Affiliations: SRBI, Silver Spring, MD, USA | Medical Advisory Committee for the Immune Deficiency
Foundation, IDF, Towson, MD, USA
Note: [] Address for correspondence: R.H. Buckley, Duke University School
of Medicine, P.O. Box 2898, 363 Jones Building, Durham, NC 27710, USA. E-mail:
buckL003@mc.duke.edu
Abstract: Rationale: Although health surveys are routinely used to estimate
the population incidence and prevalence of many chronic and acute conditions in
the US population, they have infrequently been used for "rare" conditions
such as primary immunodeficiency diseases (PID). Accurate prevalence measures
are needed to separate the truly rare condition from those that primary care
doctors are likely to see in their practices today, if early diagnosis and
treatment are to be achieved. Methods: A national probability sample of
10,000 households was sampled by random digit dialing and screened by telephone
to identify how many of the nearly 27,000 household members had been diagnosed
with a PID. Results: A total of 23 household members in 18 households
were reported with a specific diagnosis for PID (CVID, IgA, IgG, XLA, SCID,
CGD), whereas additional cases were reported as a PID without a confirmatory
diagnosis. These findings suggest a population prevalence of diagnosed PID in
the United States at approximately 1 in 1,200 persons. Conclusions: Diagnoses of PID in the United States are far more common than suggested in the
literature.
Keywords: Primary immunodeficiency diseases, incidence, prevalence in the United States, Schulman, Ronca & Bucuvalas Inc. (SRBI) for the Immune Deficiency
Foundation
