Neuroimmunology Reports最新文献_第2页

Linker for activation of T cells (LAT) mutation leading to CNS neuroimmunological disorder with treatment response to abatacept

Neuroimmunology Reports Pub Date : 2025-01-01 DOI: 10.1016/j.nerep.2025.100251

Ladan Bigdeli , Jesus R Salas , Aaren E. Kettelhut , Mohammad Shujaat , Cole A Harrington

{"title":"Linker for activation of T cells (LAT) mutation leading to CNS neuroimmunological disorder with treatment response to abatacept","authors":"Ladan Bigdeli , Jesus R Salas , Aaren E. Kettelhut , Mohammad Shujaat , Cole A Harrington","doi":"10.1016/j.nerep.2025.100251","DOIUrl":"10.1016/j.nerep.2025.100251","url":null,"abstract":"<div><h3>Background</h3><div>Linker for activation of T cells (LAT) is a scaffolding protein that couples T-cell receptors (TCRs) to downstream signaling pathways and plays a critical role in TCR-mediated signaling and thymocyte development. LAT loss-of-function mutations have been reported in severe combined immunodeficiencies (SCID). Mutations in the <em>LAT</em> gene resulting in central nervous system (CNS) disorders have not previously been reported.</div></div><div><h3>Case presentation</h3><div>We report a case of a unique and recurrent neuroinflammatory disorder in a patient with a LAT gene mutation and a prior history of immune deficiency and autoimmunity.</div></div><div><h3>Case report</h3><div>Patient with <em>LAT</em> heterozygous missense mutation presented with a CNS demyelinating inflammatory disorder with similar clinical, pathological and radiographic features to patients with heterozygous mutations in immune checkpoint inhibitor cytotoxic T-lymphocyte associated protein 4 (<em>CTLA4</em>). CNS inflammatory disorder improved with treatment with CTLA4-IgG<sub>1</sub> fusion protein abatacept. This is the first reported case of CNS inflammation associated with a <em>LAT</em> gene mutation.</div></div><div><h3>Conclusions</h3><div><em>LAT</em> and <em>CTLA4</em> mutations appear to result in overlapping phenotypes and patients with mutations in <em>LAT</em> or proteins involved in LAT signaling may exhibit similar presentations and responses to immune checkpoint inhibitors.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100251"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143350464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Erratum to “Post-COVID-19 acute disseminated encephalomyelitis: Case report and review of the literature” [Neuroimmunology Reports Volume 2, 2022, 100066]

Neuroimmunology Reports Pub Date : 2025-01-01 DOI: 10.1016/j.nerep.2024.100245

Masoud Etemadifar , Amir Reza Mansouri , Hosein Nouri , Nahad Sedaghat , Mehri Salari , Milad Maghsoudi , Narges Heydari

引用次数: 0

Exercise induced oscillatory ventilation without cardiac failure in a young woman with relapsing remitting multiple sclerosis: A case report

Neuroimmunology Reports Pub Date : 2025-01-01 DOI: 10.1016/j.nerep.2025.100246

K. Musch , S.T. Timmermans , J.G. van den Aardweg

引用次数: 0

Erratum to “Rapidly progressive dementia with recurrent seizures and hyponatremia; A case of LGI1 limbic encephalitis” [Neuroimmunology Reports Volume 2, 2022, 100048]

Neuroimmunology Reports Pub Date : 2025-01-01 DOI: 10.1016/j.nerep.2024.100242

Joshua D Luster , Ashley Barasa , William Hoffman

引用次数: 0

Brazilian perspectives on neurosarcoidosis broad spectrum

Neuroimmunology Reports Pub Date : 2025-01-01 DOI: 10.1016/j.nerep.2025.100249

Carolina B. Moura , Flávia Aguiar Machado , Johnatan Felipe Ferreira da Conceição , Isadora Gomes Mesquita , Rafael Santos Correia , Rodrigo Cutrim Gaudio , Melina da Silva Bernardes , Lucas F B Horta , Caroline Bittar-Braune

