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Purpose: Primary immunodeficiency disorders (PIDDs) represent a class of genetic diseases of the immune system. Delayed primary immunodeficiency disorder diagnosis leads to increased morbidity and mortality. This study assessed current primary immunodeficiency disorder practice among physicians and awareness among the public., Methods: Primary immunodeficiency disorder practice and awareness data were collected using national surveys of physicians (DocStyles) and the public (HealthStyles)., Results: Physician respondents (n = 1250) were family practitioners (41%), internists (39%), and pediatricians (20%). Overall, 32% of physicians had diagnosed, treated, or referred a patient with primary immunodeficiency disorder in the last 5 years. Physician specialty was the only significant predictor of having a patient with primary immunodeficiency disorder in unconditional logistic modeling (pediatrician odds ratio = 4.4; internist odds ratio = 1.5; and family practitioner odds ratio = referent). When a possible primary immunodeficiency disorder case presented, 81% of physicians performed laboratory testing and 77% referred the patient to a specialist. Of the general population surveyed (n = 5399), 40% were aware of primary immunodeficiency disorder. Those respondents were more likely to be older, female, white, married (ever), more highly educated, with a higher income level. Most people learned about primary immunodeficiency disorder from media outlets (64% television/radio and 41% magazine/newspaper)., Conclusion: Additional primary immunodeficiency disorder educational efforts, which target both physicians and the public, may be needed because increased primary immunodeficiency disorder awareness may lead to earlier diagnosis and less morbidity and mortality.

Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for severe combined immunodeficiency (SCID). Detailed assessment of the long-term outcome of HSCT, ie, the occurrence of clinical events and the quality and stability of immune reconstitution, is now required. We performed a single-center retrospective analysis of the long-term outcome of HSCT in 90-patient cohort followed for between 2 and 34 years (median, 14 years). Clinical events and immune reconstitution data were collected. Almost half the patients have experienced one or more significant clinical events, including persistent chronic graft-versus-host disease (GVHD), autoimmune and inflammatory manifestations, opportunistic and nonopportunistic infections, chronic human papilloma virus (HPV) infections, and a requirement for nutritional support. With the notable exception of severe HPV infection, these complications tend to become less common 15 years later after HSCT. A multivariate analysis showed that the occurrence of these events correlated with non-genoidentical donors, diagnosis of Artemis SCID, and quality of immune reconstitution. In most cases, HSCT enables long-term survival with infrequent sequelae. However, the occurrence of relatively late-onset complications is a concern that requires specific means of prevention and justifies careful patient follow-up.

Purpose: Four apparently unique disorders are known among the Southwestern Athabasan Amerindians, i.e., the Navajo and Apache; they are Athabaskan severe combined immunodeficiency, Navajo neuropathy, Navajo poikiloderma, and Athabaskan brainstem dysgenesis. This study reviews background information on Athabaskan groups and clinical descriptions of these recessive disorders., Methods: The major clinical findings of these four disorders are reviewed. In addition, the findings of epidemiological surveys are included where available., Results: Although the importance of genetic bottlenecks in increasing the frequency of rare, sometimes unique, autosomal recessive disorders is known for a number of populations, similar phenomena among Native Americans seem to be less well known., Conclusion: As many more Native Americans move off the Reservation, the awareness of susceptibility to particular genetic diseases needs to be more widely disseminated.