Observational studyThe Journal of allergy and clinical immunology2017
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
Observational study in The Journal of allergy and clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06959771 (Base Editing Hematopoietic Stem Cell and BE T Cell Gene Therapy for CD40L-HyperIgM Syndrome-Single Patient Study), which is not on this map. Cited by 60 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Base Editing Hematopoietic Stem Cell and BE T Cell Gene Therapy for CD40L-HyperIgM Syndrome-Single Patient Study
Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 130 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.Journal of clinical immunology · 2023Pooled it
- Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.Immunologic research · 2019Trial
- Reduced-intensity conditioning for hematopoietic cell transplant for HLH and primary immune deficiencies.Blood · 2018Trial
- Deciphering B cell Maturation Dynamics in Hyper-IgM Syndromes.Journal of clinical immunology · 2026Article
- Allogeneic hematopoietic cell transplantation with reduced-toxicity conditioning for X-linked hyper-IgM syndrome.International journal of hematology · 2026Article
- Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature.The Journal of infectious diseases · 2026Article
- Clinical applications and challenges of CD40/CD40L signaling regulation in autoimmune diseases.Frontiers in immunology · 2026Review
- A novel CD40LG mutation causing X‑linked hyper-IgM syndrome.Global medical genetics · 2025Article
- Case Report:Frontiers in immunology · 2025Article
- Recurrent Talaromyces Marneffei Infection Revealing X-Linked Hyper IgM Syndrome in an HIV-Negative Infant: A Diagnostic and Therapeutic Challenge.Infection and drug resistance · 2025Article
- DNA-PK inhibition enhances gene editing efficiency in HSPCs for CRISPR-based treatment of X-linked hyper IgM syndrome.Molecular therapy. Methods & clinical development · 2024Article
- Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review.Frontiers in cellular and infection microbiology · 2024Review
- Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4The EMBO journal · 2023Article
- Scalable GMP-compliant gene correction of CD4+ T cells with IDLV template functionally validatedMolecular therapy. Methods & clinical development · 2023Article
- Correcting inborn errors of immunity: From viral mediated gene addition to gene editing.Seminars in immunology · 2023Review
- Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.BMC pediatrics · 2022Article
- Review
- Conditioning regimens for inborn errors of immunity: current perspectives and future strategies.International journal of hematology · 2022Review
- HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh.Blood advances · 2022Article
Corrections and comments
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Authors and funding
63 authors at 20 institutions in 18 countries.
Funding
Abstract
backgroundX-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell transplantation (HCT) has been considered a curative therapy, but the procedure has inherent complications and might not be available for all patients.
objectivesWe sought to collect data on the clinical presentation, treatment, and follow-up of a large sample of patients with XHIGM to (1) compare long-term overall survival and general well-being of patients treated with or without HCT along with clinical factors associated with mortality and (2) summarize clinical practice and risk factors in the subgroup of patients treated with HCT.
methodsPhysicians caring for patients with primary immunodeficiency diseases were identified through the Jeffrey Modell Foundation, United States Immunodeficiency Network, Latin American Society for Immunodeficiency, and Primary Immune Deficiency Treatment Consortium. Data were collected with a Research Electronic Data Capture Web application. Survival from time of diagnosis or transplantation was estimated by using the Kaplan-Meier method compared with log-rank tests and modeled by using proportional hazards regression.
resultsTwenty-eight clinical sites provided data on 189 patients given a diagnosis of XHIGM between 1964 and 2013; 176 had valid follow-up and vital status information. Sixty-seven (38%) patients received HCT. The average follow-up time was 8.5 ± 7.2 years (range, 0.1-36.2 years). No difference in overall survival was observed between patients treated with or without HCT (P = .671). However, risk associated with HCT decreased for diagnosis years 1987-1995; the hazard ratio was significantly less than 1 for diagnosis years 1995-1999. Liver disease was a significant predictor of overall survival (hazard ratio, 4.9; 95% confidence limits, 2.2-10.8; P < .001). Among survivors, those treated with HCT had higher median Karnofsky/Lansky scores than those treated without HCT (P < .001). Among patients receiving HCT, 27 (40%) had graft-versus-host disease, and most deaths occurred within 1 year of transplantation.
conclusionNo difference in survival was observed between patients treated with or without HCT across all diagnosis years (1964-2013). However, survivors treated with HCT experienced somewhat greater well-being, and hazards associated with HCT decreased, reaching levels of significantly less risk in the late 1990s. Among patients treated with HCT, treatment at an early age is associated with improved survival. Optimism remains guarded as additional evidence accumulates.
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Registered trials
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