The following are lists of curated research from PubMed. We expect this to be of help to those clinicians or researchers new to XLP1. Where possible we have provided links to the full paper, but for some papers you may need to access the paper via your institutions paid log-in. The papers included here have publication dates of 2018 onwards.
Last updated - 11th February 2025
2024 - USA - X-Linked Lymphoproliferative Disease
2023 - USA - When to Suspect Inborn errors of Immunity in Epstein-Barr virus-related Lymphoproliferative disorders
2022 - Japan - Pre-emptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1
2022 - UK - Patients with XLP type 1 have variable numbers of NKT cells
2022 - USA - When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders
2020 - China -X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic
2018 - USA - X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
2024 - USA - Lentiviral vectors for precise expression to treat X-linked lymphoproliferative disease
2024 - China - Case report: Non-EBV associated cerebral vasculitis and cerebral haemorrhage in X-linked lymphoproliferative disease
2024 - China - A case of adult-onset X-linked lymphoproliferative disease mimicking pulmonary infection
2023 - Japan - X-linked lymphoproliferative syndrome associated with Epstein-Barr virus encephalitis and lymphoproliferative disorder
2022 - China - Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1
2022 - China - Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report
2022 - South Korea - Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1
2021 - Austria - Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation
2021 - Switzerland - X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report
2021 - China - Fatal unexpected death due to X-linked lymphoproliferative disease
2020 - Latvia - X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases
2020 - USA - The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor
2020 - Sweden - Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease
2019 - Israel - Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations
2018 - Japan - Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1
2018 - USA - EBV Infection in XLP1 Manifested Solely by Behavioral Aggression and Effective Treatment Using Rituximab
2018 - China - Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report
2024 - Japan - Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis
2024 - USA - Lentiviral vectors for precise expression to treat X-linked lymphoproliferative disease
2022 - UK - Patients with XLP type 1 have variable numbers of NKT cells
2022 - China - Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1
2022 - South Korea - Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1
2021 - Italy - Diacylglycerol Kinase alpha in X Linked Lymphoproliferative Disease Type 1
2020 - China - Chapter Six - Regulation of MHC class I-independent NK cell education by SLAM family receptors
2020 - Sweden - Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease
2019 - Italy - 2B4 dysfunction in XLP1 NK cells: More than inability to control EBV infection
2019 - China - NK cell recognition of hematopoietic cells by SLAM-SAP families
2019 - Italy - Identification of a novel DGKα inhibitor for XLP-1 therapy by virtual screening