{"title":"Brazilian perspectives on neurosarcoidosis broad spectrum","authors":"Carolina B. Moura , Flávia Aguiar Machado , Johnatan Felipe Ferreira da Conceição , Isadora Gomes Mesquita , Rafael Santos Correia , Rodrigo Cutrim Gaudio , Melina da Silva Bernardes , Lucas F B Horta , Caroline Bittar-Braune","doi":"10.1016/j.nerep.2025.100249","DOIUrl":"10.1016/j.nerep.2025.100249","url":null,"abstract":"<div><h3>Background</h3><div>Neurosarcoidosis (NS) is a rare form of sarcoidosis, characterized by a wide range of neurological presentations due to granulomatous inflammation affecting different areas of the nervous system. The prevalence of NS in Brazil is not well-documented, suggesting a risk of underdiagnosis in this region.</div></div><div><h3>Case Series</h3><div>This study examines a series of five patients from Brazil with biopsy-confirmed systemic sarcoidosis and probable NS. Neurological manifestations varied widely, including longitudinally extensive myelitis, myopathy, cerebellar involvement, orbital apex syndrome, and multiple cranial neuropathies. NS was the initial presentation of sarcoidosis in most cases. Diagnoses were confirmed through a detailed assessment of clinical, radiological, laboratory, and pathological findings, following established NS diagnostic criteria. Each patient underwent MRI, cerebrospinal fluid analysis, and systemic evaluations, with systemic sarcoidosis confirmed by biopsy. Treatment primarily involved corticosteroids, with some patients requiring additional immunosuppressive therapy, resulting in favorable outcomes.</div></div><div><h3>Conclusions</h3><div>This case series highlights the diagnostic challenges of NS, particularly in Brazil, where awareness may be limited. Neurologists should consider NS in cases of unexplained neurological symptoms accompanied by systemic signs. Prompt diagnosis and treatment are essential to improve patient outcomes in this potentially debilitating condition.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100249"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Autoimmune demyelinating central nervous system disease in young male with persistently positive fluorescent treponemal antibody absorption test: A case report 自身免疫性脱髓鞘中枢神经系统疾病的年轻男性持续阳性荧光螺旋体抗体吸收试验：1例报告

Neuroimmunology Reports Pub Date : 2024-12-01 DOI: 10.1016/j.nerep.2024.100233

Mario B Prado , Karen Joy Adiao

引用次数: 0

Guillain-Barré syndrome associated with COVID-19 infection: A case series 与COVID-19感染相关的格林-巴利综合征：病例系列

Neuroimmunology Reports Pub Date : 2024-11-13 DOI: 10.1016/j.nerep.2024.100231

João Hugo Abdalla Santos , Ligia Fernandes Abdalla , Luana Catarina Marinho Serruya , Wolfgang Lucas Silva de Paula , Felipe Gomes Naveca

引用次数: 0

Brain leptomeningeal enhancement and cranial nerve enhancement in a pediatric-onset multiple sclerosis patient during fingolimod rebound: A case report 一名儿科多发性硬化症患者在芬戈莫德反弹期间出现脑膜强化和颅神经强化：病例报告

Neuroimmunology Reports Pub Date : 2024-11-01 DOI: 10.1016/j.nerep.2024.100232

Nikoloz Karazanashvili , Monica M. Diaz , Jorge L. Almodovar , Bushra Javed , Stephanie Iyer , Irena Dujmovic Basuroski

