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 - 02nd May 2024
2024 - India - X-Linked Lymphoproliferative Syndrome: A Spectrum of Clinical and Immunological Profile and Novel Pathogenic Variants from Chandigarh, India
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 - China - Case report: Non-EBV associated cerebral vasculitis and cerebral haemorrhage in X-linked lymphoproliferative disease
2024 - Italy - Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1
2023 - Japan - X-linked lymphoproliferative syndrome associated with Epstein-Barr virus encephalitis and lymphoproliferative disorder
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
2022 - China -Potential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report
2021 - USA - Two Clonally Distinct B-Cell Lymphomas Reveal the Diagnosis of XLP1 in a Male Child and His Asymptomatic Male Relatives: Case Report and Review of the Literature
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 - UK - Successful Auxiliary Liver Transplant Followed by Hematopoietic Stem Cell Transplantation in X-Linked Lymphoproliferative Disease Type 1
2021 - China - Fatal unexpected death due to X-linked lymphoproliferative disease
2020 - UK - Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations
2020 - Latvia - X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases
2020 - India - X-linked Lymphoproliferative Disease (XLP1) Presenting as Non-Epstein Barr Virus (EBV) - Related Hemophagocytic Lymphohistiocytosis (HLH)
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 - Japan - An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection
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
2022 - Japan - Fatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody
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
2018 - USA - FOXP3 renders activated human regulatory T cells resistant to restimulation-induced cell death by suppressing SAP expression
2018 - UK - Transfer of gene-corrected T cells corrects humoral and cytotoxic defects in patients with X-linked lymphoproliferative disease
