Article
Immunology
Deli Song, Jingshi Wang, Jia Zhang, Junxia Hu, Chaofan Wu, Zhao Wang
Summary: In this article, five cases of HAVCR2 mutation-associated HLH were reported. The study found an elevated level of IL-1RA in the serum of these patients. The potential mechanisms underlying HLH associated with HAVCR2 mutation were also investigated.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Huimin Yan, Yunjun Mo, Shilin Liu, Xiaojuan Luo, Lianlian Liu, Lintao Zhou, Xiuming Zhang, Yunsheng Chen, Ke Cao
Summary: This study reports a case of a pediatric patient infected with Talaromyces marneffei (TM), which led to the development of hemophagocytic lymphohistiocytosis (HLH) due to genetic mutations. The study highlights the importance of early identification of the causative agent and investigation of potential immunodeficiency in triggering HLH.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Immunology
Erica A. Steen, Michelle L. Hermiston, Kim E. Nichols, Lauren K. Meyer
Summary: Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory disorder caused by mutations in genes necessary for cytotoxic granule assembly and function, leading to ineffective immune responses. The resulting persistent immune system stimulation drives severe tissue inflammation and end-organ damage. Evidence supports a potential digenic mode of inheritance, where mutations in two different genes cooperate to impair pathway activity.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Pediatrics
Juhi Gupta, Prashant Jauhari, Atin Kumar, Sheffali Gulati, Biswaroop Chakrabarty, Aditya Kumar Gupta, Rachna Seth
Summary: Primary hemophagocytic lympho-histiocytosis (HLH) is a hyperinflammatory syndrome that can mimic other diseases in the central nervous system (CNS). This case report describes a 7-year-old boy who initially presented with symptoms suggestive of CNS tuberculosis and later had a diagnosis of acquired demyelination syndrome, but was ultimately found to have primary HLH. The delayed diagnosis highlights the importance of considering HLH as a possible cause of refractory demyelination.
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)
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)
Article
Immunology
Sylvain Raimbault, Guillaume Monneret, Morgane Gossez, Fabienne Venet, Alexandre Belot, Franck Zekre, Solene Remy, Etienne Javouhey
Summary: In this study, the researchers examined the use of monocyte human leucocyte antigen (mHLA)-DR as a potential diagnostic marker for secondary HLH (sHLH). They found that levels of mHLA-DR were significantly higher in patients with sHLH compared to healthy children and those with septic shock. Additionally, mHLA-DR levels decreased after treatment initiation. The findings suggest that elevated mHLA-DR could aid in the diagnosis of sHLH and distinguish it from septic shock.
FRONTIERS IN IMMUNOLOGY
(2023)
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
Oncology
Xiaoman Bi, Qing Zhang, Lei Chen, Dan Liu, Yueying Li, Xiaoxi Zhao, Ya Zhang, Liping Zhang, Jingkun Liu, Chaoyi Wu, Zhigang Li, Yunze Zhao, Honghao Ma, Gang Huang, Xin Liu, Qian-fei Wang, Rui Zhang
Summary: The study identified NBAS gene with high frequency mutation in HLH patients, indicating its potential role in the development of HLH through the lytic vesicle transport pathway.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2022)
Article
Immunology
Pandiarajan Vignesh, Gummadi Anjani, Rajni Kumrah, Ankita Singh, Sanjib Mondal, Johnson Nameirakpam, Ankur Jindal, Deepti Suri, Madhubala Sharma, Gurjit Kaur, Sathish Sharma, Kirti Gupta, Sreejesh Sreedharanunni, Amit Rawat, Surjit Singh
Summary: The study describes the clinical and laboratory features of patients with severe combined immunodeficiency (SCID) who developed HLH.
