PRIMARY IMMUNODEFICIENCY DISEASES IN AMERICA: 2007 Study done by the Immune Deficiency Foundation

Primary immunodeficiency diseases are a set of comparatively rare genetic disorders. However, the IDF 2005 Prevalence Survey of 10,000 households indicates that approximately 1 in 1,200 persons in the United States have a diagnosed primary immunodeficiency disease, which would project to an estimated 250,000 cases in this country.

Hence, primary immunodeficiency diseases are more common in the United States than some better known genetic disorders, including hemophilia (less than 15,000), cystic fibrosis (30,000) and Huntington’s Disease (30,000), among others.

Half of all persons with primary immunodeficiency diseases are not diagnosed until they are aged 30 or older. One problem for early diagnosis is that the vast majority of patients have no family history of immune deficiency disease. Nine out of ten patients report repeated serious or unusual infections prior to diagnosis.

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Indeed, earlier surveys have found that most patients report that they were initially tested for immune deficiency because of repeated infections, serious infections or unusual infections. Unfortunately, the average time between the onset of symptoms and initial diagnosis as immune deficient in the 2007 survey was 12.4 years for this patient population. The cost of late diagnosis is a heavy burden of disease on the patient. Nearly half of immune deficient patients (49%) report suffering permanent functional impairments prior to diagnosis. The likelihood of permanent impairment of lung function, mobility, digestive function, vision and hearing is related to the time between symptom onset and initial diagnosis of immune deficiency.

Only three out five persons with primary immunodeficiency diseases (61%) describe their current health as good, very good or excellent. Most (63%) say their health causes no limitations or only slight limitations on work, play and other activities. Nonetheless, the general health, activity limitation and hospitalization rates for persons with primary immunodeficiency disease are measurably poorer than the general public. A significant proportion of this difference is related to permanent functional impairments suffered prior to diagnosis and treatment as immune deficient.

The most common form of treatment for primary immunodeficiency diseases is immunoglobulin (IgG) therapy, which is the standard of care for most PIDD antibody deficiencies. More than four out of five patients with PIDD (85%) in the Third National Patient Survey report being treated with IVIG or SCIG on a regular basis for their condition. However, only 74% are currently being treated with either form of IgG therapy.

Almost all patients with PIDD are currently covered by some form of health insurance or health plan, most commonly through employer group insurance. Nonetheless, a significant proportion of those who have discontinued IG therapy have done so as a result of cost or coverage.

In addition, many immune deficient patients report having had problems in obtaining treatment as a result of product availability or reimbursement.

Despite a generally positive outlook after diagnosis for most patients with primary immunodeficiency diseases, the time to diagnosis after symptom onset is much too long even today. Delayed diagnosis after symptom onset produces functional impairments as a result of infections in many patients, which unnecessarily limits their general health status and activities after treatment for their immune deficiency disorder.

The long-term outlook for most patients with primary immunodeficiency diseases, while good, could be greatly improved by earlier diagnosis and better access to appropriate care and treatment.

For more information please go to IDF website at