ArticleThe Journal of allergy and clinical immunology2022
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
Open access · bronzeAbstract readMulticenter Study
In one paragraph
Article in The Journal of allergy and clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 2 pooled it
7.6field-weighted citation impact, top 2% of its field
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Systematic literature reviews to identify epidemiological, clinical, economic and health-related quality of life evidence in activated PI3Kδ syndrome (APDS).BMC immunology · 2025Pooled it
- Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review.Advances in therapy · 2025Pooled it
- Trial
- How I treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome.Journal of human immunity · 2026Review
- Shrinking Spleens and Nodes, Expanding Horizons: Leniolisib and the Future of Activated Phosphoinositide 3-Kinase Delta Syndrome.The journal of allergy and clinical immunology. In practice · 2026Review
- Outcome of second conditioned allogeneic stem cell transplant in children with non-SCID inborn errors of immunity.Blood advances · 2026Article
- Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision.Journal of human immunity · 2026Article
- αβT/CD19-depleted Allogeneic Stem Cell Transplantation in Adults with Inborn Errors of Immunity.Journal of clinical immunology · 2026Article
- Case Report: First occurrence of smoldering multiple myeloma in activated phosphoinositide 3-Kinase δ syndrome.Frontiers in oncology · 2026Article
- Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study.Frontiers in immunology · 2026Article
- APDS treatment in Germany: decision criteria, costs and contribution of leniolisib to outcomes.Frontiers in immunology · 2026Article
- Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival.Transplantation · 2026Article
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- Real-World Health Care Resource Utilization and Costs Among Patients with Activated Phosphoinositide 3-Kinase Delta (PI3Kδ) Syndrome in the United States.Advances in therapy · 2025Article
- Refractory marginal zone lymphoma uncovers activated phosphoinositide 3-kinase delta syndrome type 1 (APDS1).The journal of allergy and clinical immunology. Global · 2025Article
- Inborn errors of immunity presenting with lymphoproliferation: lessons from a case series.Annals of hematology · 2025Review
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
- Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS).Orphanet journal of rare diseases · 2025Article
- Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled study.Clinical and experimental immunology · 2025Article
- Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI).Journal of clinical immunology · 2025Article
Corrections and comments
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Authors and funding
54 authors at 20 institutions in 17 countries.
Dimana DimitrovaExperimental Transplantation and Immunotherapy Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. Electronic address: dimana.dimitrova@nih.gov.
Zohreh NademiChildren'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.
Maria Elena MaccariDepartment 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.
Stephan EhlDepartment 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.
Gulbu UzelLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Takahiro TomodaDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Tsubasa OkanoDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Kohsuke ImaiDepartment of Community Pediatrics, Perinatal, and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Benjamin CarpenterDepartment of Haematology, University College Hospital National Health Service Trust, London, United Kingdom.
Winnie IpDepartment of Immunology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom; University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Kanchan RaoDepartment of Bone Marrow Transplantation, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom.
Austen J J WorthDepartment of Immunology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom; University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Alexandra LaberkoDepartment of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Anna MukhinaDepartment of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Bénédicte NévenUnité d'Immuno-hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Université de Paris, Paris, France; Institut Imagine, Paris, France.
Despina MoshousUnité d'Immuno-hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Université de Paris, Paris, France; Institut Imagine, Paris, France.
Carsten SpeckmannDepartment 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.
Klaus WarnatzCenter for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Claudia WehrCenter for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Medicine I, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Hassan AbolhassaniDivision of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Asghar AghamohammadiResearch Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Jacob J BleesingDivision of Bone Marrow Transplantation and Immunodeficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Jasmeen DaraDepartment of Pediatrics, Division of Allergy, Immunology, Blood and Marrow Transplantation, Benioff Children's Hospital, University of California San Francisco, San Francisco, Calif.
Christopher C DvorakDepartment of Pediatrics, Division of Allergy, Immunology, Blood and Marrow Transplantation, Benioff Children's Hospital, University of California San Francisco, San Francisco, Calif.
Sujal GhoshDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital Düsseldorf, Düsseldorf, Germany.
Hyoung Jin KangDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Cancer Research Institute, Wide River Institute of Immunology, Seoul, Korea.
Gašper MarkeljDepartment of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Center, Ljubljana, Slovenia.
Arunkumar ModiUniversity of Arkansas for Medical Sciences Department of Pediatrics, Little Rock, Ark.
Diana K BayerStead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Ansgar SchulzDepartment of Pediatrics, University Medical Center Ulm, Ulm, Germany.
