Marcia Boyle

Use of intravenous immunoglobulin and adjunctive therapies in the treatment of primary immunodeficiencies: A working group report of and study by the Primary Immunodeficiency Committee of the American Academy of Allergy Asthma and Immunology.

There are an expanding number of primary immunodeficiency diseases (PIDDs), each associated with unique diagnostic and therapeutic complexities. Limited data, however, exist supporting specific therapeutic interventions. Thus, a survey of PIDD management was administered to allergists/immunologists in the United States to identify current perspectives and practices. Among 405 respondents, the majority of key management practices identified were consistent with existing data and guidelines, including the provision of immunoglobulin therapy, immunoglobulin dosing and selective avoidance of live viral vaccines. Practices for which there are little specific data or evidence-based guidance were also examined, including evaluation of IgG trough levels for patients receiving immunoglobulin, use of prophylactic antibiotics and recommendations for complementary/alternative medicine. Here, variability applied to PIDD patients was identified. Differences between practitioners clinically focused upon PIDD and general allergists/immunologists were also identified. Thus, a need for expanded clinical research in PIDD to optimize management and potentially improve outcomes was defined.

Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective survey

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.

USIDNET: A Strategy to Build a Community of Clinical Immunologists

ObjectivesInformation 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.MethodsRegistry demographics and data were extracted using proprietary reporting tools. Educational efforts and cell repository data were collected from centralized source material.ResultsThe USIDNET Registry contains 3,459 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.ConclusionsUSIDNET’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.

Primary Immunodeficiency Diseases: An Opportunity in Pediatrics for Improving Patient Outcomes

Objectives. Primary immunodeficiency diseases (PIDDs) are caused by inherent deficits in immune defenses that result in abnormal susceptibility to infection. In most cases, early and appropriate diagnosis can improve patient outcomes. The objective of this study was to evaluate understanding, recognition, and diagnosis of PIDD among pediatricians. Methods. A mail survey sent to a sample of pediatricians obtained from the American Medical Association and American Osteopathic Association. Results were compared with a similar survey of specialists who are members of the American Academy of Asthma, Allergy and Immunology. Results. More than a third (35%) of pediatricians were uncomfortable with the recognition and diagnosis of PIDD despite 95% having ordered screening tests or referring patients to specialists to be evaluated for PIDD, and 77% having followed at leastone patient with PIDD. In all, 84% of pediatricians were unaware that professional guidelines for PIDD exist. Conclusions. Patients with PIDD would benefit from improved recognition of the diseases by pediatricians in order to facilitate earlier diagnosis and optimize ongoing therapy.

Local and National Advocacy Support

Decisions by third-party payors that are restricting delivery of appropriate IgG treatment for primary immunodeficiency disease (PIDD) are summoning action from patients, physicians, and their organizations to ensure that high quality treatment remains accessible. Some of the strongest advocacy to date is from patient organizations, such as the Immune Deficiency Foundation (IDF), which strive to educate stakeholders on key issues that determine patient access to appropriate IgG treatment. These issues include the ability to choose the appropriate site of care based on a patient’s experience and circumstance and greater awareness of product choice. Advocacy by physicians on these issues at the local level is needed, as are national efforts by organizations such as the American Academy of Allergy, Asthma & Immunology and their regional societies.

Comparative effectiveness research in the United States and primary immunodeficiency diseases

The United States enacted legislation in 2010 that will promote the use of comparative effectiveness research in the making of healthcare decisions. Of concern with this relatively new mandate is the possibility of using comparative effectiveness research as a means only to mitigate costs rather than to focus on quality of care. This is of particular concern for patients with rare and chronic conditions, such as primary immunodeficiency diseases. The Immune Deficiency Foundation (IDF) uses their survey research to advocate for the needs of patients with primary immunodeficiency diseases to ensure that their unique medical concerns are not overlooked but instead, integrated within an overall healthcare emphasis on personalized medicine and differences in patient treatment response. IDF research shows the efficacy of treatment with immunoglobulin replacement therapy (IG therapy) for many patients with primary immunodeficiency diseases, that IG therapy is underused in the primary immunodeficient community, and that IG therapies are unique and not interchangeable.

Family Physician Perspectives on Primary Immunodeficiency Diseases.

Primary immunodeficiency diseases (PIDs) include over 250 diverse disorders. The current study assessed management of PID by family practice physicians. The American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Committee and the Immune Deficiency Foundation conducted an incentivized mail survey of family practice physician members of the American Medical Association and the American Osteopathic Association in direct patient care. Responses were compared with subspecialist immunologist responses from a similar survey. Surveys were returned by 528 (of 4500 surveys mailed) family practice physicians, of whom 44% reported following ≥1 patient with PID. Selective immunoglobulin A deficiency (21%) and chronic granulomatous disease (11%) were most common and were followed by significantly more subspecialist immunologists (P < 0.05). Use of intravenously administered immunoglobulin and live viral vaccinations across PID was significantly different (P < 0.05). Few family practice physicians were aware of professional guidelines for diagnosis and management of PID (4 vs. 79% of subspecialist immunologists, P < 0.05). Family practice physicians will likely encounter patients with PID diagnoses during their career. Differences in how family practice physicians and subspecialist immunologists manage patients with PID underscore areas where improved educational and training initiatives may benefit patient care.