Xlp1 | List of Frontiers open access articles

Case Report

Published on 30 May 2025

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection

in Primary Immunodeficiencies

Jiaxun Li
Dongcan Mo
Luyu Lv
Fuling Huang
Binyan Wu
Chunjuan He
Hao Wu
Wenpeng Pang
Yan Li
Liping Guo

Frontiers in Immunology

doi 10.3389/fimmu.2025.1580909

2,147 views
1 citation

Case Report

Published on 19 May 2025

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

in Primary Immunodeficiencies

Oksana Boyarchuk
Alla Volokha
Nataliia Yarema
Olga Dyvoniak
Tetyana Tomashivska
Ivanna Shymanska
Halyna Makukh
Jolan E. Walter

Frontiers in Immunology

doi 10.3389/fimmu.2025.1602107

2,470 views
1 citation

Review

Published on 04 Apr 2018

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective

in Primary Immunodeficiencies

Neelam Panchal
Claire Booth
Jennifer L. Cannons
Pamela L. Schwartzberg

Frontiers in Immunology

doi 10.3389/fimmu.2018.00666

18,874 views
71 citations

Case Report

Published on 23 Mar 2022

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

in Genetics of Common and Rare Diseases

Won Kyung Kwon
Jee Ah Kim
Jong-Ho Park
Doo Ri Kim
Su Eun Park
Yae Jean Kim
Keon Hee Yoo
Ja-Hyun Jang
Eun Suk Kang

Frontiers in Pediatrics

doi 10.3389/fped.2022.812590

2,972 views
2 citations

Case Report

Published on 25 Apr 2024

Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease

in Primary Immunodeficiencies

Bangtao Li
Weiming Chen
Xiaodi Cai
Yuanping Hai
Qiming Pang
Wei Xiang
Zhengzheng Zhang

Frontiers in Immunology

doi 10.3389/fimmu.2024.1381472

2,228 views
3 citations

Case Report

Published on 03 Apr 2024

Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1

in Primary Immunodeficiencies

Giuliana Giardino
Vittoria Lanni
Massimo Mascolo
Daniela Russo
Emilia Cirillo
Roberta Romano
Francesca Cillo
Laura Grilli
Maria Rosaria Prencipe
Adriana Iuliano

Frontiers in Immunology

doi 10.3389/fimmu.2024.1370991

2,208 views
1 citation

Case Report

Published on 20 Dec 2021

Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation

in Primary Immunodeficiencies

Jolanda Steininger
Raphael Rossmanith
Christoph B. Geier
Alexander Leiss-Piller
Lukas Thonhauser
Simone Weiss
Johannes A. Hainfellner
Michael Freilinger
Wolfgang M. Schmidt
Martha M. Eibl

Frontiers in Immunology

doi 10.3389/fimmu.2021.747738

4,408 views
4 citations

Review

Published on 12 Jun 2025

X-linked lymphoproliferative disease type 1: a clinical and genetic update

in Primary Immunodeficiencies

Jiaxun Li
Luyu Lv
Qingqing Wei
Wenpeng Pang
Chunjuan He
Hao Wu
Liping Guo

Frontiers in Immunology

doi 10.3389/fimmu.2025.1620327

2,789 views

Articles

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease

Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1

Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation

X-linked lymphoproliferative disease type 1: a clinical and genetic update