Article
Immunology
Stephanie J. Si, Sarah K. Tasian, Hamid Bassiri, Brian T. Fisher, Jasmyn Atalla, Reema Patel, Neil Romberg, Michele P. Lambert, Michele Paessler, Edward J. Behrens, David T. Teachey, Kathleen E. Sullivan
Summary: HLH is a syndrome of severe immune dysregulation with a complex diagnosis process, leading to potential delays in treatment initiation.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Review
Pediatrics
Shinsaku Imashuku, Akira Morimoto, Eiichi Ishii
Summary: HLH can be categorized as primary and secondary, with viral HLH being the major type across all age groups. Different types of HLH require specific treatment strategies, such as using immunomodulatory agents for EBV-HLH and more aggressive therapies for refractory cases.
Review
Immunology
Aurora Chinnici, Linda Beneforti, Francesco Pegoraro, Irene Trambusti, Annalisa Tondo, Claudio Favre, Maria Luisa Coniglio, Elena Sieni
Summary: Hemophagocytic Lymphohistiocytosis (HLH) is a rare clinical condition characterized by sustained but ineffective immune system activation, leading to severe and systemic hyperinflammation. Prompt diagnosis and treatment are crucial for survival, as a considerable proportion of patients with HLH still die from progressive disease. Expert consultation and genetic analysis are recommended for accurate interpretation and therapeutic decisions.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Medicine, Research & Experimental
Chiara Benevenuta, Ilaria Mussinatto, Cecilia Orsi, Fabio S. S. Timeus
Summary: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by uncontrolled and ineffective immune response, leading to hyperinflammation. This review focuses on secondary HLH in pediatric patients, discussing its epidemiology, pathophysiology, diagnosis, treatment, prognosis, as well as subtypes and new insights in diagnosis and treatment.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2023)
Article
Immunology
Hanan F. Nazir, Nehad Hassanein, Yasser Wali, Laila S. Al Yazidi
Summary: This study retrospectively assessed the epidemiology, clinical features, and outcome of viral-associated hemophagocytic lymphohistiocytosis (HLH) in children in Oman. The results showed that viral-associated HLH was more frequently encountered in children with genetic predisposition to HLH or underlying immunodeficiency. Most children had full recovery after treatment.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2022)
Review
Medical Laboratory Technology
Tanya Sajan Ponnatt, Cullen M. Lilley, Kamran M. Mirza
Summary: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disorder of immune regulation that requires rapid diagnosis and aggressive management. Understanding the pathogenesis and early diagnosis of HLH plays a crucial role in determining patient outcome. HLH can be caused by genetic mutations or acquired factors, and proper management is essential for improving prognosis.
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
(2022)
Article
Infectious Diseases
Chakrapani Mahabala, Vivek K. Koushik, Poornima A. Manjrekar, Prashantha Balanthimogru
Summary: This study found that sIL-2R could be a useful biomarker for differentiating dengue fever patients who are likely to progress to HLH. Compared to other markers, sIL-2R showed a stronger correlation with HLH and had higher sensitivity and specificity.
Review
Immunology
Erica A. Steen, Kim E. Nichols, Lauren K. Meyer
Summary: Familial hemophagocytic lymphohistiocytosis (fHLH) is a group of rare inherited immune dysregulation disorders characterized by mutations in genes involved in cytotoxic granules in CD8+ T cells and NK cells. This defect leads to sustained lymphocyte activation and excessive secretion of pro-inflammatory cytokines, resulting in tissue damage and multi-organ failure. Studies in murine models have provided insights into the mechanisms underlying hyperinflammation in fHLH.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Hematology
Qunxiang Qiu, Dan Li, Ying Chen, Ying Song, Shifeng Lou, Kang Zhou, Jianchuan Deng
Summary: We analyzed the clinical features and prognostic risk factors of adult HLH and developed a prognostic model to predict the overall survival of adult HLH. IL-10 and PT were identified as independent factors affecting the survival rate. A prognostic model consisting of IL-2R, PT, and IL-10 was developed, which showed high prediction accuracy for 1-year, 2-year, and 3-year survival rates.
ANNALS OF HEMATOLOGY
(2023)
Article
Immunology
Kristina E. N. Clark, William D. Nevin, Tabitha Mahungu, Helen Lachmann, Animesh Singh
Summary: This study found similarities in the clinical manifestations and molecular inflammatory responses between COVID-19 patients and HLH patients, but did not support the use of HLH risk-scoring methodology for risk stratification in COVID-19 patients.
