis, chronic sinusitis or ear infections. These conditions can be either overlooked or misdiagnosed as an allergy, asthma, or simple bronchitis. When not addressed, Primary Immune Deficiency can leave a patient vulnerable to prolonged illnesses, disability, and in the most severe cases, organ damage.

Primary immune deficiency can be diagnosed through blood tests that evaluate immune functions. These tests are commonly done in stages, based on clinical history, in order to narrow down the area of abnormality. One commonly used scheme is shown on Table 1. Once diagnosed, physicians have a number of treatments ranging from various antibiotics, to gamma globulin infusions or cytokine treatments. Other treatments include bone marrow or stem cell transplant. In the future, gene therapy may be possible for the same severe forms.. Primary immune deficiency is not AIDS. While both involve the immune system, primary immune deficiency occurs as a result of a genetic flaw while AIDS is an acquired infection.

Table 1