FRONTIERS IN IMMUNOLOGY
(2022)
Letter
Oncology
Liang V. Tang, Yu Hu
Summary: This is the first reported case of a healthy individual developing hemophagocytic lymphohistiocytosis (HLH) after receiving the COVID-19 vaccine. The patient's symptoms gradually improved after treatment. The study suggests that excluding the presence of active EBV infection or other common viruses before COVID-19 vaccination is crucial.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2021)
Article
Immunology
Yue Song, Xiaoli Li, Xuefeng He, Fei Zhou, Feng Du, Ziyan Wang, Suning Chen, Depei Wu
Summary: This study investigates the use of dose-escalating ruxolitinib in HLH patients who did not respond to the general dose. The results show that half of the patients achieved better remission after dose escalation, and sCD25 levels can serve as an early indicator for considering chemotherapy during treatment.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Genetics & Heredity
Ji Lin, Binsah George
Summary: The presentation of HIV-associated Hodgkin lymphoma can be different from the general population, and primary bone marrow involvement is more common in HIV patients. Diagnosis can be challenging due to overlapping symptoms with HIV and other associated infections, emphasizing the importance of early consideration of specific complications like hemophagocytic lymphohistiocytosis (HLH) and early bone marrow biopsy for cytopenic patients with fever of unknown origin.
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
Immunology
Timo C. E. Zondag, Lamberto Torralba-Raga, Jan A. M. Van Laar, Maud A. W. Hermans, Arjen Bouman, Iris H. I. M. Hollink, P. Martin Van Hagen, Deborah A. Briggs, Alistair N. Hume, Yenan T. Bryceson
Summary: This study reports a new RAB27A variant in a 35-year old male patient with hemophagocytic lymphohistiocytosis. The variant affected certain cellular functions but did not have an impact on appearance and pigmentation. Further investigation revealed altered binding affinity to key effector proteins, potentially leading to impaired immune cell function.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Letter
Hematology
Jan-Inge Henter, Egle Kvedaraite, Daniel Martin Munoz, Monica Cheng Munthe-Kaas, Bernward Zeller, Tove A. Nystad, Caroline Bjorklund, Isabella Donner, Magda Lourda, Henrik Zetterberg, Kaj Blennow, Nikolas Herold, Desiree Gavhed, Tatiana von Bahr Greenwood
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Rheumatology
Gustaf Bruze, Johan Askling, AnnaCarin Horne, Martin Neovius
Summary: This study compared the trajectories of marriage and parenthood in individuals with JIA and the general population. The results showed that there was no significant difference between JIA patients and the general population in terms of the timing of first marriage and parenthood, suggesting that adolescents with JIA follow a similar path into family life as their community peers. However, a subgroup of patients with systemic onset JIA had a lower rate of becoming parents for the first time compared to the general population.
Article
Biochemistry & Molecular Biology
Anirban Das, Sumedha Sudhaman, Daniel Morgenstern, Ailish Coblentz, Jiil Chung, Simone C. Stone, Noor Alsafwani, Zhihui Amy Liu, Ola Abu Al Karsaneh, Shirin Soleimani, Hagay Ladany, David Chen, Matthew Zatzman, Vanja Cabric, Liana Nobre, Vanessa Bianchi, Melissa Edwards, Lauren C. Sambira Nahum, Ayse B. Ercan, Arash Nabbi, Shlomi Constantini, Rina Dvir, Michal Yalon-Oren, Gadi Abebe Campino, Shani Caspi, Valerie Larouche, Alyssa Reddy, Michael Osborn, Gary Mason, Scott Lindhorst, Annika Bronsema, Vanan Magimairajan, Enrico Opocher, Rebecca Loret De Mola, Magnus Sabel, Charlotta Frojd, David Sumerauer, David Samuel, Kristina Cole, Stefano Chiaravalli, Maura Massimino, Patrick Tomboc, David S. Ziegler, Ben George, An Van Damme, Nobuko Hijiya, David Gass, Rose B. McGee, Oz Mordechai, Daniel C. Bowers, Theodore W. Laetsch, Alexander Lossos, Deborah T. Blumenthal, Tomasz Sarosiek, Lee Yi Yen, Jeffrey Knipstein, Anne Bendel, Lindsey M. Hoffman, Sandra Luna-Fineman, Stefanie Zimmermann, Isabelle Scheers, Kim E. Nichols, Michal Zapotocky, Jordan R. Hansford, John M. Maris, Peter Dirks, Michael D. Taylor, Abhaya Kulkarni, Manohar Shroff, Derek S. Tsang, Anita Villani, Wei Xu, Melyssa Aronson, Carol Durno, Adam Shlien, David Malkin, Gad Getz, Yosef E. Maruvka, Pamela S. Ohashi, Cynthia Hawkins, Trevor J. Pugh, Eric Bouffet, Uri Tabori
Summary: This study reports on the effectiveness of ICI treatment in children with tumors caused by germline DNA replication repair deficiency. It shows that high mutation burden and microsatellite load are important predictors of sustained response and long-term survival following PD-1 blockade.
