Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers.

The diagnosis and treatment of inborn errors of immunity (IEI) is a major challenge as the individual conditions are rare and often characterized by a variety of symptoms, which are often non disease-specific. Ideally, patients are treated in dedicated centers by physicians who specialize in the management of primary immune disorders. In this study, we used the example of Activated PI3Kδ syndrome (APDS), a rare IEI with an estimated prevalence of 1:1,000,000. We conducted surveys by questionnaire and interviewed physicians at different IEI centers in Germany. We queried structural aspects of IEI care in Germany, diagnostic procedures in IEI care (including molecular diagnostics), distribution of APDS patients, APDS symptoms and severity, treatment algorithms in APDS, the role of stem cell transplantation and targeted therapies in IEI with focus on APDS. We were especially interested in how genetic diagnostics may influence treatment decisions, e.g. with regard to targeted therapies. Most centers care for both pediatric and adult patients. A total of 28 APDS patients are currently being treated at the centers we surveyed. Patient journeys vary considerably, as does severity of disease. Genetic diagnosis continues to gain importance - whole genome sequencing is likely to become routine in IEI in the next few years. According to the experts interviewed, stem cell transplantation and - with new molecules being approved - targeted therapies, will gain in importance for the treatment of APDS and IEI in general.

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Copyright © 2023 Vanselow, Hanitsch, Hauck, Körholz, Maccari, Meinhardt, Sogkas, Schuetz and Grimbacher.

Déclaration de conflit d'intérêts

SV is a Medical Writer at infill healthcare communications. Infill received funding from Pharming Group N.V. (Pharming) for the conduction of the survey and the writing of this article. BG, LH, FH, AM, MM and GS received a honorarium for their participation in the survey. BG and CS have renounced any claim to honorarium for the writing of this article; the honorarium for CS’ participation in the survey has been donated to Stiftung Hochschulmedizin, Universitätsklinikum Carl Gustav Carus, Dresden. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be constructed as a potential conflict of interest. The authors declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. The authors declare that this study received funding from Pharming Group N.V. The funder had the following involvement in the study: provided funding for the publication fee and for SV’s and BG’s work on the article, as well as the conduction of the study including honoraria for all participants in the survey.