{"title":"Brain leptomeningeal enhancement and cranial nerve enhancement in a pediatric-onset multiple sclerosis patient during fingolimod rebound: A case report","authors":"Nikoloz Karazanashvili , Monica M. Diaz , Jorge L. Almodovar , Bushra Javed , Stephanie Iyer , Irena Dujmovic Basuroski","doi":"10.1016/j.nerep.2024.100232","DOIUrl":"10.1016/j.nerep.2024.100232","url":null,"abstract":"<div><div>We report a case of leptomeningeal and trigeminal nerve enhancement in an African American male patient with pediatric onset (age 17) relapsing-remitting multiple sclerosis (MS) during fingolimod rebound. The patient was clinically and radiologically stable while on fingolimod for 3.5 years, but developed disease rebound following fingolimod self-discontinuation. During this episode, several new T2/fluid-attenuated inversion recovery (FLAIR) lesions, enlarging T2/FLAIR lesions and contrast-enhancing lesions in the brain (supratentorial, cerebellum, brainstem) and spinal cord, enhancement of both trigeminal nerves and mild leptomeningeal enhancement (LME) around the brainstem were seen on brain magnetic resonance imaging (MRI). LME or cranial nerve enhancement (CNE) were not present on prior MRI studies, or on MRI studies performed after the patient recovered from fingolimod rebound. LME and CNE in MS may occur during rebound MS activity following fingolimod discontinuation as a transient phenomenon.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"6 ","pages":"Article 100232"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142593072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transiently elevated anti-CRMP-5 autoantibodies in two patients with myelitis without underlying malignancy 两名无恶性肿瘤基础的脊髓炎患者体内一过性升高的抗CRMP-5自身抗体

Neuroimmunology Reports Pub Date : 2024-10-30 DOI: 10.1016/j.nerep.2024.100229

Kennan Negrete , Zeinab Awada , Asaff Harel , Ilya Kister

{"title":"Transiently elevated anti-CRMP-5 autoantibodies in two patients with myelitis without underlying malignancy","authors":"Kennan Negrete , Zeinab Awada , Asaff Harel , Ilya Kister","doi":"10.1016/j.nerep.2024.100229","DOIUrl":"10.1016/j.nerep.2024.100229","url":null,"abstract":"<div><h3>Introduction</h3><div>Collapsin response-mediator protein 5 (CRMP-5) is a cytoplasmic regulator of neurite outgrowth. Antibodies against CRMP-5 are associated with various neurologic diseases, including myelitis. Underlying malignancy is present in 70 – 90 % of patients with CRMP-5 autoimmunity. We present two patients with myelitis and transiently elevated anti-CRMP-5 without evidence of malignancy and discuss the relevance of the antibody in these cases.</div></div><div><h3>Case Report</h3><div>1. A 44-year-old male presented with symptoms of subacute thoracic myelitis and was found to have a persistently enhancing cord lesion on MRI. Serum anti-CRMP-5 antibody levels were initially elevated but absent on subsequent testing. Three whole-body PET scans during a three-year follow-up failed to uncover a malignancy. Neurologic condition improved on steroids. 2. A 65-year-old female presented with symptoms of a cervical myelitis followed by left facial weakness. MRI demonstrated multiple brain and spinal cord lesions as well as evidence of cranial neuritis, which persisted despite pulse steroid courses. Elevated serum anti-CRMP-5 was noted nine months after symptom onset. Malignancy workup failed to identify neoplasm and anti-CRMP-5 level subsequently seroreverted. Clinical and radiographic improvement occurred over several years of follow-up.</div></div><div><h3>Conclusion</h3><div>CRMP-5 autoantibody is a marker for paraneoplastic autoimmune neurologic syndromes. However, these two cases illustrate the uncertainty regarding its significance, as anti-CRMP-5 was only transiently elevated and not associated with an underlying malignancy. The possibilities that anti-CRMP-5 autoantibodies were an incidental or false-positive finding are discussed.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"6 ","pages":"Article 100229"},"PeriodicalIF":0.0,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142539516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cardiac events in the setting of ofatumumab treatment: An association or A Co-incidence? 使用伊妥单抗治疗时的心脏事件：关联还是巧合？

Neuroimmunology Reports Pub Date : 2024-10-14 DOI: 10.1016/j.nerep.2024.100228

Hamna Khan , Michelle Maynard , Ahmed Z. Obeidat

引用次数: 0