{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T17:20:54Z","timestamp":1758820854515,"version":"3.41.2"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017691","name":"Guangxi Key Research and Development Program","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>X-linked lymphocytic proliferative disease type 1 (XLP1) is a primary immune deficiency caused by genetic alterations in the <jats:italic>SH2D1A<\/jats:italic> gene, exhibiting a wide variety of severe clinical phenotypes and high mortality. We present the case of a 16-year-old male patient diagnosed with XLP1 who suffered from multiple peripheral nerve demyelinating lesions and extensive cerebral infarction, resulting in two consecutive admissions. The onset of symptoms in his first admission were presented with right foot weakness and difficulty walking. The electromyogram findings revealed multiple peripheral nerve damage of bilateral lower limbs, mainly demyelination. Combined with the cerebrospinal fluid tests and medical history, the patient was diagnosed with chronic inflammatory demyelinating multiple radiculopathy (CIDP). After neurological rehabilitation physiotherapy, vitamin B12 supplements and hormonotherapy, the patient\u2019s symptoms improved and he was discharged. Ten days after discharge, he was readmitted with dizziness, lethargy, memory and cognitive decline. Imaging findings included MRI, Arterial spin labeling (ASL) and magnetic resonance spectral (MRS) confirmed that the patient had suffered from a cerebral infarction, the results of follow-up magnetic resonance angiography (MRA) and magnetic resonance vessel wall imaging were consistent with the typical imaging findings of cerebral vasculitis. No EBV infection was detected during his two admissions, which was extremely rare in XLP1 cases. Due to the patient\u2019s guardians declining the hematopoietic stem cell transplantation (HSCT), we were limited to symptomatic and supportive treatments, focusing on improving brain metabolism, and with a transitory stable condition at present. This case expands our understanding of rare XLP1 complications, shows a potential to study on the immune-related mechanism of possibly lymphocytic abnormal proliferation disorder associated with XLP1 involving both peripheral nerves and cerebrovascular, underscores that XLP1 patients should have regular examinations on their central and peripheral nervous system in order to detect early lesions and prevent serious consequences. And we are able to gain valuable experience and lessons from the patient\u2019s disease progression and prognosis.<\/jats:p>","DOI":"10.3389\/fimmu.2025.1580909","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T06:11:44Z","timestamp":1748585504000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection"],"prefix":"10.3389","volume":"16","author":[{"given":"Jiaxun","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongcan","family":"Mo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luyu","family":"Lv","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuling","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binyan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunjuan","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenpeng","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liping","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Man","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,5,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0105-2896.2005.00230.x","article-title":"Molecular and cellular pathogenesis of X-linked lymphoproliferative disease","volume":"203","author":"Nichols","year":"2005","journal-title":"Immunol Rev"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.00666","article-title":"X-linked lymphoproliferative disease type 1: A clinical and molecular perspective","author":"Panchal","year":"2018","journal-title":"Front Immunol"},{"key":"B3","article-title":"Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome","volume":"109","author":"Loeffel","year":"1985","journal-title":"Arch Pathol Lab Med"},{"key":"B4","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1182\/blood.v97.1.95","article-title":"Lymphocytic vasculitis in X-linked lymphoproliferative disease","volume":"97","author":"Dutz","year":"2001","journal-title":"Blood"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22185","article-title":"Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection","volume":"53","author":"Talaat","year":"2009","journal-title":"Pediatr Blood Cancer"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.3760\/cma.J.iSSN.0578-1310.2017.05.014","article-title":"A two-family study of X-linked lymphocytic dysplasia type 1 with gamma globulin deficiency as the prominent manifestation","volume":"55","author":"Li","year":"2017","journal-title":"Chin J Pediatr"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn112140-20200710-00715","article-title":"A case of X-linked lymphoproliferative disorder complicated with cerebral vasculitis","volume":"59","author":"Liu","year":"2021","journal-title":"Chin J Pediatr"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-5949.2011.00292.x","article-title":"Classifying ischemic stroke, from TOAST to CISS","volume":"18","author":"Chen","year":"2012","journal-title":"CNS Neurosci Ther"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1747-4949.2007.00134.x","article-title":"Imaging of cerebral vasculitis","volume":"2","author":"K\u00fcker","year":"2007","journal-title":"Int J Stroke"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2024.1381472","article-title":"Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease","volume":"15","author":"Li","year":"2024","journal-title":"Front Immunol"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa265","article-title":"Diagnostic challenges in chronic inflammatory demyelinating polyradiculoneuropathy","volume":"143","author":"Eftimov","year":"2020","journal-title":"Brain"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12455","article-title":"European Academy of Neurology\/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision","volume":"26","author":"Bergh","year":"2021","journal-title":"J Peripher Nerv Syst"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2019.01740","article-title":"Current flow cytometric assays for the screening and diagnosis of primary HLH","volume":"10","author":"Chiang","year":"2019","journal-title":"Front Immunol"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-017-0439-4","article-title":"How to treat involvement of the central nervous system in hemophagocytic lymphohistiocytosis","volume":"19","author":"Horne","year":"2017","journal-title":"Curr Treat Options Neurol"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000622","article-title":"Multiple sclerosis: clinical aspects","volume":"31","author":"Oh","year":"2018","journal-title":"Curr Opin Neurol"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2025.1580909\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T06:11:47Z","timestamp":1748585507000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2025.1580909\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,30]]},"references-count":15,"alternative-id":["10.3389\/fimmu.2025.1580909"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2025.1580909","relation":{},"ISSN":["1664-3224"],"issn-type":[{"type":"electronic","value":"1664-3224"}],"subject":[],"published":{"date-parts":[[2025,5,30]]},"article-number":"1580909"}}