Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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National Institutes of Health
Bethesda, United States
Hôpital Necker-Enfants Malades
Paris, France
Cincinnati Children's Hospital Medical Center
Cincinnati, United States
Great North Children's Hospital
Newcastle upon Tyne, United Kingdom
Inserm
Paris, France
Great Ormond Street Hospital
London, United Kingdom
Leiden University Medical Center
Leiden, The Netherlands
Karolinska University Hospital
Stockholm, Sweden
Karolinska Institutet
Stockholm, Sweden
Heinrich Heine University Düsseldorf
Düsseldorf, Germany
References
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How I use allogeneic HSCT for adults with inborn errors of immunity.
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Screening of hemophagocytic lymphohistiocytosis in children with severe sepsis in pediatric intensive care.
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The Journal of allergy and clinical immunology 2022; (150(2)):456-466 doi:10.1016/j.jaci.2021.10.037.
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T-replete HLA-matched grafts vs T-depleted HLA-mismatched grafts in inborn errors of immunity.
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Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1.
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Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood.
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How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist.
Bosch JVWT, Hlaváčková E, Derpoorter C, et al.
Pediatric hematology and oncology 2023; (40(2)):131-146 doi:10.1080/08880018.2022.2085830.
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Impact of cytomegalovirus infection prior to hematopoietic stem cell transplantation in children with inborn errors of immunity.
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European journal of pediatrics 2022; (181(11)):3889-3898 doi:10.1007/s00431-022-04614-5.
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A great disturbance in the force: IL-2 receptor defects disrupt immune homeostasis.
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Current opinion in pediatrics 2022; (34(6)):580-588 doi:10.1097/MOP.0000000000001181.
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Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.
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The Journal of experimental medicine 2023; (220(1)) doi:10.1084/jem.20220484.
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Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.
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Inborn Errors of Immunity.
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The Journal of clinical investigation 2023; (133(12)).
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Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance.
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Ruxolitinib-based regimen in children with primary hemophagocytic lymphohistiocytosis.
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Haematologica 2024; (109(2)):458-465 doi:10.3324/haematol.2023.283478.
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Long-term parental distress after pediatric hematopoietic stem cell transplantation for nonmalignant diseases.
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Pediatric blood & cancer 2023; (70(11)):e30638 doi:10.1002/pbc.30638.
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Pre-Emptive Use of Rituximab in Epstein-Barr Virus Reactivation: Incidence, Predictive Factors, Monitoring, and Outcomes.
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Inflamed-HLH, MAS, or something else?
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Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.
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Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity.
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Blood 2024; (144(5)):565-580 doi:10.1182/blood.2024024038.
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Epstein-Barr Virus Monitoring after an Allogeneic Hematopoietic Stem Cell Transplant: Review of the Recent Data and Current Practices in Canada.
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The kinase ITK controls a Ca2+-mediated switch that balances TH17 and Treg cell differentiation.
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Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.
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Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report.
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International journal of molecular sciences 2024; (25(23)) doi:10.3390/ijms252313181.
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Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia
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Insights into the Absence of Lymphoma Despite Fulminant Epstein-Barr Virus Infection in Patients with XIAP Deficiency.
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Problem-Solving Skills Training for Parents of Children Undergoing Hematopoietic Stem Cell Transplantation: A Mixed Methods Feasibility Study.
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Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.
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Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview.
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Rubella-associated granuloma in a patient with a compound heterozygous RAG1 defect and review of the literature.
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Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in CD27.
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αβT/CD19-depleted Allogeneic Stem Cell Transplantation in Adults with Inborn Errors of Immunity.
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From T-cell defect to tumorigenesis: Epstein-Barr virus-associated smooth muscle tumors in ITK deficiency.
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Immune Reconstitution After Hematopoietic Stem Cell Transplantation: Cellular Dynamics, Clinical Determinants, and Emerging Therapeutic Strategies.
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PMID: 42692989