ArticleNeurology(R) neuroimmunology & neuroinflammation2019
Pediatric CNS-isolated hemophagocytic lymphohistiocytosis.
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In one paragraph
Article in Neurology(R) neuroimmunology & neuroinflammation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
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43citing papers in PubMed, 4 pooled it
6.7field-weighted citation impact, top 3% of its field
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Who cites it
43 citing papers in PubMed, 4 syntheses or guidelines pooled it, 89 citations in OpenAlex.
- The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS).Annals of the rheumatic diseases · 2023Pooled it
- The 2022 EULAR/ACR Points to Consider at the Early Stages of Diagnosis and Management of Suspected Haemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS).Arthritis & rheumatology (Hoboken, N.J.) · 2023Pooled it
- Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.Journal of clinical immunology · 2020Pooled it
- Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO).Pediatric blood & cancer · 2019Guideline
- CNS-Isolated Familial Hemophagocytic Lymphohistiocytosis Masquerading as Pediatric MOGAD-ADEM: A Diagnostic Challenge.Indian journal of pediatrics · 2026Article
- Diagnosis and treatment of familial hemophagocytic lymphohistiocytosis with isolated central nervous system involvement: A case report.Annals of hematology · 2026Article
- Complexities in the Diagnostic Evaluation and Treatment of Infant Hemophagocytic Lymphohistiocytosis.Hematology reports · 2026Article
- Subtle Signals of Severe Disease: Central Nervous System Hemophagocytic Lymphohistiocytosis.Annals of Indian Academy of Neurology · 2026Article
- Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.Journal of clinical immunology · 2026Article
- Novel CSF biomarkers for facilitating diagnosis of CNS-HLH from other neuroinflammatory disorders.Blood advances · 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
- Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape.Neurology. Genetics · 2025Review
- Prognostic scoring model incorporating clinical characteristics for pediatric hemophagocytic lymphohistiocytosis: a multicenter retrospective study.Annals of hematology · 2025Article
- Article
- Adult Hemophagocytic Lymphohistiocytosis (HLH) with Neurological Involvement: Diagnostic Complexities - A Case Report and Literature Review.The American journal of case reports · 2025Review
- Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.Journal of inflammation research · 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
- Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy ofFrontiers in genetics · 2025Article
- Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge.Cureus · 2024Article
- Chedíak-Higashi Syndrome: Hair-to-toe spectrum.Seminars in pediatric neurology · 2024Review
Corrections and comments
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Authors and funding
20 authors at 3 institutions in 1 country.
Leslie A BensonDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Hojun LiDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Lauren A HendersonDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Isaac H SolomonDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Ariane SoldatosDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Jennifer MurphyDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Bibiana BielekovaDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Alyssa L KennedyDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Michael J RivkinDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Kimberly J DaviesDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Amy P HsuDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Steven M HollandDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
William A GahlDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Robert P SundelDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Leslie E LehmannDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Michelle A LeeDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Sanda AlexandrescuDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Barbara A DegarDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Christine N DuncanDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
Mark P GormanDepartment of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
National Institute of Allergy and Infectious Diseases · USBoston Children's Hospital · USNational Human Genome Research Institute · US
Funding
NHGRI/DIR Clinical Support ServicesZIDHG200352 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SOLOMON, BENJAMIN · 2009 to 2025
$182.8MGenes And Gene Products As ImmunoadjuvantsZIAAI000647 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.6MTransgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2MComprehensive multimodal analysis of patients with neuroimmunological diseasesZIAAI001242 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI BIELEKOVA, BIBIANA · 2019 to 2025
$12.9MThe Reprogramming of Regulatory T cells to a Th17 Phenotype in Systemic Juvenile Idiopathic ArthritisK08AR073339 · NIAMS · BOSTON CHILDREN'S HOSPITAL · PI HENDERSON, LAUREN A · 2018 to 2022
$840kIntramural NIH HHS ZID HG200352NIAMS NIH HHS K08 AR073339NIAMS NIH HHS L40 AR065238
Abstract
Objective: To highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated with familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL). Methods: Retrospective chart review. Results: Patients with CNS-FHL are characterized by chronic inflammation restricted to the CNS that is not attributable to any previously described neuroinflammatory etiology and have germline mutations in known FHL-associated genes with no signs of systemic inflammation. Hematopoietic stem cell transplantation (HCT) can be well tolerated and effective in achieving or maintaining disease remission in patients with CNS-FHL. Conclusions: Early and accurate diagnosis followed by treatment with HCT can reduce morbidity and mortality in CNS-FHL, a novel, treatable syndrome. Classification of evidence: This study provides Class IV evidence that HCT is well tolerated and effective in treating CNS-FHL.
Indexed as
Central Nervous System DiseasesChildChild, PreschoolFemaleGerm-Line MutationHumansLymphohistiocytosis, Hemophagocytic
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