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Hemophagocytic lymphohistiocytosis

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https://www.readbyqxmd.com/read/28533414/manipulating-dna-damage-response-signaling-for-the-treatment-of-immune-mediated-diseases
#1
Jonathan P McNally, Scott H Millen, Vandana Chaturvedi, Nora Lakes, Catherine E Terrell, Eileen E Elfers, Kaitlin R Carroll, Simon P Hogan, Paul R Andreassen, Julie Kanter, Carl E Allen, Michael M Henry, Jay N Greenberg, Stephan Ladisch, Michelle L Hermiston, Michael Joyce, David A Hildeman, Jonathan D Katz, Michael B Jordan
Antigen-activated lymphocytes undergo extraordinarily rapid cell division in the course of immune responses. We hypothesized that this unique aspect of lymphocyte biology leads to unusual genomic stress in recently antigen-activated lymphocytes and that targeted manipulation of DNA damage-response (DDR) signaling pathways would allow for selective therapeutic targeting of pathological T cells in disease contexts. Consistent with these hypotheses, we found that activated mouse and human T cells display a pronounced DDR in vitro and in vivo...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28523896/hemophagocytic-lymphohistiocytosis-in-a-newborn-presenting-as-blueberry-muffin-baby
#2
Krista N Larson, Sergio R Gaitan, Benjamin J Stahr, Dean S Morrell
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome characterized by uncontrolled activation and proliferation of proinflammatory cytokines. Initial presentation commonly includes fever, hepatosplenomegaly, and pancytopenia; 6 to 65% of cases also have a concurrent cutaneous eruption. We present the case of a 6-day-old premature infant boy with congenital severe thrombocytopenia, anemia, and hepatosplenomegaly who presented with several cutaneous violaceous papules and nodules and was found to have HLH...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28523571/congenital-immature-pure-erythroid-leukemia-with-e-cadherin-expression
#3
Akihiro Tamura, Suguru Uemura, Atsuro Saito, Saki Okubo, Nanako Nino, Teppei Tahara, Takehito Yokoi, Kenji Kishimoto, Toshiaki Ishida, Daiichiro Hasegawa, Keiichiro Kawasaki, Seiji Yoshimoto, Hideto Nakao, Makiko Yoshida, Yoshiyuki Kosaka
Congenital pure erythroid leukemia is exceedingly rare and poses a diagnostic challenge. We report an atypical case of congenital pure erythroid leukemia that did not express typical erythroid markers. The patient presented with a high white blood cell count with blastic cells at birth. Although flow cytometric analyses of peripheral blood and bone marrow showed a large CD45-negative cell population, we did not identify any evidence of monoclonality. While the circulating blasts decreased with only supportive care, hepatomegaly with multiple nodules was accompanied by liver failure, disseminated intravascular coagulation, and development of hemophagocytic lymphohistiocytosis...
May 18, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28521652/case-report-patient-with-unexplained-high-fever-and-pancytopenia
#4
Kelly De Schuyter, Tom Lodewyck
OBJECTIVE AND IMPORTANCE: We present a case of hemophagocytic lymphohistiocytosis (HLH), giving insight in how to establish diagnosis and start appropiate treatment. CLINICAL PRESENTATION: A 45-year-old male presented at the emergency ward with high fever and pancytopenia. Repeat bone marrow aspirates showed hemophagocytosis. Extensive work-up with exclusion of other infectious and malignant diseases, eventually lead us to the diagnosis of hemophagocytic lymphohistiocytosis...
