Research & Literature

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.

Tesi B, Chiang SC, El-Ghoneimy D, et al.

Pediatric blood & cancer 2015; (62(12)):2094-100 doi:10.1002/pbc.25646.

Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis.

Iwatani S, Uemura K, Mizobuchi M, et al.

AJP reports 2015; (5(1)):e22-4 doi:10.1055/s-0034-1544110.

Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations.

Abdalgani M, Filipovich AH, Choo S, et al.

Blood 2015; (126(15)):1858-60 doi:10.1182/blood-2015-06-648659.

Familial Hemophagocytic Lymphohistiocytosis.

Degar B

Hematology/oncology clinics of North America 2015; (29(5)):903-13.

ST2 contributes to T-cell hyperactivation and fatal hemophagocytic lymphohistiocytosis in mice.

Rood JE, Rao S, Paessler M, et al.

Blood 2016; (127(4)):426-35 doi:10.1182/blood-2015-07-659813.

Munc18-2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T-Lymphocytes.

Dieckmann NM, Hackmann Y, Aricò M, Griffiths GM

Traffic (Copenhagen, Denmark) 2015; (16(12)):1330-41 doi:10.1111/tra.12337.

Extreme Hypertriglyceridemia in an Infant with Hemophagocytic Lymphohistiocytosis and Hydroxycobalamin Deficiency.

Dokmanović L, Krstovski N, Lazić J, et al.

Srpski arhiv za celokupno lekarstvo 2015; (143(11-12)):744-7 doi:10.2298/sarh1512744d.

Weathering a Cytokine Storm: A Case of EBV-Induced Hemophagocytic Lymphohistiocytosis.

Shaw TY, Schivo M

Journal of investigative medicine high impact case reports 2016; (4(2)):2324709616647409 doi:10.1177/2324709616647409.

Successful haploidentical stem cell transplantation for three adults with primary hemophagocytic lymphohistiocytosis.

Li Z, Wang Y, Wang J, et al.

Bone marrow transplantation 2017; (52(2)):330-333 doi:10.1038/bmt.2016.284.

Gene-corrected human Munc13-4-deficient CD8+ T cells can efficiently restrict EBV-driven lymphoproliferation in immunodeficient mice.

Soheili T, Rivière J, Ricciardelli I, et al.

Blood 2016; (128(24)):2859-2862 doi:10.1182/blood-2016-07-729871.

SM protein Munc18-2 facilitates transition of Syntaxin 11-mediated lipid mixing to complete fusion for T-lymphocyte cytotoxicity.

Spessott WA, Sanmillan ML, McCormick ME, et al.

Proceedings of the National Academy of Sciences of the United States of America 2017; (114(11)):E2176-E2185 doi:10.1073/pnas.1617981114.

Similar but not the same: Differential diagnosis of HLH and sepsis.

Machowicz R, Janka G, Wiktor-Jedrzejczak W

Critical reviews in oncology/hematology 2017; (114()):1-12 doi:10.1016/j.critrevonc.2017.03.023.

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct.

Ciraci S, Ozcan A, Ozdemir MM, et al.

Journal of pediatric hematology/oncology 2017; (39(6)):e321-e324 doi:10.1097/MPH.0000000000000886.

Hemophagocytic Lymphohistiocytosis.

Al-Samkari H, Berliner N

Annual review of pathology 2018; (13()):27-49 doi:10.1146/annurev-pathol-020117-043625.

Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.

Bergsten E, Horne A, Aricó M, et al.

Blood 2017; (130(25)):2728-2738 doi:10.1182/blood-2017-06-788349.

Successful correction of familial hemophagocytic lymphohistiocytosis using prenatal genetic testing and preemptive hematopoietic stem cell transplantation.

Michniacki TF, Mulcahy Levy JM, Quinones RR, Giller RH

Bone marrow transplantation 2018; (53(2)):223-224 doi:10.1038/bmt.2017.219.

The clinical and laboratory evaluation of familial hemophagocytic lymphohistiocytosis and the importance of hepatic and spinal cord involvement: a single center experience.

Beken B, Aytac S, Balta G, et al.

Haematologica 2018; (103(2)):231-236 doi:10.3324/haematol.2017.178038.