CLINICAL INFECTIOUS DISEASES
(2021)
Article
Pediatrics
Niveditha Balakumar, Prithvi Sendi, Balagangadhar R. Totapally
Summary: This study describes the prevalence, clinical characteristics, interventions, and outcomes of neonates diagnosed with hemophagocytic lymphohistiocytosis (HLH) in the United States. It found that HLH is a rare diagnosis with a high mortality rate in neonates. Herpes simplex virus is the most common infection associated with neonatal HLH, and HLH should be considered in neonates presenting with multi-organ dysfunction or sepsis.
FRONTIERS IN PEDIATRICS
(2022)
Review
Pathology
Leonard Naymagon
Summary: Originally designed for pediatric HLH, the HLH-2004 criteria have been used to diagnose adult secondary HLH, raising questions about their applicability. Current evidence is lacking on the use of these criteria in adult secondary HLH cases.
PATHOLOGY RESEARCH AND PRACTICE
(2021)
Article
Medicine, General & Internal
Thomas El Jammal, Arthur Guerber, Martin Prodel, Maxime Fauter, Pascal Seve, Yvan Jamilloux
Summary: This study proposes a machine learning approach to build a classification model for HLH in a cohort of patients selected by glycosylated ferritin dosage in a tertiary center in Lyon, France. The model showed good diagnostic performances on a dataset of 207 adult patients, but further studies are needed to improve its performance.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medical Laboratory Technology
Zhili Jin, Dina Suolitiken, Yini Wang, Zhao Wang
Summary: This study suggests that multiple cytokines can serve as valid biological markers for the diagnosis of HLH, with IL-18, IL-1 RA, and IP-10 showing high diagnostic accuracy. Further validation in external datasets is warranted.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Review
Hematology
Chenzi Zhao, Qing Zhang, Rui Zhang, Hongyun Lian, Honghao Ma, Xiaoxi Zhao, Zhigang Li
Summary: This study analyzed the genetic variation and prognosis of primary hemophagocytic lymphohistiocytosis (pHLH) in children and the clinical features of isolated central nervous system HLH (CNS-HLH). The most common gene variants in pHLH patients were UNC13D, PRF1, and XIAP. CNS involvement was higher in pHLH patients compared to secondary HLH. Isolated CNS-HLH patients are often misdiagnosed, and hematopoietic stem cell transplantation (HSCT) may be beneficial for these patients. NK cell cytotoxicity and CD107a levels were not accurate in distinguishing pHLH from secondary HLH.
ANNALS OF HEMATOLOGY
(2023)
Article
Oncology
Leomar Y. Ballester, Miguel D. Cantu, Karen P. H. Lim, Stephen F. Sarabia, Lizmery Suarez Ferguson, C. Renee Webb, Carl E. Allen, Kenneth L. McClain, Carrie A. Mohila, Jyotinder N. Punia, Angshumoy Roy, Dolores H. Lopez-Terrada, M. John Hicks, Kevin E. Fisher
HEMATOLOGICAL ONCOLOGY
(2018)
Article
Peripheral Vascular Disease
Cecilia Higgs, Yanick J. Crow, Denise M. Adams, Emmanuel Chang, Don Hayes, Utz Herbig, James N. Huang, Ryan Himes, Kunal Jajoo, F. Brad Johnson, Susan D. Reynolds, Yoshihiro Yonekawa, Mary Armanios, Farid Boulad, Courtney D. DiNardo, Carlo Dufour, Frederick D. Goldman, Shakila Khan, Christian Kratz, Kasiani C. Myers, Ganesh Raghu, Blanche P. Alter, Geraldine Aubert, Sonia Bhala, Edward W. Cowen, Yigal Dror, Mounif El-Youssef, Bruce Friedman, Neelam Giri, Lisa Helms Guba, Payal P. Khincha, Tiffany F. Lin, Hilary Longhurst, Lisa J. McReynolds, Adam Nelson, Tim Olson, Anne Pariser, Rosario Perona, Ghadir Sasa, Kristen Schratz, Douglas A. Simonetto, Danielle Townsley, Michael Walsh, Katherine Stevens, Suneet Agarwal, Alison A. Bertuch, Sharon A. Savage
