ArticleFrontiers in immunology2025
Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in
Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Clinical Factors Associated with Genetically Confirmed Inborn Errors of Immunity in Children Presenting with Immune Dysregulation.Clinical reviews in allergy & immunology · 2026Review
- Genetic and autoimmune predispositions to fulminant viral hepatitis in children.Frontiers in immunology · 2026Review
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.Journal of clinical medicine · 2025Review
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Authors and funding
8 authors.
Funding
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Abstract
Introduction: X-linked lymphoproliferative disease type 1 (XLP1) is an inborn error of immunity (IEI) caused by pathogenic variants in the Objective: Present a clinical case of fatal HLH associated with a novel Methods: We analyzed clinical and laboratory data of three brothers who died from HLH in early age. Genetic evaluation was performed using a 576-gene panel for IEI (Veritas, Spain, supported by the Jeffrey Modell Foundation). Alive siblings and parents were tested in Scientific Medical Genetic Center LeoGENE, Ukraine. Results: A 1-year-old boy was admitted with a persistent 4-day fever and clinical signs of hepatosplenomegaly, anemia, neutropenia, hypertransaminasemia, and hypoproteinemia. Immunophenotyping revealed decreased CD4, increased CD8 T cells, reduced NK cell counts, and elevated immunoglobulin levels. This patient demonstrated high EBV viremia and positive serological markers for SARS-CoV-2. Despite intensive treatment, HLH progressed rapidly, leading to fatality within 35 days. Genetic testing identified a novel, likely pathogenic hemizygous Conclusion: We identified a novel
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