Research graph
References from How I Treat: Transplantation for primary immune regulatory diseases and inflammatory disorders. Local targets link to admitted publications; unresolved targets remain external evidence.
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
10.70962/jhi.20250003 · 2025 · External reference
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
10.70962/jhi.20250002 · 2025 · External reference
Primary immune regulatory disorders: A growing universe of immune dysregulation
10.1097/aci.0000000000000689 · 2020 · External reference
Primary immune regulatory disorders: Undiagnosed needles in the haystack?
10.1186/s13023-022-02249-1 · 2022 · External reference
Mapping the landscape of autoimmunity and autoinflammation in inborn errors of immunity: Broad distribution with distinct clustering patterns
10.3389/fimmu.2025.1725282 · 2025 · External reference
Treatment of systemic juvenile idiopathic arthritis
10.1038/s41584-023-01042-z · 2023 · External reference
Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency
10.1002/ppul.25373 · 2021 · External reference
Lung disease in STAT3 hyper-IgE syndrome requires intense therapy
10.1111/all.13753 · 2019 · External reference
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency
10.1016/j.jaci.2023.08.004 · 2023 · External reference
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy
10.1126/science.aaa1663 · 2015 · External reference
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
10.1016/j.jaci.2023.10.018 · 2024 · External reference
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
10.1016/j.jaci.2018.07.020 · 2018 · External reference
Normalized interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in patients with type I Interferonopathies
10.1007/s10875-024-01826-2 · 2024 · External reference
Pharmacokinetics, pharmacodynamics, and safety of subcutaneous anifrolumab in patients with systemic lupus erythematosus, active skin disease, and high type I interferon gene signature: A multicentre, randomised, double-blind, placebo-controlled, phase 2 study
10.1016/s2665-9913(20)30342-8 · 2021 · External reference
Emapalumab in primary haemophagocytic lymphohistiocytosis and the pathogenic role of interferon gamma: A pharmacometric model-based approach
10.1111/bcp.15133 · 2022 · External reference
Emapalumab in children with primary hemophagocytic lymphohistiocytosis
10.1056/nejmoa1911326 · 2020 · External reference
Systemic T-cell activation and IFN-γ activity in indeterminate severe hepatitis are reminiscent of hemophagocytic lymphohistiocytosis: Implications for T-cell- and IFN-γ-directed therapies
10.1016/j.jaci.2024.08.029 · 2025 · External reference
Emapalumab use in malignancy-associated hemophagocytic lymphohistiocytosis in the United States: The REAL-HLH study
10.1182/bloodadvances.2024013690 · 2025 · External reference
Precision medicine in the treatment of primary immune deficiency patients with disorders of immune dysregulation
10.1007/s12016-021-08871-4 · 2022 · External reference
Hematopoietic cell transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey
10.3389/fimmu.2020.00239 · 2020 · External reference
Inborn Errors Working Party of the European Society for B, Marrow T, the Primary Immune Deficiency Treatment C. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations
10.1016/j.jaci.2017.03.049 · 2018 · External reference
Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity
10.1080/1744666x.2026.2641540 · 2026 · External reference
CD3+/CD19+ Depleted matched and mismatched unrelated donor hematopoietic stem cell transplant with targeted T cell addback is associated with excellent outcomes in pediatric patients with nonmalignant hematologic disorders
10.1016/j.bbmt.2018.10.003 · 2019 · External reference