Marina Garcia-PratPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Pere Soler-PalacínPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Musa KarakükcüDepartment of Pediatric Hematology and Oncology, Erciyes University, Kayseri, Turkey.
Ebru YilmazDepartment of Pediatric Hematology and Oncology, Erciyes University, Kayseri, Turkey.
Eleonora GambineriDepartment of "NEUROFARBA": Section of Child's Health, University of Florence, Florence, Italy; Department of Haematology-Oncology: BMT Unit, "Anna Meyer" Children's Hospital, Florence, Italy.
Mariacristina MenconiUnità Operativa Oncoematologia Pediatrica, Azienda Ospedaliero Universitaria Pisana Santa Chiara, Pisa, Italy.
Tania N MasmasPediatric Hematopoietic Stem Cell Transplantation and Immunodeficiency, The Child and Adolescent Clinic, Copenhagen University Hospital, Copenhagen, Denmark.
Mette HolmDepartment of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Carmem BonfimDepartment of Immunology, Hospital Pequeno Principe, Curitiba, Brazil.
Carolina PrandoFaculdades Pequeno Príncipe, Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil.
Stephen HughesDepartment of Paediatric Immunology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
Stephen JollesImmunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.
Emma C MorrisInstitute of Immunity and Transplantation, University College London, London, United Kingdom.
Neena KapoorCancer and Blood Disease Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California.
Sylwia KoltanDepartment of Pediatric Hematology and Oncology, Collegium Medicum Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland.
Shankara PaneeshaDepartment of Haematology and Stem Cell Transplantation, Birmingham Heartlands Hospital, Birmingham, United Kingdom.
Colin StewardSchool of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom.
Robert WynnDepartment of Paediatric Immunology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
Ulrich DuffnerBlood and Bone Marrow Transplantation, Helen DeVos Children's Hospital, Grand Rapids, Mich; Department of Pediatrics and Human Development, Spectrum Health and Michigan State University, Grand Rapids, Mich.
Andrew R GenneryChildren'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.
Arjan C LankesterDepartment of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Mary SlatterChildren'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.
Jennifer A KanakryExperimental Transplantation and Immunotherapy Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. Electronic address: jennifer.kanakry@nih.gov.
University of Freiburg · DENational Health Service · GBNational Institutes of Health · USGreat North Children's Hospital · GBTokyo Medical and Dental University · JPDmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology · RUErciyes University · TRHôpital Necker-Enfants Malades · FRRoyal Manchester Children's Hospital · GBUniversity of California, San Francisco · USVall d'Hebron Hospital Universitari · ESAarhus University Hospital · DKAzienda Ospedaliera Universitaria Pisana · ITChildren's Medical Center · IRCincinnati Children's Hospital Medical Center · USCopenhagen University Hospital · DKDüsseldorf University Hospital · DEHeartlands Hospital · GBHospital Erasto Gaertner · BRKarolinska University Hospital · SE
Funding
NIH Hematology Oncology Fellowship ProgramZIEBC010843 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI HILL, ELIZABETH · 2009 to 2025
$104.7MCharacterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2MReduced toxicity allogeneic hematopoietic cell transplantation in malignanciesZIABC012065 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI KANAKRY, JENNIFER · 2022 to 2025
$3.0MIntramural NIH HHS Z99 CA999999
Abstract
backgroundActivated phosphoinositide 3-kinase delta syndrome (APDS) is a combined immunodeficiency with a heterogeneous phenotype considered reversible by allogeneic hematopoietic cell transplantation (HCT).
objectivesThis study sought to characterize HCT outcomes in APDS.
methodsRetrospective data were collected on 57 patients with APDS1/2 (median age, 13 years; range, 2-66 years) who underwent HCT.
resultsPre-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.
conclusionsGraft 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.
Indexed as
Hematopoietic Stem Cell TransplantationAdolescentAdultAgedChildChild, PreschoolClass I Phosphatidylinositol 3-KinasesFemaleGraft RejectionHumansKaplan-Meier EstimateMaleMiddle AgedMTOR InhibitorsPhosphatidylinositol 3-KinasesPrimary Immunodeficiency DiseasesClass I Phosphatidylinositol 3-KinasesMTOR InhibitorsPhosphatidylinositol 3-Kinasesactivated phosphoinositide 3-kinase delta syndromeallogeneic hematopoietic cell transplantationgraft failurelymphoproliferationmTOR inhibitorPrimary immunodeficiencyserotherapy
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