Letter
Oncology
Audrone Muleviciene, Takuya Sekine, Timo Zondag, Yenan T. Bryceson, Bianca Tesi, Jelena Rascon
PEDIATRIC BLOOD & CANCER
(2022)
Review
Immunology
Hannes Lindahl, Yenan T. Bryceson
Summary: The development of high-throughput sequencing has advanced the understanding of genotype-phenotype correlations in congenital diseases. Neuroinflammatory diseases, although rare, are increasingly recognized among inborn errors of immunity and can have a significant impact on patient care. This review focuses on the signs and symptoms of neuroinflammation associated with pathogenic variants in immune genes and proposes a subdivision based on underlying mechanisms.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Hematology
Malin Sveijer, Tatiana von Bahr Greenwood, Martin Jadersten, Egle Kvedaraite, Henrik Zetterberg, Kaj Blennow, Magda Lourda, Desiree Gavhed, Jan-Inge Henter
Summary: This study compared levels of NFL in plasma and cerebrospinal fluid of patients with LCH, suggesting that p-NFL may be used for screening of ND-CNS-LCH. Further research is encouraged to explore the role of p-NFL in monitoring ND-CNS-LCH.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Letter
Biochemistry & Molecular Biology
Petter Brodin, Giorgio Casari, Liam Townsend, Cliona O'Farrelly, Ivan Tancevski, Judith Loeffler-Ragg, Trine H. Mogensen, Jean Laurent Casanova
Review
Immunology
Carl Inge Edvard Smith, Rula Zain, Anders osterborg, Marzia Palma, Marcus Buggert, Peter Bergman, Yenan Bryceson
Summary: The scarcity of plasmacytoid dendritic cells (pDCs) in patients with chronic lymphocytic leukaemia (CLL) may contribute to the severe clinical course of COVID-19 in these patients. Treatment of CLL with Bruton's tyrosine kinase (BTK) inhibitors can increase the number of pDCs.
SCANDINAVIAN JOURNAL OF IMMUNOLOGY
(2022)
Article
Clinical Neurology
Jonathan Kjaer Gronbaek, Aske Foldbjerg Laustsen, Sebastian Toescu, Barry Pizer, Conor Mallucci, Kristian Aquilina, Emanuela Molinari, Magnus Aasved Hjort, Lingvita Gumbeleviciene, Peter Hauser, Beatrix Palmafy, Kirsten van Baarsen, Eelco Hoving, Julian Zipfel, Christoffer Ehrstedt, Pernilla Grillner, Michael Thude Callesen, Radek Fric, Morten Wibroe, Karsten Nysom, Kjeld Schmiegelow, Astrid Sehested, Rene Mathiasen, Marianne Juhler
Summary: According to the study, there is no significant relationship between handedness and postoperative speech impairment. The study does not support the hypothesis that left-handedness should be of clinical relevance in the risk assessment of CMS.
