Infants affected with severe combined immunodeficiency (SCID) are susceptible to severe and recurrent infections and do not survive unless provided with immune reconstituting treatments. In the absence of population-based newborn screening, infants with SCID who do not have an affected older relative are ascertained only after they have developed infections. However, only limited data are available from the perspective of patients and families to indicate what proportion of SCID cases might benefit from earlier detection by pre-symptomatic screening, whether adequate treatment facilities are available, and how screening could improve SCID treatment outcomes. A survey of parents of children with SCID evaluated family history, pre- and post-diagnosis events, outcomes, and impact of SCID on families. Affected infants diagnosed with SCID as neonates had better survival, demonstrating the potential benefit of universal newborn screening.

PurposeCommon variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. The purpose of a recent Immune Deficiency Foundation (IDF) mail survey was to assess the factors that are associated with QOL in patients with CVID receiving Ig treatment.MethodsA 75-question survey developed by the IDF and a 12-item Short Form Health Survey (SF-12) to assess QOL were mailed to adults with CVID. Mean SF-12 scores were compared between patients with CVID and the general US adult population normative sample.ResultsOverall, 945 patients with CVID completed the surveys. More than half of the patients (54.9%) received intravenous Ig and 44.9% received subcutaneous Ig treatment. Patients with CVID had significantly lower SF-12 scores compared with the general US population regardless of sex or age (p < 0.05). Route of IgG replacement did not dramatically improve QOL. SF-12 scores were highest in patients with CVID who have well-controlled PIDD, lacked physical impairments, were not bothered by treatment, and received Ig infusions at home.ConclusionThese data provide insight into what factors are most associated with physical and mental health, which can serve to improve QOL in patients in this population. Improvements in QOL can result from early detection of disease, limiting digestive system disease, attention to fatigue, and implementation of an individual treatment plan for the patient.Electronic supplementary materialThe online version of this article (doi:10.1007/s10875-017-0404-8) contains supplementary material, which is available to authorized users.

No abstract

PurposePerceived health (PH) is a subjective measure of global health of individuals. While many studies have evaluated outcomes in patients with primary immune deficiency (PID), published literature evaluating PH among patients with PID is sparse. We evaluated the results of the largest self-reported survey of patients with PID to determine the factors that may contribute to differences in PH.MethodsData from a National Survey of Patients with Primary Immune Deficiency Diseases conducted by the Immune Deficiency Foundation was studied. Multivariate logistic regression was employed for data analysis.ResultsThirty percent of the patients perceived their health status as excellent or very good (EVG), 31 % as good (G), and 39 % as fair, poor or very poor (P). Older patients were less likely to have EVG-PH compared to G-PH. Ones with college degrees were more likely to have P-PH compared to G-PH, and less likely to have EVG-PH. Patients who were acutely ill and hospitalized in the past 12 months, ones with limited activity, and chronic diseases, were more likely to have P-PH compared to G-PH. Patients with “on demand” access to specialty care and ones on regular IVIG had higher OR of having EVG-PH as opposed to G-PH. Patients cared for mostly by an immunologist were less likely to have P-PH compared to G-PH.ConclusionsOur results emphasize the importance of PH in clinical practice. We suggest that recognizing the factors that drive PH in patients with PID is important for the development of disease prevention and health promotion programs, and delivery of appropriate health and social services to individuals with PID.

Objectives Information about patients with primary immune deficiencies can be scarce because of the rarity of the disorders. Individual centers rarely have sufficient patients to educate trainees and garner collective wisdom. Registries for many diseases have proven their worth by providing essential information on disease spectrum, treatments and natural history. This study describes the construction and use of a registry for patients with primary immune deficiencies and other efforts to improve knowledge and care for affected patients and their families. Methods Registry demographics and data were extracted using proprietary reporting tools. Educational efforts and cell repository data were collected from centralized source material. Results The USIDNET Registry contains 3459 patients, with common variable immune deficiency being the most represented. Pilot studies identified strengths and weaknesses of the data. Visiting Professor and Visiting Scholar Programs have been successful, encouraging trainees at all levels to pursue a career in Immunology. Conclusions USIDNET’s comprehensive and integrated approach provides resources that strengthen the field of primary immune deficiencies, as shown by utilization by 312 distinct sites or individuals. The reach of USIDNET’s efforts is extended through the educational resources.