Towards graft- versus-host disease-free alternative donor transplant platforms for patients with acquired aplastic anemia
10.3324/haematol.2024.286544 · 2025 · External reference
Long-term follow-up of the Baltimore experience with hematopoietic cell transplantation for severe aplastic anemia using post-transplantation cyclophosphamide
10.1016/j.jtct.2025.10.021 · 2026 · External reference
Alternative donor BMT with posttransplant cyclophosphamide as initial therapy for acquired severe aplastic anemia
10.1182/blood.2023020435 · 2023 · External reference
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: A 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium
10.1016/s0140-6736(23)00731-6 · 2023 · External reference
Hematopoietic cell transplantation in chronic granulomatous disease: A study of 712 children and adults
10.1182/blood.2020005590 · 2020 · External reference
Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: A PIDTC report
10.1182/bloodadvances.2025017662 · 2026 · External reference
IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts
10.1371/journal.pmed.0050026 · 2008 · External reference
Role of interferon-γ in immune-mediated graft failure after allogeneic hematopoietic stem cell transplantation
10.3324/haematol.2019.216101 · 2019 · External reference
The role of interferon-gamma and its signaling pathway in pediatric hematological disorders
10.1002/pbc.28900 · 2021 · External reference
Identification of new soluble factors correlated with the development of graft failure after Haploidentical Hematopoietic Stem Cell Transplantation
10.3389/fimmu.2020.613644 · 2020 · External reference
CXCL9 as a novel prognostic marker to identify high-risk adults with hemophagocytic lymphohistiocytosis
10.1182/blood.2025030976 · 2025 · External reference
Emapalumab for the treatment of immune-mediated graft failure after HSCT
10.1038/s41409-024-02487-w · 2025 · External reference
Interferon-complement loop in transplant-associated thrombotic microangiopathy
10.1182/bloodadvances.2020001515 · 2020 · External reference
The use of biologic modifiers as a bridge to hematopoietic cell transplantation in primary immune regulatory disorders
10.3389/fimmu.2021.692219 · 2021 · External reference
Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European society for blood and marrow transplantation inborn errors working party study
10.1016/j.jaci.2024.08.020 · 2024 · External reference
Transplantation for immune dysregulatory disorders: Current themes and future expectations
10.1097/mop.0000000000001401 · 2024 · External reference
Hematopoietic stem cell transplant for JAK-STAT disorders
10.1016/j.jaip.2026.05.018 · 2026 · External reference
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging
10.70962/jhi.20250027 · 2025 · External reference
Emapalumab as bridge to hematopoietic cell transplant for STAT1 gain-of-function mutations
10.1016/j.jaci.2023.05.016 · 2023 · External reference
Emapalumab therapy for hemophagocytic lymphohistiocytosis before reduced-intensity transplantation improves chimerism
10.1182/blood.2024025977 · 2024 · External reference
Pre-transplant immunosuppression in pediatric patients undergoing haploidentical stem cell transplant for sickle cell disease is associated with positive outcomes
10.1038/s41409-025-02776-y · 2026 · External reference
Hematopoietic stem cell transplantation for severe thalassemia patients from haploidentical donors using a novel conditioning regimen
10.1016/j.bbmt.2020.01.002 · 2020 · External reference
Durable engraftment after pharmacological pre-transplant immune suppression followed by reduced-toxicity myeloablative haploidentical stem cell transplantation in highly HLA-immunized adults with sickle cell disease
10.1038/s41409-024-02257-8 · 2024 · External reference
Haematopoietic stem cell transplant for inborn errors of immunity-Who and when?
