ArticleBlood2011
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
Article in Blood, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 125 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
125 citing papers in PubMed, 2 syntheses or guidelines pooled it, 312 citations in OpenAlex.
- The neurologic face of X-linked lymphoproliferative syndrome type 1: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.Frontiers in immunology · 2024Pooled it
- Circulating CXCR5+PD-1+ response predicts influenza vaccine antibody responses in young adults but not elderly adults.Journal of immunology (Baltimore, Md. : 1950) · 2014Trial
- Clinical features and prognostic factors of adult systemic chronic active EBV disease: A retrospective analysis in Japan.British journal of haematology · 2026Article
- Variants in human CD48 lead to impaired T cell immunity and increased inflammation.The Journal of clinical investigation · 2026Article
- RASGRP1 Deficiency Manifesting as Severe Vasculopathy and Fatal Autoimmune Hemolytic Anemia.EJHaem · 2026Article
- Genetic mechanisms underlying host susceptibility to central nervous system viral infections.Current opinion in infectious diseases · 2026Review
- Polyclonal evolution of lymphoproliferative disorders in XLP1.Journal of human immunity · 2026Article
- Acquired nonpermissive BM microenvironment impairs HSC proliferation and maintenance, and B-cell development after HSCT.Blood advances · 2026Article
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- Malignancy-Associated Hemophagocytic Lymphohistiocytosis: An Experience of 15 Years in Polish Pediatric Hematology Centers.Journal of blood medicine · 2026Article
- Fulminant liver failure due to Epstein-Barr virus in immunodeficiency disorders.Canadian liver journal · 2025Article
- Review
- First case of primary CNS lymphoma in a patient with severe combined immunodeficiency carrying a novel ZAP70 mutation: a case report.Annals of medicine and surgery (2012) · 2025Article
- Intrathecally expanded GZMK+/GZMH+ CD8 T cells targeting EBV antigens may reduce severity of Multiple Sclerosis.medRxiv : the preprint server for health sciences · 2025Article
- Atypical lymphoproliferations associated with germline genetic variants: a report of the 2024 EA4HP/SH lymphoma workshop.Virchows Archiv : an international journal of pathology · 2025Review
- X-linked lymphoproliferative disease type 1 (XLP1) due to a "de novo" missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency.Research square · 2025Article
- Article
- Epstein-Barr virus-associated lymphomas: biology, molecular genomics and precision oncology.Frontiers in oncology · 2025Review
- Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant inFrontiers in immunology · 2025Article
65 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedPachlopnick-Schmid, Jana [corrected to Pachlopnik Schmid, Jana]
Authors and funding
49 authors at 20 institutions in 16 countries.
Funding
Abstract
X-linked lymphoproliferative disease (XLP1) is a rare immunodeficiency characterized by severe immune dysregulation and caused by mutations in the SH2D1A/SAP gene. Clinical manifestations are varied and include hemophagocytic lymphohistiocytosis (HLH), lymphoma and dysgammaglobulinemia, often triggered by Epstein-Barr virus infection. Historical data published before improved treatment regimens shows very poor outcome. We describe a large cohort of 91 genetically defined XLP1 patients collected from centers worldwide and report characteristics and outcome data for 43 patients receiving hematopoietic stem cell transplant (HSCT) and 48 untransplanted patients. The advent of better treatment strategies for HLH and malignancy has greatly reduced mortality for these patients, but HLH still remains the most severe feature of XLP1. Survival after allogeneic HSCT is 81.4% with good immune reconstitution in the large majority of patients and little evidence of posttransplant lymphoproliferative disease. However, survival falls to 50% in patients with HLH as a feature of disease. Untransplanted patients have an overall survival of 62.5% with the majority on immunoglobulin replacement therapy, but the outcome for those untransplanted after HLH is extremely poor (18.8%). HSCT should be undertaken in all patients with HLH, because outcome without transplant is extremely poor. The outcome of HSCT for other manifestations of XLP1 is very good, and if HSCT is not undertaken immediately, patients must be monitored closely for evidence of disease progression.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.