Article
Biophysics
Tal Schechter, Evelio Perez-Albuerne, Tiffany F. Lin, Meredith S. Irwin, Mohammed Essa, Ami V. Desai, Haydar Frangoul, Gregory Yanik, L. Lee Dupuis, David Jacobsohn, Morris Kletzel, Mark Ranalli, Sandeep Soni, Alix E. Seif, Stephan Grupp, Christopher C. Dvorak
BONE MARROW TRANSPLANTATION
(2020)
Article
Oncology
Amy M. Coffey, Annisa Lewis, Andrea N. Marcogliese, M. Tarek Elghetany, Jyotinder N. Punia, Chung-Che Chang, Carl E. Allen, Kenneth L. McClain, Amos S. Gaikwad, Nader Kim El-Mallawany, Choladda Curry
PEDIATRIC BLOOD & CANCER
(2019)
Editorial Material
Hematology
Nader Kim El-Mallawany, Kenneth L. McClain
Article
Oncology
Tiffany L. Lucas, Rachel Mustain, Robert E. Goldsby
PEDIATRIC BLOOD & CANCER
(2020)
Editorial Material
Oncology
Kenneth L. McClain
PEDIATRIC BLOOD & CANCER
(2020)
Article
Hematology
Elisabet Bergsten, AnnaCarin Horne, Ida Hed Myrberg, Maurizio Arico, Itziar Astigarraga, Eiichi Ishii, Gritta Janka, Stephan Ladisch, Kai Lehmberg, Kenneth L. McClain, Milen Minkov, Vasanta Nanduri, Diego A. Rosso, Elena Sieni, Jacek Winiarski, Jan-Inge Henter
Editorial Material
Hematology
Kenneth L. McClain, Nitya Gulati
Editorial Material
Hematology
Kenneth L. McClain, Rikhia Chakraborty
Summary: The study utilized immunophenotyping and single-cell RNA sequencing to identify differentially expressed genes in various populations of circulating mononuclear cells from pediatric patients with Langerhans cell histiocytosis (LCH), providing crucial insights into the pathogenesis of LCH.
Article
Medicine, General & Internal
Kenneth L. McClain, Camille Bigenwald, Matthew Collin, Julien Haroche, Rebecca A. Marsh, Miriam Merad, Jennifer Picarsic, Karina B. Ribeiro, Carl E. Allen
Summary: Histiocytic disorders represent a group of diseases characterized by pathogenic myeloid cells with histological features similar to macrophages or dendritic cells. The diseases within this group, such as LCH, ECD, JXG, and RDD, are driven by activating mutations in the MAPK pathway. While these diseases share some malignant cell features, they are not hyperproliferative like cancer. Haemophagocytic lymphohistiocytosis, on the other hand, is associated with extreme inflammation and macrophage activation, representing a syndrome of immune dysregulation. These diseases can affect individuals of all ages with varying clinical manifestations depending on the specific disease.
NATURE REVIEWS DISEASE PRIMERS
(2021)
Article
Clinical Neurology
B. L. Serrallach, S. F. Kralik, B. H. Tran, T. A. G. M. Huisman, R. P. Patel, C. E. Allen, K. L. McClain, N. Gulati, C. Q. Dillard-Ilboudo, M. J. Hicks, C. A. Mohila, N. K. Desai
Summary: Juvenile xanthogranuloma is a rare disorder characterized by skin papules/nodules. A small subset of patients may have CNS involvement. This study evaluated the neuroimaging findings of 14 pediatric patients with CNS juvenile xanthogranuloma. The findings showed that the lesions appeared in various locations and patterns, with iso- or hyperintense signal and avid contrast enhancement.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2022)
Article
Health Care Sciences & Services
Tania C. Vasquez-Loarte, Tiffany Lin Lucas, Julie Harris-Wai, Deborah J. Bowen
PATIENT-PATIENT CENTERED OUTCOMES RESEARCH
(2020)
Article
Hematology
Rosemarie Mastropolo, Allison Close, Steven W. Allen, Kenneth L. McClain, Scott Maurer, Jennifer Picarsic
Article
Public, Environmental & Occupational Health
Tiffany F. Lin, James N. Huang, Haley L. Cash
MATERNAL AND CHILD HEALTH JOURNAL
(2019)
