ArticleFrontiers in immunology2021
The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.
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Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Spectrum of Primary Hemophagocytic Lymphohistiocytosis-Associated Gene Mutations in Chinese Patients.MedComm · 2026Article
- Early management of hemophagocytic lymphohistiocytosis/macrophage activation syndrome: a systematic literature review.EULAR rheumatology open · 2026Review
- Isolated Seizures and Speech Delay in CNS Hemophagocytic Lymphohistiocytosis.Indian journal of pediatrics · 2026Article
- Partial STX11 deficiency due to a hypomorphic variant-self-limiting inflammatory disease preceding HLH onset.Journal of human immunity · 2025Article
- Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.Journal of clinical immunology · 2025Review
- Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.Journal of inflammation research · 2025Article
- Case Report: Hemophagocytic lymphohistiocytosis associated with NBAS gene variant and Epstein-Barr virus (EBV) infection.Frontiers in pediatrics · 2025Article
- Article
- Hemophagocytic lymphohistiocytosis and macrophage activation syndrome: two rare sides of the same devastating coin.Advances in rheumatology (London, England) · 2024Review
- Functional role of UNC13D in immune diseases and its therapeutic applications.Frontiers in immunology · 2024Review
- Repeated pulmonary nodules as the primary symptom of familial hemophagocytic lymphohistiocytosis in adults: a case report and review.The Journal of international medical research · 2023Article
- [Clinical characteristics of primary hemophagocytic lymphohistiocytosis associated with perforin gene deficiency: a single-center retrospective study].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2023Article
- Review
- RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.Pharmacogenomics and personalized medicine · 2021Article
- Utility ofIndian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaArticle
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Authors and funding
46 authors at 17 institutions in 1 country.
Snehal ShabrishDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Madhura KelkarDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Reetika Malik YadavDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Umair Ahmed BargirDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Maya GuptaDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Aparna DalviDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Jahnavi AluriDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Manasi KulkarniDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Shweta ShindeDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Sneha Sawant-DesaiDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Priyanka KambliDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Gouri HuleDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Priyanka SetiaDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Neha JodhawatDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Pallavi GaikwadDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Amruta DhawaleDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Nayana NambiarDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Vijaya GowriDepartment of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
Ambreen PandrowalaDepartment of Bone Marrow Transplant, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
Prasad TaurDepartment of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
Revathi RajDepartment of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, Chennai, India.
Ramya UppuluriDepartment of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, Chennai, India.
Ratna SharmaComprehensive Thalassemia Care, Pediatric Hematology-Oncology & Bone Marrow Transplantation Centre, Mumbai, India.
Pranoti KiniComprehensive Thalassemia Care, Pediatric Hematology-Oncology & Bone Marrow Transplantation Centre, Mumbai, India.
Meena SivasankaranDepartment of Pediatric Hemato-Oncology, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India.
Deenadayalan MunirathnamDepartment of Pediatric Hemato-Oncology, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India.
Ramprasad VedamMedgenome Labs Pvt Ltd., Narayana Health City, Bommasandra, India.
Pandiarajan VigneshDepartment of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Aaqib BandayDepartment of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Amit RawatDepartment of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Amita AggarwalDepartment of Clinical Immunology and Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Ujjal PoddarDepartment of Clinical Immunology and Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Meenakshi GirishDepartment of Pediatrics, All India Institute of Medical Sciences, Nagpur, India.
Abhijit ChaudharyDepartment of Pediatrics, All India Institute of Medical Sciences, Nagpur, India.
Abhilasha SampagarKAHER'S Jawaharlal Nehru Medical College, Belagavi, India.
Dharani JayaramanDepartment of Pediatrics, Sri Ramchandra Institute of Higher Education and Research, Chennai, India.
Narendra ChaudharyDepartment of Pediatrics, All India Institute of Medical Sciences, Bhopal, India.
Nitin ShahP.D. Hinduja Hospital, Mumbai, India.
Farah JijinaP.D. Hinduja Hospital, Mumbai, India.
S ChandraklaDepartment of Haematology, Seth G. S. Medical College and King Edward Memorial Hospital, Mumbai, India.
Swati KanakiaLilavati Hospital and Research Centre, Mumbai, India.
Brijesh AroraDepartment of Pediatric Oncology, Tata Memorial Hospital, Mumbai, India.
Santanu SenKokilaben Dhirubai Ambani Hospital, Mumbai, India.
Madhukar LokeshwarKashyap Nursing Home, Mumbai, India.
Mukesh DesaiDepartment of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
Manisha MadkaikarDepartment of Pediatric Immunology and Leukocyte Biology, Indian Council of Medical Research-National Institute of Immunohaematology, Mumbai, India.
Indian Council of Medical Research · INNational Institute of Immunohaematology · INBai Jerbai Wadia Hospital for Children · INPost Graduate Institute of Medical Education and Research · INAll India Institute of Medical Sciences, NagpurApollo Hospitals · INKanchi Kamakoti CHILDS Trust Hospital · INP. D. Hinduja Hospital and Medical Research Centre · INSanjay Gandhi Post Graduate Institute of Medical Sciences · INAll India Institute of Medical Sciences Bhopal · INJawaharlal Nehru Medical College · INKing Edward Memorial Hospital and Seth G.S. Medical College · INKokilaben Dhirubhai Ambani Hospital · INLilavati Hospital & Research Centre · INNarayana Health · INSri Ramachandra Institute of Higher Education and Research · INTata Memorial Hospital · IN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in
Indexed as
BiomarkersDisease SusceptibilityPhenotypeAllelesChildChild, PreschoolCombined Modality TherapyComputational BiologyDatabases, GeneticDisease ManagementFemaleGenetic Predisposition to DiseaseHumansIndiaInfantLymphohistiocytosis, HemophagocyticBiomarkersPerforindegranulationfamilial hemophagocytic lymphohistocytosisflow cytomertryHLH-targeted therapyNGSperforin
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