10.1111/bjh.20248 · 2025 · External reference
Monoallelic expression can govern penetrance of inborn errors of immunity
10.1038/s41586-024-08346-4 · 2025 · External reference
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
10.1172/jci142434 · 2021 · External reference
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis
10.1182/blood-2018-01-827485 · 2018 · External reference
Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1
10.1016/j.clim.2022.108993 · 2022 · External reference
Expanded newborn screening using Genome Sequencing for early actionable conditions
10.1001/jama.2024.19662 · 2025 · External reference
FOXP3 exon 2 controls Treg stability and autoimmunity
10.1126/sciimmunol.abo5407 · 2022 · External reference
Allogeneic stem cell transplantation compared to conservative management in adults with inborn errors of immunity
10.1182/blood.2022015482 · 2023 · External reference
How I use allogeneic HSCT for adults with inborn errors of immunity
10.1182/blood.2020008187 · 2021 · External reference
Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: An EBMT IEWP study
10.1182/blood.2022015506 · 2022 · External reference
Younger children with nonmalignant disease have increased incidence of mixed myeloid chimerism after allogeneic hematopoietic cell transplantation with busulfan-based conditioning
10.1016/j.jtct.2025.02.002 · 2025 · External reference
Age impacts risk of mixed chimerism following reduced-intensity conditioning hematopoietic cell transplantation for non-severe combined immune deficiency inborn errors of immunity
10.1016/j.jtct.2023.09.024 · 2024 · External reference
How I assess comorbidities before hematopoietic cell transplantation
10.1182/blood-2012-09-455063 · 2013 · External reference
Hematopoietic cell transplantation (HCT)-specific comorbidity index: A new tool for risk assessment before allogeneic HCT
10.1182/blood-2005-05-2004 · 2005 · External reference
The Hematopoietic Cell Transplant Comorbidity Index predicts survival after allogeneic transplant for nonmalignant diseases
10.1182/blood-2018-09-876284 · 2019 · External reference
Expanded HCT-CI definitions capture Comorbidity better for younger patients of allogeneic HCT for nonmalignant diseases
10.1016/j.jtct.2022.11.020 · 2023 · External reference
Limitations of applying the hematopoietic cell transplantation comorbidity index in pediatric patients receiving allogeneic hematopoietic cell transplantation
10.1016/j.bbmt.2020.10.003 · 2021 · External reference
Primary Immune Regulatory Disorders (PIRD): Tools for diagnosis and disease activity assessment to guide therapy
10.1016/j.jaip.2026.05.015 · 2026 · External reference
The immune deficiency and dysregulation activity (IDDA2.1 ‘Kaleidoscope’) score and other clinical measures in inborn errors of immunity
10.1007/s10875-021-01177-2 · 2022 · External reference
Machine learning-assisted diagnosis classification of primary immune dysregulation using IDDA2.1 phenotype profiling
10.1016/j.jaci.2025.10.022 · 2026 · External reference
Pre-transplant immune dysregulation predicts for poor outcome following allogeneic haematopoietic stem cell transplantation in adolescents and adults with inborn errors of immunity (IEI)
10.1007/s10875-024-01854-y · 2025 · External reference
IMPACT (Immune Monitoring and Phenotype Assessment of Clinical Trajectory) for patients with inborn errors of immunity from the Primary Immune Deficiency Treatment Consortium (PIDTC)
10.1016/j.jaip.2026.05.025 · 2026 · External reference
JAK inhibitor withdrawal causes a transient pro-inflammatory cascade: A potential mechanism for major adverse cardiac events
10.1371/journal.pone.0311706 · 2025 · External reference
Ruxolitinib discontinuation syndrome: Incidence, risk factors, and management in 251 patients with myelofibrosis
10.1038/s41408-020-00392-1 · 2021 · External reference
Graft rejection markers in children undergoing hematopoietic cell transplant for bone marrow failure
10.1182/bloodadvances.2021005231 · 2021 · External reference
Population pharmacokinetics of the anti-interferon-gamma monoclonal antibody emapalumab: An updated analysis
10.1007/s40744-024-00669-y · 2024 · External reference
Peritransplantation ruxolitinib prevents acute graft-versus-host disease in patients with myelofibrosis undergoing allogenic stem cell transplantation
10.1016/j.bbmt.2018.05.023 · 2018 · External reference