Hypofibrinogenemia Is Associated With Poor Outcome and Secondary Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in Pediatric Severe Sepsis.

Signoff JK, Fitzgerald JC, Teachey DT, et al.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2018; (19(5)):397-405 doi:10.1097/PCC.0000000000001507.

Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5.

Bezdjian A, Bruijnzeel H, Pagel J, et al.

The Annals of otology, rhinology, and laryngology 2018; (127(6)):409-413 doi:10.1177/0003489418771714.

Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.

Lucchini G, Marsh R, Gilmour K, et al.

Blood 2018; (132(19)):2088-2096 doi:10.1182/blood-2018-01-827485.

Neurological Abnormality Could be the First and Only Symptom of Familial Hemophagocytic Lymphohistiocytosis: Report of Two Families.

Zhao YZ, Cheng H, Ding CH, et al.

Chinese medical journal 2018; (131(24)):3004-3006 doi:10.4103/0366-6999.247206.

Treatment of refractory hemophagocytic lymphohistiocytosis with emapalumab despite severe concurrent infections.

Lounder DT, Bin Q, de Min C, Jordan MB

Blood advances 2019; (3(1)):47-50 doi:10.1182/bloodadvances.2018025858.

Emapalumab: First Global Approval.

Al-Salama ZT

Drugs 2019; (79(1)):99-103 doi:10.1007/s40265-018-1046-8.

Epstein-Barr Virus-Associated T and NK-Cell Lymphoproliferative Diseases.

Kim WY, Montes-Mojarro IA, Fend F, Quintanilla-Martinez L

Frontiers in pediatrics 2019; (7()):71 doi:10.3389/fped.2019.00071.

Familial hemophagocytic lymphohistiocytosis in a girl with a novel homozygous mutation of STX11: A case report.

Guo X, Jiang M, Tang X, Li Q

Medicine 2019; (98(48)):e18107 doi:10.1097/MD.0000000000018107.

Chronic Graft-Versus-Host-Disease-Related Polymyositis: a 17-Months-Old Child with a Rare and Late Complication of Haematopoietic Stem Cell Transplantation.

Chinello M, Balter R, De Bortoli M, et al.

Mediterranean journal of hematology and infectious diseases 2020; (12(1)):e2020002 doi:10.4084/MJHID.2020.002.

Reevaluating the role of ferritin in the diagnosis of adult secondary hemophagocytic lymphohistiocytosis.

Naymagon L, Tremblay D, Mascarenhas J

European journal of haematology 2020; (104(4)):344-351 doi:10.1111/ejh.13391.

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L, Padilla N, Batlle-Masó L, et al.

Frontiers in immunology 2020; (11()):107 doi:10.3389/fimmu.2020.00107.

Neurological symptoms of familial hemophagocytic lymphohistiocytosis type 2.

Wang J, Tuo H, Wu L, et al.

Journal of integrative neuroscience 2020; (19(1)):131-135 doi:10.31083/j.jin.2020.01.1250.

Hemophagocytic Lymphohistiocytosis and Graft Failure Following Unrelated Umbilical Cord Blood Transplantation in Children.

Noguchi M, Inagaki J

Journal of pediatric hematology/oncology 2020; (42(6)):e440-e444 doi:10.1097/MPH.0000000000001795.

Hemophagocytic lymphohistiocytosis: An update on pathogenesis, diagnosis, and therapy.

Griffin G, Shenoi S, Hughes GC

Best practice & research. Clinical rheumatology 2020; (34(4)):101515 doi:10.1016/j.berh.2020.101515.

Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Chinese Infant with PRF1 Homozygous Mutation: a Case Report.

Ji Q, Wang G, Xu W

Clinical laboratory 2020; (66(7)) doi:10.7754/Clin.Lab.2019.191136.

Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.

Amirifar P, Ranjouri MR, Abolhassani H, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021; (32(1)):186-197 doi:10.1111/pai.13323.

Treatment of pediatric primary hemophagocytic lymphohistiocytosis with the HLH-94/2004 regimens and hematopoietic stem cell transplantation in China.

Ma H, Zhang R, Zhang L, et al.

Annals of hematology 2020; (99(10)):2255-2263 doi:10.1007/s00277-020-04209-w.

Stem cell transplantation for children with hemophagocytic lymphohistiocytosis: results from the HLH-2004 study.

