ArticleThe Journal of allergy and clinical immunology2018
A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
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Article in The Journal of allergy and clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18citing papers in PubMed, 1 pooled it
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.Journal of clinical immunology · 2020Pooled it
- Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico.Frontiers in immunology · 2026Article
- Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.Frontiers in immunology · 2025Article
- Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.Journal of clinical immunology · 2024Article
- Griscelli syndrome: a diagnostic challenge of a rare disease: a case report.Annals of medicine and surgery (2012) · 2024Article
- Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.Blood · 2024Article
- Cutaneous granulomas associated with rubella virus: A clinical review.Journal of the American Academy of Dermatology · 2024Review
- CD8Advances in experimental medicine and biology · 2024Review
- Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (Frontiers in immunology · 2023Article
- Approaching hemophagocytic lymphohistiocytosis.Frontiers in immunology · 2023Review
- Hemophagocytic lymphohistiocytosis in children with Griscelli syndrome type 2: genetics, laboratory findings and treatment.American journal of clinical and experimental immunology · 2023Article
- Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.Journal of clinical immunology · 2022Article
- Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.BMC pediatrics · 2021Article
- Neuroinflammation Associated With Inborn Errors of Immunity.Frontiers in immunology · 2021Review
- Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.Frontiers in immunology · 2020Article
- Insights into rheumatic diseases from next-generation sequencing.Nature reviews. Rheumatology · 2019Review
- Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.Frontiers in immunology · 2019Review
- Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.Immunological reviews · 2019Review
Corrections and comments
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Authors and funding
25 authors.
Bianca TesiChildhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden. Electronic address: Bianca.Tesi@ki.se.
Jelena RasconCenter for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania; Faculty of Medicine, Vilnius University, Vilnius, Lithuania. Electronic address: jelena.rascon@vuvl.lt.
Samuel C C ChiangCenter for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.
Birute BurnyteDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Alexandra LöfstedtChildhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Anders FasthDepartment of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
Miriam HeizmannCenter for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Faculty of Biology, University of Freiburg, Freiburg, Germany.
Sandra JuozapaiteFaculty of Medicine, Vilnius University, Vilnius, Lithuania.
Rosita KiudelieneLithuanian University of Health Sciences (LUHS), Center of Pediatric Oncology and Hematology at Pediatric Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
Egle KvedaraiteChildhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Valdone MisevicieneLUHS, Center of Chronic Respiratory Diseases in Children at Pediatric Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
Audrone MulevicieneCenter for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Martha-Lena MüllerCenter for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.
Magnus NordenskjöldClinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Reda MatuzevicieneDepartment of Physiology, Biochemistry, Microbiology and Laboratory Medicine, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Centre of Laboratory Medicine, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Ruta SamaitieneFaculty of Medicine, Vilnius University, Vilnius, Lithuania; LUHS, Neurology Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
Carsten SpeckmannCenter for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Sigita StankevicieneCenter for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania.
Vytautas ZekasFaculty of Medicine, Vilnius University, Vilnius, Lithuania.
Matthias VossCenter for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.
Stephan EhlCenter for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Nerija Vaiciene-MagistrisChild Neurology Department at Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Jan-Inge HenterChildhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Marie MeethsChildhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Yenan T BrycesonCenter for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden; Broegelmann Research Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway.
Funding
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Abstract
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Indexed as
5' Untranslated RegionsAdolescentChildFemaleHumansImmunologic Deficiency SyndromesLymphocytesLymphohistiocytosis, HemophagocyticMaleMelanocytesMutationPedigreePiebaldismPigmentationPrimary Immunodeficiency Diseasesrab27 GTP-Binding Proteins5' Untranslated RegionsRAB27A protein, humanrab27 GTP-Binding Proteins
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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.