Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers
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 specializ...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-10-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1279652/full |
| _version_ | 1797665782015983616 |
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| author | Sven Vanselow Leif Hanitsch Fabian Hauck Julia Körholz Julia Körholz Maria-Elena Maccari Maria-Elena Maccari Andrea Meinhardt Georgios Sogkas Georgios Sogkas Catharina Schuetz Catharina Schuetz Bodo Grimbacher |
| author_facet | Sven Vanselow Leif Hanitsch Fabian Hauck Julia Körholz Julia Körholz Maria-Elena Maccari Maria-Elena Maccari Andrea Meinhardt Georgios Sogkas Georgios Sogkas Catharina Schuetz Catharina Schuetz Bodo Grimbacher |
| author_sort | Sven Vanselow |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T19:49:00Z |
| format | Article |
| id | doaj.art-f7e2a8b318584d25b79f569e684fb0cd |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-03-11T19:49:00Z |
| publishDate | 2023-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-f7e2a8b318584d25b79f569e684fb0cd2023-10-05T13:47:33ZengFrontiers Media S.A.Frontiers in Immunology1664-32242023-10-011410.3389/fimmu.2023.12796521279652Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI CentersSven Vanselow0Leif Hanitsch1Fabian Hauck2Julia Körholz3Julia Körholz4Maria-Elena Maccari5Maria-Elena Maccari6Andrea Meinhardt7Georgios Sogkas8Georgios Sogkas9Catharina Schuetz10Catharina Schuetz11Bodo Grimbacher12Infill Healthcare Communication, Königswinter, GermanyInstitute of Medical Immunology, Institute of Occupational Medicine, Charité – University Medicine Berlin, corporate member of Freie University, Berlin and Humboldt-University of Berlin, Berlin, GermanyDepartment of Pediatric Immunology and Rheumatology, Dr. Von Hauner Children’s Hospital, Ludwig-Maximilians-Universität (LMU) Munich University Hospital, Munich, GermanyDepartment of Pediatrics, University Hospital Carl Gustav Carus, Dresden, GermanyUniversity Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, GermanyCenter for Chronic Immunodeficiency, University of Freiburg Medical Center, Freiburg, GermanyDivision of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, GermanyCenter for Pediatrics and Adolescent Medicine, Department of Pediatric Oncology, Hematology and Immunodeficiencies, University Hospital Giessen, Giessen, GermanyClinic for Rheumatology and Immunology, Center for Internal Medicine, Hannover Medical School, Hannover, Germany0Hannover Medical School, Cluster of Excellence RESIST (EXC 2155), Hannover, GermanyDepartment of Pediatrics, University Hospital Carl Gustav Carus, Dresden, GermanyUniversity Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, GermanyCenter for Chronic Immunodeficiency, University of Freiburg Medical Center, Freiburg, GermanyIntroductionThe 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.https://www.frontiersin.org/articles/10.3389/fimmu.2023.1279652/fullPIDIEIAPDSimmunodeficiencystem cell transplantationHSCT |
| spellingShingle | Sven Vanselow Leif Hanitsch Fabian Hauck Julia Körholz Julia Körholz Maria-Elena Maccari Maria-Elena Maccari Andrea Meinhardt Georgios Sogkas Georgios Sogkas Catharina Schuetz Catharina Schuetz Bodo Grimbacher Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers Frontiers in Immunology PID IEI APDS immunodeficiency stem cell transplantation HSCT |
| title | Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers |
| title_full | Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers |
| title_fullStr | Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers |
| title_full_unstemmed | Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers |
| title_short | Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers |
| title_sort | future directions in the diagnosis and treatment of apds and iei a survey of german iei centers |
| topic | PID IEI APDS immunodeficiency stem cell transplantation HSCT |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1279652/full |
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