SynthesisJournal of clinical immunology2020
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Synthesis in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- The neurologic face of X-linked lymphoproliferative syndrome type 1: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Diagnosis and treatment of familial hemophagocytic lymphohistiocytosis with isolated central nervous system involvement: A case report.Annals of hematology · 2026Article
- A novel XIAP variant in a patient with hydrops fetalis: HSCT and beyond?BMC pediatrics · 2026Article
- Novel CSF biomarkers for facilitating diagnosis of CNS-HLH from other neuroinflammatory disorders.Blood advances · 2026Article
- Clinical and neuroimaging features of familial hemophagocytic lymphohistiocytosis.Pediatric radiology · 2026Article
- Isolated Seizures and Speech Delay in CNS Hemophagocytic Lymphohistiocytosis.Indian journal of pediatrics · 2026Article
- Clinical, biological and cytometric characteristics of two patients with a homozygous A91VClinical & translational immunology · 2026Article
- Case Report: Munc13-4 deficiency presenting with autoimmune neuropathy years before FLH: implications for early genetic screening and HSCT timing.Frontiers in immunology · 2026Article
- Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.Blood · 2025Article
- Lymphoma-associated hemophagocytic syndrome presenting as a demyelinating disease: a case report.Acta neurologica Belgica · 2025Review
- Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.Frontiers in immunology · 2025Article
- Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy ofFrontiers in genetics · 2025Article
- Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.Journal of inflammation research · 2025Article
- The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin-Deficient Mice.European journal of immunology · 2025Article
- Treating and triggering hyperinflammation: tackling hemophagocytic lymphohistiocytosis and HLH-like syndromes in the pediatric cell therapy and critical care setting.Frontiers in oncology · 2025Review
- Chedíak-Higashi Syndrome: Hair-to-toe spectrum.Seminars in pediatric neurology · 2024Review
- Hemophagocytic lymphohistiocytosis: current treatment advances, emerging targeted therapy and underlying mechanisms.Journal of hematology & oncology · 2024Review
- Pediatric CNS-isolated hemophagocytic lymphohistiocytosis with brain hemorrhages: a case report.BMC neurology · 2024Article
- Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.International journal of hematology · 2024Article
- Teenager With Recurrent Ataxia, Ophthalmoplegia, and Encephalopathy Associated With Demyelination: From the National Multiple Sclerosis Society Case Conference ProceedingsNeurology(R) neuroimmunology & neuroinflammation · 2024Article
Corrections and comments
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Authors and funding
41 authors at 20 institutions in 14 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isolated neuroinflammatory disease has been described in case reports of familial hemophagocytic lymphohistiocytosis (FHL), but the clinical spectrum of disease manifestations, response to therapy and prognosis remain poorly defined. We combined an international survey with a literature search to identify FHL patients with (i) initial presentation with isolated neurological symptoms; (ii) absence of cytopenia and splenomegaly at presentation; and (iii) systemic HLH features no earlier than 3 months after neurological presentation. Thirty-eight (20 unreported) patients were identified with initial diagnoses including acute demyelinating encephalopathy, leukoencephalopathy, CNS vasculitis, multiple sclerosis, and encephalitis. Median age at presentation was 6.5 years, most commonly with ataxia/gait disturbance (75%) and seizures (53%). Diffuse multifocal white matter changes (79%) and cerebellar involvement (61%) were common MRI findings. CSF cell count and protein were increased in 22/29 and 15/29 patients, respectively. Fourteen patients progressed to systemic inflammatory disease fulfilling HLH-2004 criteria at a mean of 36.9 months after initial neurological presentation. Mutations were detected in PRF1 in 23 patients (61%), RAB27A in 10 (26%), UNC13D in 3 (8%), LYST in 1 (3%), and STXBP2 in 1 (3%) with a mean interval to diagnosis of 28.3 months. Among 19 patients who underwent HSCT, 11 neurologically improved, 4 were stable, one relapsed, and 3 died. Among 14 non-transplanted patients, only 3 improved or had stable disease, one relapsed, and 10 died. Isolated CNS-HLH is a rare and often overlooked cause of inflammatory brain disease. HLH-directed therapy followed by HSCT seems to improve survival and outcome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.