Impaired virus-specific T cell responses in patients with myeloproliferative neoplasms treated with ruxolitinib
10.1002/hon.2769 · 2020 · External reference
Ruxolitinib-induced reactivation of cytomegalovirus and Epstein-Barr virus in graft-versus-host disease
10.1016/j.leukres.2022.107005 · 2023 · External reference
Long-term clinical outcomes and B cell immune reconstitution following Allo-HCT with prophylactic, post-transplant rituximab
10.1016/j.jtct.2024.02.025 · 2024 · External reference
Two novel assays demonstrate persistent daratumumab exposure in a pediatric patient with delayed engraftment following allogeneic hematopoietic stem cell transplantation
10.1016/j.jcyt.2024.01.005 · 2024 · External reference
Durable chimerism and long-term survival after unrelated umbilical cord blood transplantation for pediatric hemophagocytic lymphohistiocytosis: A single-center experience
10.1016/j.bbmt.2017.06.013 · 2017 · External reference
Use of bone marrow cells is associated with improved outcomes when compared to peripheral blood stem cell after haplo-identical transplants with post transplant cyclophosphamide, a study from of the CTIWP-EBMT
10.1038/s41409-025-02735-7 · 2026 · External reference
Peripheral blood or bone marrow grafts for mismatched unrelated donors with post-transplantation cyclophosphamide-based graft-versus-host disease prophylaxis
10.1016/j.jtct.2025.10.012 · 2026 · External reference
Haploidentical bone marrow transplantation in patients with relapsed or refractory severe aplastic anaemia in the USA (BMT CTN 1502): A multicentre, single-arm, phase 2 trial
10.1016/s2352-3026(22)00206-x · 2022 · External reference
Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism
10.1038/s41409-026-02906-0 · 2026 · External reference
Serotherapy as graft-versus-host disease prophylaxis in haematopoietic stem cell transplantation for Acute lymphoblastic leukaemia
10.3389/fped.2021.805189 · 2021 · External reference
Improved survival with model-based dosing of antithymocyte globulin in pediatric hematopoietic cell transplantation
10.1182/bloodadvances.2024014836 · 2025 · External reference
Model-based antithymocyte globulin in αβhaplo-hematopoietic stem cell transplantation facilitates engraftment, expedites T cell recovery, and mitigates the risk of acute graft-versus-host disease
10.1016/j.jtct.2024.05.015 · 2024 · External reference
Impact of rabbit anti-thymocyte globulin (ATG) exposure on outcomes after ex vivo T-cell-depleted hematopoietic cell transplantation in pediatric and young adult patients
10.1016/j.jcyt.2024.01.004 · 2024 · External reference
Individualised dosing of anti-thymocyte globulin in paediatric unrelated allogeneic haematopoietic stem-cell transplantation (PARACHUTE): A single-arm, phase 2 clinical trial
10.1016/s2352-3026(21)00375-6 · 2022 · External reference
Association between anti-thymocyte globulin exposure and CD4+ immune reconstitution in paediatric haemopoietic cell transplantation: A multicentre, retrospective pharmacodynamic cohort analysis
10.1016/s2352-3026(15)00045-9 · 2015 · External reference
Model-informed precision dosing for alemtuzumab in paediatric and young adult patients undergoing allogeneic haematopoietic cell transplantation
10.1111/bcp.14955 · 2022 · External reference
Exposure-response analysis of alemtuzumab in pediatric allogeneic HSCT for nonmalignant diseases: The ARTIC study
10.1182/bloodadvances.2022009051 · 2023 · External reference
A prospective pilot study of a novel alemtuzumab target concentration intervention strategy
10.1038/s41409-021-01460-1 · 2021 · External reference
Association of busulfan exposure and outcomes after HCT for patients with an inborn error of immunity
10.1182/bloodadvances.2024013275 · 2024 · External reference
Association of busulfan exposure with survival and toxicity after haemopoietic cell transplantation in children and young adults: A multicentre, retrospective cohort analysis
10.1016/s2352-3026(16)30114-4 · 2016 · External reference
Fludarabine exposure in the conditioning prior to allogeneic hematopoietic cell transplantation predicts outcomes
10.1182/bloodadvances.2018029421 · 2019 · External reference
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: An EBMT inborn errors working party analysis
10.1182/blood.2021014687 · 2022 · External reference