Bergsten E, Horne A, Hed Myrberg I, et al.

Blood advances 2020; (4(15)):3754-3766 doi:10.1182/bloodadvances.2020002101.

Haploidentical hematopoietic stem cell transplantation using reduced-intensity conditioning for pediatric patients with familial hemophagocytic lymphohistiocytosis.

Jia C, Wang B, Zhu G, et al.

Pediatric investigation 2018; (2(4)):216-221 doi:10.1002/ped4.12096.

Can we truly diagnose adult secondary hemophagocytic lymphohistiocytosis (HLH)? A critical review of current paradigms.

Naymagon L

Pathology, research and practice 2021; (218()):153321 doi:10.1016/j.prp.2020.153321.

Use of the JAK Inhibitor Ruxolitinib in the Treatment of Hemophagocytic Lymphohistiocytosis.

Keenan C, Nichols KE, Albeituni S

Frontiers in immunology 2021; (12()):614704 doi:10.3389/fimmu.2021.614704.

Exploring the Intersection of Isolated-CNS Hemophagocytic Lymphohistiocytosis and Pediatric Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids.

Debinski C, Goergen S, McLean C, et al.

Journal of child neurology 2021; (36(11)):935-942 doi:10.1177/08830738211009654.

Screening of hemophagocytic lymphohistiocytosis in children with severe sepsis in pediatric intensive care.

El-Sayed ZA, El-Owaidy RH, Khamis MA, Rezk AR

Science progress 2021; (104(3)):368504211044042 doi:10.1177/00368504211044042.

Consensus-Based Guidelines for the Recognition, Diagnosis, and Management of Hemophagocytic Lymphohistiocytosis in Critically Ill Children and Adults.

Hines MR, von Bahr Greenwood T, Beutel G, et al.

Critical care medicine 2022; (50(5)):860-872 doi:10.1097/CCM.0000000000005361.

Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.

Bąbol-Pokora K, Wołowiec M, Popko K, et al.

Archivum immunologiae et therapiae experimentalis 2021; (69(1)):31 doi:10.1007/s00005-021-00635-4.

Clinical significance of cerebrospinal fluid soluble CD25 in pediatric hemophagocytic lymphohistiocytosis with central nervous system involvement.

Ou W, Ma H, Wei A, et al.

Pediatric blood & cancer 2022; (69(8)):e29712 doi:10.1002/pbc.29712.

Clinical, Genetic, and Outcome Characteristics of Pediatric Patients with Primary Hemophagocytic Lymphohistiocytosis.

Nepesov S, Yaman Y, Elli M, et al.

Turkish archives of pediatrics 2022; (57(4)):398-405 doi:10.5152/TurkArchPediatr.2022.21314.

Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis.

Yoshida T, Moriya K, Oikawa K, et al.

Frontiers in pediatrics 2022; (10()):1051623 doi:10.3389/fped.2022.1051623.

Brain MRI imaging markers associated with death in children with central nervous system involvement of hemophagocytic lymphohistiocytosis.

Ma W, Zhou L, Li W, et al.

European radiology 2024; (34(2)):873-884 doi:10.1007/s00330-023-10147-8.

Real-world treatment patterns and outcomes in patients with primary hemophagocytic lymphohistiocytosis treated with emapalumab.

Chandrakasan S, Jordan MB, Baker A, et al.

Blood advances 2024; (8(9)):2248-2258 doi:10.1182/bloodadvances.2023012217.

Case report: emapalumab treatment for a pediatric Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) patient with cytokine storm enabling allogeneic hematopoietic cell transplantation.

Jia W, Chen X, Luo J, et al.

Translational pediatrics 2024; (13(4)):663-672 doi:10.21037/tp-24-72.

Every Second Patient Does Not Fully Understand Written Preprocedure Information: An Explorative Study About Functional Health Literacy.

Janmyr E, Grossmann B, Nilsson A

Journal of perianesthesia nursing : official journal of the American Society of PeriAnesthesia Nurses 2024; (39(6)):1075-1078 doi:10.1016/j.jopan.2024.02.004.

Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.

Henter JI, Sieni E, Eriksson J, et al.

Blood 2024; (144(22)):2308-2318 doi:10.1182/blood.2024025077.