May 19, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28516082/multifocal-recurrent-osteomyelitis-and-hemophagocytic-lymphohistiocytosis-in-a-boy-with-partial-dominant-ifn-%C3%AE-r1-deficiency-case-report-and-review-of-the-literature
#5
Aidé Tamara Staines-Boone, Caroline Deswarte, Edna Venegas Montoya, Luz María Sánchez-Sánchez, Jorge Alberto García Campos, Teodoro Muñiz-Ronquillo, Jacinta Bustamante, Francisco J Espinosa-Rosales, Saul Oswaldo Lugo Reyes
Mutations in the genes coding for cytokines, receptors, second messengers, and transcription factors of interferon gamma (IFN-γ) immunity cause Mendelian susceptibility to mycobacterial disease (MSMD). We report the case of a 7-year-old male patient with partial dominant (PD) IFN-γ receptor 1 deficiency who had suffered from multifocal osteomyelitis attributable to bacille Calmette-Guérin vaccination since the age of 18 months. He developed hemophagocytic lymphohistiocytosis (HLH), a hyper-inflammatory complication, and died with multiorgan dysfunction, despite having been diagnosed and treated relatively early...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28504497/liver-disease-and-dyslipidemia-as-a-manifestation-of-lysosomal-acid-lipase-deficiency-lal-d-clinical-and-diagnostic-aspects-and-a-new-treatment-an-update
#6
Luisa Bay, Cristina Canero Velasco, Mirta Ciocca, Andrea Cotti, Miriam Cuarterolo, Alejandro Fainboim, Eduardo Fassio, Marcela Galoppo, Federico Pinero, Paula Rozenfeld
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28497365/clinical-utility-of-soluble-interleukin-2-receptor-in-hemophagocytic-syndromes-a-systematic-scoping-review
#7
REVIEW
Molly Lin, Sujin Park, Anna Hayden, Dean Giustini, Martina Trinkaus, Morris Pudek, Andre Mattman, Marion Schneider, Luke Y C Chen
The serum-soluble interleukin-2 receptor (sIL-2r) level is considered an important diagnostic test and disease marker in hemophagocytic syndromes/hemophagocytic lymphohistiocytosis (HPS/HLH). However, this cytokine receptor is rarely measured in clinical practice and has been excluded from recent diagnostic/classification criteria such as the HScore and macrophage activation syndrome (MAS) 16. We performed a systematic scoping review of 64 articles (1975-2016) examining the clinical utility of sIL-2r in HPS/HLH...
May 12, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28494931/hemophagocytic-lymphohistiocytosis-in-acute-african-swine-fever-clinic
#8
Z R Karalyan, Z R Ter-Pogossyan, N Yu Karalyan, Z B Semerjyan, M R Tatoyan, S A Karapetyan, E M Karalova
INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) usually has been defined as the combination of a proliferation of cytologically benign, actively phagocytic macrophages in bone marrow, spleen, lymph nodes, etc. in association with fever, cytopenia, splenomegaly, and hypertriglyceridemia. HLH is often triggered by viral infection. The aim of this study was to ascertain the features of HLH involvement in African swine fever virus (ASFV) (genotype II) pathogenesis. METHODS: The serum levels of macrophage colony-stimulating factor (MCSF) and granulocyte-macrophage colony-stimulating factor (GMCSF), as well as the histological constitution (for hemophagocytic macrophages detection) of various organs of pigs infected with ASFV genotype II were investigated...
May 2017: Veterinary Immunology and Immunopathology
https://www.readbyqxmd.com/read/28476145/disseminated-bacillus-calmette-gu%C3%A3-rin-bcg-infections-in-infants-with-immunodeficiency
#9
Suleiman Al-Hammadi, Ahmed R Alsuwaidi, Eman T Alshamsi, Ghassan A Ghatasheh, Abdul-Kader Souid
BACKGROUND: The Bacillus Calmette-Guérin (BCG) preparations are live-attenuated derivatives of Mycobacterium bovis. These products are used to vaccinate infants at birth, a practice that may result in a disseminated infection in those patients who have an unidentified immunodeficiency. CASE PRESENTATION: Patients who were immunized at birth with BCG and who developed a disseminated infection are reported here to emphasize the importance of taking an extensive medical history before ‎giving the BCG vaccine...