Reduced-intensity conditioning for hematopoietic cell transplant for HLH and primary immune deficiencies
10.1182/blood-2018-01-828277 · 2018 · External reference
Alemtuzumab, Fludarabine, Melphalan, and Thiotepa conditioning for transplantation in inborn errors of immunity
10.1016/j.jtct.2025.11.028 · 2025 · External reference
Post-transplant CD34+ selected stem cell “Boost” for mixed chimerism after reduced-intensity conditioning hematopoietic stem cell transplantation in children and young adults with primary immune deficiencies
10.1016/j.bbmt.2018.03.013 · 2018 · External reference
Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity
10.1182/blood.2024024038 · 2024 · External reference
Post-transplant cyclophosphamide for graft-versus-host disease prophylaxis: Current status and optimization strategies
10.1016/j.coi.2025.102662 · 2025 · External reference
αβT/CD19-depleted allogeneic stem cell transplantation in adults with inborn errors of immunity
10.1007/s10875-025-01978-9 · 2026 · External reference
T-replete HLA-matched grafts vs T-depleted HLA-mismatched grafts in inborn errors of immunity
10.1182/bloodadvances.2020004072 · 2022 · External reference
Long-term skin-resident memory T cells proliferate in situ and are involved in human graft-versus-host disease
10.1126/scitranslmed.abb7028 · 2020 · External reference
Allogeneic haematopoietic stem-cell transplantation for children with refractory systemic juvenile idiopathic arthritis and associated lung disease: Outcomes from an international, retrospective cohort study
10.1016/s2665-9913(24)00275-3 · 2025 · External reference
Outcomes of allogeneic hematopoietic stem cell transplant in Monogenic inflammatory Bowel disease
10.1016/j.cgh.2025.03.018 · 2025 · External reference
Harmonized immune recovery monitoring after HCT: Evidence and practical guidance from the Westhafen Intercontinental Group
10.1182/bloodadvances.2025016915 · 2025 · External reference
Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency
10.1016/j.jaci.2020.04.033 · 2021 · External reference
Transplantation after CD45-ADC corrects Rag1 immunodeficiency in congenic and haploidentical settings
10.1016/j.jaci.2023.07.017 · 2024 · External reference
Selective haematological cancer eradication with preserved haematopoiesis
10.1038/s41586-024-07456-3 · 2024 · External reference
Conditioning with anti-CD47 and anti-CD117 plus JAK inhibition enables toxic payload-free allogeneic transplantation
10.1182/bloodadvances.2023012457 · 2024 · External reference
Nonmyeloablative conditioning combined with the anti-CD117 antibody Briquilimab in Older adults with high-risk AML and MDS
10.1182/blood.2025031858 · 2026 · External reference
Irradiation- and busulfan-free stem cell transplantation in Fanconi anemia using an anti-CD117 antibody: A phase 1b trial
10.1038/s41591-025-03817-1 · 2025 · External reference
Randomized phase III SIERRA trial of 131I-Apamistamab before allogeneic hematopoietic cell transplantation versus conventional care for relapsed/refractory AML
10.1200/jco.23.02018 · 2025 · External reference
Selective hematopoietic stem cell ablation using CD117-antibody-drug-conjugates enables safe and effective transplantation with immunity preservation
10.1038/s41467-018-08201-x · 2019 · External reference
Alloengraftment without significant toxicity or GVHD in CD45 antibody-drug conjugate-conditioned Fanconi anemia mice
10.1182/blood.2023023549 · 2024 · External reference
Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: Interim results of a non-randomised, open-label, phase 1/2 clinical study
10.1016/s2352-3026(19)30021-3 · 2019 · External reference
Forkhead-Box-P3 gene Transfer in human CD4+ T Conventional cells for the generation of stable and efficient regulatory T cells, suitable for immune modulatory therapy
10.3389/fimmu.2017.01282 · 2017 · External reference
Genome editing with TALEN, CRISPR-Cas9 and CRISPR-Cas12a in combination with AAV6 homology donor restores T cell function for XLP
10.3389/fgeed.2022.828489 · 2022 · External reference
Gene editing of hematopoietic stem cells restores T-cell response in familial hemophagocytic lymphohistiocytosis
10.1016/j.jaci.2023.08.003 · 2024 · External reference
Lentiviral gene therapy for familial hemophagocytic lymphohistiocytosis type 3, caused by UNC13D genetic defects
10.1089/hum.2019.329 · 2020 · External reference
