A Survey of Diagnosis and Therapy of Inborn Errors of Immunity among Practice-based Physicians and Clinicbased Pneumologists and Hemato-Oncologists

Thomas Lehrnbecher¹Alexandra Russo^2*Gernot Rohde³

• ¹Department of Pediatrics, Division of Hematology, Oncology and Hemostaseology, Johann Wolfgang Goethe University, Frankfurt/Main, Germany, Frankfurt/Main, Germany
• ²Department of Pediatric Hematology, Oncology, Hemostaseology, Center for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Rhineland-Palatinate, Germany
• ³Department of Respiratory Medicine, Medical Clinic I, Johann Wolfgang Goethe University, Frankfurt/Main, Germany, Frankfurt/Main, Germany

Introduction: The diagnosis of inborn errors of immunity (IEIs) has made significant progress in recent years, which is due, at least in part, to the widespread availability of genetic tests. However, prior to genetic testing, a suspicion of IEI must be raised, which is mostly based on clinical criteria. This step is largely the task of practice-based physicians or physicians in pneumology or hemato-oncology departments, where IEI patients present due to their symptoms. Methods: Since IEI are rare, a survey was conducted to assess knowledge and experience in diagnosing and treating patients with IEI in German practice-based physicians and clinic-based pneumologists and hemato-oncologist. Results/discussion: We found a low to moderate level of awareness and interest in the topic among practice-based physicians which contrasted with clinic-based pneumologists and hemato-oncologists who had greater perception of the topic and mainly a substantial expertise. However, due to the self-selection bias it should be taken into account that clinicians with an above-average expertise might have been overrepresented. Physicians who worked at a dedicated IEI clinic reported significant numbers of patients with IEI. Diagnostic tests for IEI were available in all clinics surveyed. Nevertheless, in most clinics and practices, IEI is a disease of secondary importance. The surveys display an overview of the current awareness, diagnostic and treatment landscape for inborn errors of immunity (IEIs) among physicians in Germany. Our results suggest that practice-based physicians in particular should be better supported in identifying IEI and their signs and symptoms in order to improve diagnosis and care of patients with IEI. The lack of patient-related outcome data in this study could be supplemented by linking registries in future studies.