May 5, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28471834/hemophagocytic-lymphohistiocytosis-in-patients-with-metastatic-malignant-melanoma
#10
Sarah Stabler, Coralie Becquart, Florent Dumezy, Louis Terriou, Laurent Mortier
Hemophagocytic lymphohistiocytosis (HLH) is an autoinflammatory disease that classically occurs because of infections, autoinflammatory, or autoimmune diseases, hematologic cancers, and rarely because of solid tumor. We report a rare case of HLH attributed to metastatic malignant melanoma treated without corticosteroid and with a nonfatal outcome thanks to specific therapies: etoposide for HLH and a selective inhibitor of mutated forms of BRAF kinase associated with a MEK inhibitor for melanoma.
May 3, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28468610/a-case-report-of-novel-mutation-in-prf1-gene-which-causes-familial-autosomal-recessive-hemophagocytic-lymphohistiocytosis
#11
Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi
BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28459018/visceral-leishmaniasis-associated-hemophagocytosis-a-tale-of-two-unexpected-diagnoses-from-a-nonendemic-region
#12
Rashmi Kaul Raina, Sujeet Raina, Manupriya Sharma
A case of visceral leishmaniasis (VL)-associated hemophagocytic lymphohistiocytosis (HLH) in an immunocompetent native from a nonendemic area was reported. The patient belonged to Ravi river valley area (altitude 996 meters above the mean sea level) of Chamba, Himachal Pradesh, India. VL and HLH were not a differential diagnosis. Identification of the Leishman-Donovan bodies and hemophagocytosis in bone marrow aspirate and biopsy provided the diagnosis. The patient recovered to the treatment with amphotericin B...
January 2017: Tropical Parasitology
https://www.readbyqxmd.com/read/28458669/differences-in-granule-morphology-yet-equally-impaired-exocytosis-among-cytotoxic-t-cells-and-nk-cells-from-chediak-higashi-syndrome-patients
#13
Samuel C C Chiang, Stephanie M Wood, Bianca Tesi, Himmet Haluk Akar, Waleed Al-Herz, Sandra Ammann, Fatma Burcu Belen, Umran Caliskan, Zühre Kaya, Kai Lehmberg, Turkan Patiroglu, Huseyin Tokgoz, Ayşegül Ünüvar, Wendy J Introne, Jan-Inge Henter, Magnus Nordenskjöld, Hans-Gustaf Ljunggren, Marie Meeths, Stephan Ehl, Konrad Krzewski, Yenan T Bryceson
Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in LYST, resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed. The latter has been linked to the degree of HLH susceptibility. Since the discrepancies in NK cell- and T cell-mediated cellular cytotoxicity might result from differences in regulation of cytotoxic granule release, we here evaluated perforin-containing secretory lysosome size and number in freshly isolated lymphocytes from CHS patients and furthermore compared their exocytic capacities...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28452857/a-case-of-hemophagocytic-lymphohistiocytosis-and-kawasaki-disease-concurrent-or-overlapping-diagnoses
#14
Allison S Bechtel, Michael Joyce
Hemophagocytic lymphohistiocytosis (HLH) is not always suspected at the time of presentation. It is often mistaken for other diagnoses; complicated by the fact that it is often associated with an inciting event that has significant overlap. Kawasaki disease, along with other disorders, such as Ebstein Barr Virus infection, are conditions that may lead HLH. Our patient had a presentation that was consistent with Kawasaki disease on initial presentation, however subsequently met the diagnostic criteria of HLH...
