International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome
| Autor: | Klaus Warnatz, Kohsuke Imai, Bénédicte Neven, Mette Holm, Ulrich Duffner, B Carpenter, Musa Karakukcu, Hassan Abolhassani, Robert Wynn, Neena Kapoor, Jennifer A. Kanakry, Marina Garcia-Prat, Mariacristina Menconi, Anna Mukhina, Pere Soler-Palacín, Takahiro Tomoda, Claudia Wehr, Diana K. Bayer, Eleonora Gambineri, Gulbu Uzel, Austen Worth, Arunkumar Modi, Mary Slatter, Tania Nicole Masmas, Dimana Dimitrova, Carsten Speckmann, J.J. Bleesing, Shankara Paneesha, Kanchan Rao, Sylwia Kołtan, Carmem Bonfim, Jasmeen Dara, Colin G. Steward, Winnie Ip, Emma C. Morris, Asghar Aghamohammadi, Andrew R. Gennery, Gašper Markelj, Luigi D. Notarangelo, Stephen M. Hughes, Sujal Ghosh, Tsubasa Okano, Ansgar Schulz, Arjan C. Lankester, Stephen Jolles, Ebru Yilmaz, Alexandra Laberko, Maria Elena Maccari, Stephan Ehl, Christopher C. Dvorak, Despina Moshous, Hyoung Jin Kang, Carolina Prando, Zohreh Nademi |
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| Přispěvatelé: | Institut Català de la Salut, [Dimitrova D] Experimental Transplantation and Immunotherapy Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. [Nademi Z] Children’s Bone Marrow Transplant Unit, Great North Children’s Hospital, Newcastle upon Tyne, United Kingdom. The Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom. [Maccari ME, Ehl S] Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Center for Chronic Immunodeficiency, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. [Uzel G] Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. [Tomoda T] Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. [Garcia-Prat M, Soler-Palacín P] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Graft Rejection
Male 0301 basic medicine Oncology Allergy lymphoproliferation mTOR inhibitor Kaplan-Meier Estimate Regenerative Medicine Phosphatidylinositol 3-Kinases 0302 clinical medicine hemic and lymphatic diseases Immunology and Allergy Cumulative incidence Child Otros calificadores::/terapia [Otros calificadores] Immunodeficiency Cancer Primary immunodeficiency Hematopoietic Stem Cell Transplantation MTOR Inhibitors Hematology Middle Aged Síndromes de deficiència immunitària - Tractament enfermedades del sistema inmune::síndromes de inmunodeficiencia [ENFERMEDADES] Treatment Outcome surgical procedures operative Child Preschool Immune System Diseases::Immunologic Deficiency Syndromes [DISEASES] Female terapéutica::terapia biológica::tratamientos basados en células y tejidos::trasplante de células::trasplante de células madre::trasplante de células madre hematopoyéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS] Homologous Adult medicine.medical_specialty activated phosphoinositide 3-kinase delta syndrome Adolescent Class I Phosphatidylinositol 3-Kinases Primary Immunodeficiency Diseases graft failure Immunology serotherapy Activated PI3K-delta syndrome Context (language use) Article Young Adult 03 medical and health sciences Rare Diseases Internal medicine medicine Transplantation Homologous Humans Preschool Retrospective Studies Aged Transplantation allogeneic hematopoietic cell transplantation Cèl·lules mare hematopoètiques - Trasplantació business.industry diagnóstico::pronóstico::resultado del tratamiento [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS] Retrospective cohort study Other subheadings::/therapy [Other subheadings] Diagnosis::Prognosis::Treatment Outcome [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT] medicine.disease 030104 developmental biology Graft-versus-host disease allogeneic hemato-poietic cell transplantation Avaluació de resultats (Assistència sanitària) Therapeutics::Biological Therapy::Cell- and Tissue-Based Therapy::Cell Transplantation::Stem Cell Transplantation::Hematopoietic Stem Cell Transplantation [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT] business 030215 immunology |
| Zdroj: | Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', Journal of Allergy and Clinical Immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036 The Journal of allergy and clinical immunology, vol 149, iss 1 Journal of Allergy and Clinical Immunology, 149(1), 410-421. MOSBY-ELSEVIER The Journal of allergy and clinical immunology Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', The Journal of allergy and clinical immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036 Scientia |
| ISSN: | 0091-6749 |
| Popis: | Immunodeficiència primària; Limfoproliferació; Inhibidor de mTOR Inmunodeficiencia primaria; Linfoproliferación; Inhibidor de mTOR Primary immunodeficiency; Lymphoproliferation; MTOR inhibitor Background Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined immunodeficiency with a heterogeneous phenotype considered reversible by allogeneic hematopoietic cell transplantation (HCT). Objectives This study sought to characterize HCT outcomes in APDS. Methods Retrospective data were collected on 57 patients with APDS1/2 (median age, 13 years; range, 2-66 years) who underwent HCT. Results Pre-HCT comorbidities such as lung, gastrointestinal, and liver pathology were common, with hematologic malignancy in 26%. With median follow-up of 2.3 years, 2-year overall and graft failure–free survival probabilities were 86% and 68%, respectively, and did not differ significantly by APDS1 versus APDS2, donor type, or conditioning intensity. The 2-year cumulative incidence of graft failure following first HCT was 17% overall but 42% if mammalian target of rapamycin inhibitor(s) (mTORi) were used in the first year post-HCT, compared with 9% without mTORi. Similarly, 2-year cumulative incidence of unplanned donor cell infusion was overall 28%, but 65% in the context of mTORi receipt and 23% without. Phenotype reversal occurred in 96% of evaluable patients, of whom 17% had mixed chimerism. Vulnerability to renal complications continued post-HCT, adding new insights into potential nonimmunologic roles of phosphoinositide 3-kinase not correctable through HCT. Conclusions Graft failure, graft instability, and poor graft function requiring unplanned donor cell infusion were major barriers to successful HCT. Post-HCT mTORi use may confer an advantage to residual host cells, promoting graft instability. Longer-term post-HCT follow-up of more patients is needed to elucidate the kinetics of immune reconstitution and donor chimerism, establish approaches that reduce graft instability, and assess the completeness of phenotype reversal over time. This research was funded in part from the Intramural Program of the National Cancer Institute, National Institutes of Health. The funding source had no involvement in study design; collection, analysis, and interpretation of data; writing of the report; or in the decision to submit the article for publication. |
| Databáze: | OpenAIRE |
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