History of Hemophagocytic Lymphohistiocytosis.

Janka GE

Advances in experimental medicine and biology 2024; (1448()):9-19 doi:10.1007/978-3-031-59815-9_2.

Genetics of Primary Hemophagocytic Lymphohistiocytosis.

Karageorgos S, Platt AS, Bassiri H

Advances in experimental medicine and biology 2024; (1448()):75-101 doi:10.1007/978-3-031-59815-9_7.

Biomarkers in Pediatric Hemophagocytic Lymphohistiocytosis With Central Nervous System Involvement: A Cohort Study.

Zhao Y, Ou W, Wei A, et al.

Journal of pediatric hematology/oncology 2024; (46(7)):364-372 doi:10.1097/MPH.0000000000002937.

Emapalumab therapy for hemophagocytic lymphohistiocytosis before reduced-intensity transplantation improves chimerism.

Verkamp B, Jodele S, Sabulski A, et al.

Blood 2024; (144(25)):2625-2636 doi:10.1182/blood.2024025977.

Emapalumab Treatment in Patients With Rheumatologic Disease-Associated Hemophagocytic Lymphohistiocytosis in the United States: A Retrospective Medical Chart Review Study.

Chandrakasan S, Allen CE, Bhatla D, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2025; (77(2)):226-238 doi:10.1002/art.42985.

Functional role of UNC13D in immune diseases and its therapeutic applications.

Duong VT, Lee D, Kim YH, Oh SO

Frontiers in immunology 2024; (15()):1460882 doi:10.3389/fimmu.2024.1460882.

Hemophagocytic lymphohistiocytosis in early pregnancy: A rare and fatal diagnostic challenge.

Rojas-Suarez J, Ramos M, Lazarte I, et al.

Obstetric medicine 2025; 1753495X251314168 doi:10.1177/1753495X251314168.

Efficacy and safety of ruxolitinib-based regimen in the treatment of paediatric Epstein-Barr virus-associated haemophagocytic lymphohistiocytosis.

Wang W, Zhao Y, Ge J, et al.

British journal of haematology 2025; (207(3)):902-910 doi:10.1111/bjh.20264.

The Safety and Efficacy of Ruxolitinib in an Infant With Familial Hemophagocytic Syndrome Type 3: A Bridging Therapy Toward Hematopoietic Cell Transplantation and Treatment of Post-Transplant Complications, Including Sinusoidal Obstruction Syndrome.

Takahashi K, Hirabayashi S, Ueki M, et al.

Pediatric blood & cancer 2025; (72(12)):e32073 doi:10.1002/pbc.32073.

Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.

Zhang Z, Duan H, Zhang C, et al.

Journal of inflammation research 2025; (18()):13625-13633 doi:10.2147/JIR.S543598.

Histiocyte Society blueprint for hemophagocytic lymphohistiocytosis research: deciphering underlying disease mechanisms to optimize diagnosis and therapy.

Meyer LK, Lee JC, Rocco JM, Nichols KE

Haematologica 2025; (110(11)):2572-2587 doi:10.3324/haematol.2024.286477.

Clinical and neuroimaging features of familial hemophagocytic lymphohistiocytosis.

Alkaphoury MG, Mohammad SA, Farghal NBE, et al.

Pediatric radiology 2026; (56(2)):443-454 doi:10.1007/s00247-025-06454-5.

Early-onset familial HLH due to PRF1 mutation: diagnostic and therapeutic challenges in a resource-limited setting.

Patel K, Kumar M, Paswan V, Prasad B

BMJ case reports 2025; (18(12)) doi:10.1136/bcr-2025-266676.

Proteomics Reveals Differential Diagnosis Biomarkers Between Sepsis and Hemophagocytic Syndrome.

Martin-Pestana D, Azkargorta M, Pilar-Orive FJ, et al.

Biomedicines 2025; (13(12)) doi:10.3390/biomedicines13123113.

Central nervous system involvement in pediatric hemophagocytic lymphohistiocytosis: A single-center descriptive study of clinical features, neurodiagnostic findings, and outcomes.

Nath M, Vagrecha A, Roliz AH, et al.

Clinical hematology international 2026; (8(1)):26-36 doi:10.46989/001c.155719.