CHILDS NERVOUS SYSTEM
(2022)
Article
Immunology
Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, Marcela Moncada-Velez, Laura E. Covill, Peng Zhang, Ilad Alavi Darazam, Paul Bastard, Lucy Bizien, Giorgia Bucciol, Sara Lind Enoksson, Emmanuelle Jouanguy, Semsi Nur Karabela, Taushif Khan, Yasemin Kendir-Demirkol, Andres Augusto Arias, Davood Mansouri, Per Marits, Nico Marr, Isabelle Migeotte, Leen Moens, Tayfun Ozcelik, Isabelle Pellier, Anton Sendel, Sevtap Senoglu, Mohammad Shahrooei, C. I. Edvard Smith, Isabelle Vandernoot, Karen Willekens, Kadriye Kart Yasar, Peter Bergman, Laurent Abel, Aurelie Cobat, Jean-Laurent Casanova, Isabelle Meyts, Yenan T. Bryceson
Summary: IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-beta and compensatory adaptive immunity.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Immunology
Qian Zhang, Daniela Matuozzo, Jeremie Le Pen, Danyel Lee, Leen Moens, Takaki Asano, Jonathan Bohlen, Zhiyong Liu, Marcela Moncada-Velez, Yasemin Kendir-Demirkol, Huie Jing, Lucy Bizien, Astrid Marchal, Hassan Abolhassani, Selket Delafontaine, Giorgia Bucciol, Gulsum Ical Bayhan, Sevgi Keles, Ayca Kiykim, Selda Hancerli, Filomeen Haerynck, Benoit Florkin, Nevin Hatipoglu, Tayfun Ozcelik, Guillaume Morelle, Mayana Zatz, Lisa F. P. Ng, David Chien Lye, Barnaby Edward Young, Yee-Sin Leo, Clifton L. Dalgard, Richard P. Lifton, Laurent Renia, Isabelle Meyts, Emmanuelle Jouanguy, Lennart Hammarstrom, Qiang Pan-Hammarstrom, Bertrand Boisson, Paul Bastard, Helen C. Su, Stephanie Boisson-Dupuis, Laurent Abel, Charles M. Rice, Shen-Ying Zhang, Aurelie Cobat, Jean-Laurent Casanova
Summary: In an international cohort of 112 hospitalized children with COVID-19 pneumonia, 12 children with recessive inborn errors of type I interferon immunity were identified. These deficiencies may contribute to the development of COVID-19 pneumonia in children. Additionally, these deficiencies were not found in individuals without pneumonia from SARS-CoV-2 infection.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Clinical Neurology
Elizabeth Schepke, Maja Lofgren, Torsten Pietsch, Thomas Olsson Bontell, Teresia Kling, Anna Wenger, Sandra Ferreyra Vega, Anna Danielsson, Sandor Dosa, Stefan Holm, Anders Oberg, Per Nyman, Marie Eliasson-Hofvander, Per-Erik Sandstrom, Stefan M. Pfister, Birgitta Lannering, Magnus Sabel, Helena Caren
Summary: DNA methylation analysis is a reliable method for the precise diagnosis of paediatric brain tumours, providing important molecular information for treatment decisions.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2022)
Article
Oncology
Olof Rask, Fredrik Nilsson, Paivi Lahteenmaki, Christoffer Ehrstedt, Stefan Holm, Per-Erik Sandstrom, Per Nyman, Magnus Sabel, Pernilla Grillner
Summary: This study investigates the diagnostic time intervals for tumors of the central nervous system in children and adolescents in Sweden and identifies factors associated with delayed diagnosis. The results provide valuable insights for clinical improvement.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Rheumatology
Benedicte Delcoigne, AnnaCarin Horne, Johan Askling, Johan Askling
Summary: The objective of this study was to examine the incidence and burden of psychiatric disorders in juvenile idiopathic arthritis (JIA) compared to the general population and same-sex siblings. The results showed that JIA patients had a higher incidence of psychiatric disorders, especially sleeping disorders, suicidal behavior, and mood and anxiety disorders.
ACR OPEN RHEUMATOLOGY
(2023)
Article
Psychology, Developmental
Caroline Gromark, Eva Hesselmark, Ida Gebel Djupedal, Maria Silverberg, AnnaCarin Horne, Robert A. Harris, Eva Serlachius, David Mataix-Cols
Summary: In studying the long-term prognosis of children with pediatric acute-onset neuropsychiatric syndrome (PANS), it was found that the majority of patients showed significant improvement during the follow-up period, but a minority displayed a chronic-static/progressive course and required additional treatments.
CHILD PSYCHIATRY & HUMAN DEVELOPMENT
(2022)