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

Frontiers in Immunology

Immunology

Bodo Grimbacher¹  Maria-Elena Maccari²  Andrea Meinhardt³  Georgios Sogkas⁴  Fabian Hauck⁵  Julia Körholz⁶  Catharina Schuetz⁶  Sven Vanselow⁷  Leif Hanitsch⁸ 

[1]Center for Chronic Immunodeficiency, University of Freiburg Medical Center, Freiburg, Germany

[2]Center for Chronic Immunodeficiency, University of Freiburg Medical Center, Freiburg, Germany

[3]Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany

[4]Center for Pediatrics and Adolescent Medicine, Department of Pediatric Oncology, Hematology and Immunodeficiencies, University Hospital Giessen, Giessen, Germany

[5]Clinic for Rheumatology and Immunology, Center for Internal Medicine, Hannover Medical School, Hannover, Germany

[6]Hannover Medical School, Cluster of Excellence RESIST (EXC 2155), Hannover, Germany

[7]Department of Pediatric Immunology and Rheumatology, Dr. Von Hauner Children’s Hospital, Ludwig-Maximilians-Universität (LMU) Munich University Hospital, Munich, Germany

[8]Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany

[9]University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany

[10]Infill Healthcare Communication, Königswinter, Germany

[11]Institute of Medical Immunology, Institute of Occupational Medicine, Charité – University Medicine Berlin, corporate member of Freie University, Berlin and Humboldt-University of Berlin, Berlin, Germany

关键词: PID;    IEI;    APDS;    immunodeficiency;    stem cell transplantation;    HSCT;    survey;    targeted therapy;   

DOI  :  10.3389/fimmu.2023.1279652

 received in 2023-08-18, accepted in 2023-09-19,  发布年份 2023

来源: Frontiers

【 摘 要 】

IntroductionThe 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.MethodsWe 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.Results/discussionMost 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.

【 授权许可】

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