Medical Research

Published Research - XLP1

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

XLP1 - Case Studies

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