ArticleNeurology(R) neuroimmunology & neuroinflammation2021
Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome.
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In one paragraph
Article in Neurology(R) neuroimmunology & neuroinflammation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.9field-weighted citation impact, top 8% of its field
What it found
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- Pediatric CLIPPERS: Expanding the Neuroimaging Spectrum of a Rare Steroid-Responsive Neuroinflammatory Syndrome-A Systematic Review.Brain sciences · 2026Review
- Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.Journal of clinical immunology · 2026Article
- Clinical, biological and cytometric characteristics of two patients with a homozygous A91VClinical & translational immunology · 2026Article
- Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.Blood · 2025Article
- Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.Journal of inflammation research · 2025Article
- Chedíak-Higashi Syndrome: Hair-to-toe spectrum.Seminars in pediatric neurology · 2024Review
- Erdheim-Chester Disease Masquerading as CLIPPERS.Neurology(R) neuroimmunology & neuroinflammation · 2024Article
- Familial hemophagocytic lymphohistiocytosis: from macrophage activation syndrome to CLIPPERS.Journal of neurology · 2024Article
- Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS): contemporary advances and current controversies.Journal of neurology · 2024Review
- Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children.Annals of hematology · 2024Review
- Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids triggered by Hodgkin's lymphoma: A case report and brief literature review.Clinical case reports · 2024Article
- Article
- MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis.AJNR. American journal of neuroradiology · 2021Article
- Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.Multiple sclerosis journal - experimental, translational and clinicalArticle
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 2 countries.
Guillaume TaiebFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France. taiebguillaume@gmail.com.
Elsa KaphanFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Claire DuflosFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Christine Lebrun-FrénayFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Valérie RigauFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Eric ThouvenotFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Emeline Duhin-GandFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Romain LefaucheurFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Khe Hoang-XuanFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Sarah CouletteFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Jean Christophe OualletFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Nicolas Menjot de ChampfleurFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Christine TranchantFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Capucine PicardFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Mathieu FusaroFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Fernando E SepulvedaFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Pierre LabaugeFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Geneviève de Saint BasileFrom the Department of Neurology (G.T., P.L.), CHU Montpellier, Hospital Gui de Chauliac; Pôle de Neurosciences Cliniques (E.K.), CHU Timone, Assistance Publique Hôpitaux de Marseille; Clinical Research and Epidemiology Unit (C.D.), CHU Montpellier, University Montpellier; Unité de recherche clinique côte d'azur UR2CA (URRIS) (C.L.-F.), CRCSEP Nice; Department of Pathology (V.R.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (E.T.), CHU Carémeau, Nîmes; Department of Neurology (E.D.-G.), CH Valenciennes; Department of Neurology (R.L.), Rouen University Hospital; APHP (K.H.-X.), Sorbonne Université, IHU, ICM, Department of Neurology Mazarin, Groupe Hospitalier Pitié-Salpêtrière, Paris; Department of Neurology (S.C.), CH Gonesse; Department of Neurology (J.C.O.), CHU de Bordeaux; Department of Neuroradiology (N.M.C.), CHU Montpellier, Hospital Gui de Chauliac; Department of Neurology (C.T.), CHU Strasbourg; Université de Paris (C.P., M.F., F.E.S., G.S.B.), Imagine Institute, INSERM U 1163; Centre d'Etude des Déficits Immunitaires (C.P., M.F., G.S.B.), AP-HP, Hôpital Necker-Enfants Malades, Paris; and Centre national de la recherche scientifique (CNRS) (F.E.S.), Paris, France.
Centre Hospitalier Universitaire de Bordeaux · FRAllen Institute for Brain Science · USHôpitaux Universitaires de Strasbourg · FRInstitut du Cerveau · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo determine whether adult cases of Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS) may be related to familial hemophagocytic lymphohistiocytosis (HLH) causes, we have screened patients with adult-onset CLIPPERS for mutations in primary HLH-associated genes.
methodsIn our cohort of 36 patients fulfilling the criteria for probable or definite CLIPPERS according to the CLIPPERS-2017 criteria, we conducted a first study on 12 patients who consented to genetic testing. In these 12 patients, systemic HLH criteria were searched, and genetic analysis of 8 genes involved in primary HLH was performed.
resultsFour definite and 8 probable CLIPPERS were enrolled (n = 12). Mutations involved in HLH were identified in 2 definite and 2 probable CLIPPERS (4/12). Three of them had biallelic
conclusionsIn our patients presenting with adult-onset CLIPPERS, one-third have HLH gene mutations. This genetic treatable condition should be searched in patients with CLIPPERS, especially in those presenting with atypical findings.
Indexed as
AdultAgedAged, 80 and overCentral Nervous System DiseasesCohort StudiesEncephalomyelitisFemaleHumansInflammationLymphohistiocytosis, HemophagocyticMaleMembrane ProteinsMiddle AgedMutationPerforinSyndromeMembrane ProteinsPerforinUNC13D protein, human
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