April 27, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28450451/a-novel-munc13-4-s100a10-annexin-a2-complex-promotes-weibel-palade-body-exocytosis-in-endothelial-cells
#15
Tarek Chehab, Nina Criado Santos, Anna Holthenrich, Sophia N Koerdt, Jennifer Disse, Christian Schuberth, Ali Reza Nazmi, Maaike Neeft, Henriette Koch, Kwun Nok M Man, Sonja M Wojcik, Thomas F J Martin, Peter van der Sluijs, Nils Brose, Volker Gerke
Endothelial cells respond to blood vessel injury by the acute release of pro-coagulant von-Willebrand factor (VWF) that is stored in unique secretory granules called Weibel-Palade bodies (WPBs). Stimulated WPB exocytosis critically depends on the proper recruitment of WPBs to the plasma membrane but factors involved in WPB-plasma membrane tethering are not known. Here we identify Munc13-4, a protein mutated in familial hemophagocytic lymphohistiocytosis 3 (FHL3), as a WPB tethering factor. Munc13-4 promotes histamine-evoked WPB exocytosis, it is present on WPBs, and secretagogue stimulation triggers an increased recruitment of Munc13-4 to WPBs and a clustering of Munc13-4 at sites of WPB-plasma membrane contact...
April 27, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28433836/recent-advances-in-diagnostic-and-therapeutic-guidelines-for-primary-and-secondary-hemophagocytic-lymphohistiocytosis
#16
REVIEW
Smita Ramachandran, Fauzia Zaidi, Archana Aggarwal, Rani Gera
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome characterized by excessive activation of macrophages and T cells resulting from defective cytotoxicity. It is potentially life threatening due to the large amounts of cytokines released by the activated macrophages and lymphocytes secondary to a hyperinflammatory response. It has a high fatality in children with an incidence of approximately 1.2cases/million per year. METHOD: The literature was extensively searched in PubMed, MEDLINE and Google scholar...
November 3, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28427176/metronomic-regimen-as-an-effective-treatment-for-aggressive-t-lgl-leukemia-with-central-nervous-system-infiltration-clinical-experience-and-review-of-literature
#17
REVIEW
Yun Liu, Lei Fan, Huihui Zhao, Wei Xu, Jianyong Li
A 71-year-old man was diagnosed with T-Large granular lymphocytic (LGL) leukemia, which usually represents a relatively indolent clinical course. While the clinical manifestation of this patient we report herein was aggressive with lasting fever, splenomegaly and hemophagocytic lymphohistiocytosis (HLH). T-cell immunophenotype was CD3+CD4-CD8-CD5-CD7-TCRαβ+. After comprehensive evaluation, an adjusted chemotherapy regimen CEOP (cyclophosphamide, vincristine, etoposide, prednisone) with etoposide, a potential effective regimen for HLH was administrated to the patient...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422850/tuberculosis-associated-hemophagocytic-lymphohistiocytosis-with-initial-presentation-of-fever-of-unknown-origin-in-a-general-hospital-an-analysis-of-8-clinical-cases
#18
Yun Zhang, Guangyu Liang, Hongli Qin, Yuanjie Li, Xuejun Zeng
The study aimed to investigate the clinical features and prognoses of patients with tuberculosis (TB) who had secondary hemophagocytic lymphohistiocytosis (HLH).Patients first presenting with fever of unknown origin, who were ultimately diagnosed with TB-associated secondary HLH, were assessed retrospectively. We summarized and analyzed clinical manifestations, laboratory examinations, diagnoses, treatments, and prognoses of patients using clinical data, outpatient follow-up, and telephone follow-up in combination with literature review...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28413901/elevation-of-cd16-cd56-nk-cells-and-down-regulation-of-serum-interleukin-21-il-21-and-il-1%C3%AE-after-splenectomy-in-relapsed-hemophagocytic-lymphohistiocytosis-of-unknown-cause
#19
Jingshi Wang, Wei Han, Zhuo Gao, Yini Wang, Lin Wu, Jia Zhang, Wenyuan Lai, Zhao Wang
OBJECTIVES: Encouraging progress has been made in application of splenectomy in the treatment of relapsed hemophagocytic lymphohistiocytosis (HLH) of unknown cause. The aim was to determine the roles of lymphocyte subpopulations and inflammatory cytokines in splenectomy. METHODS: We retrospectively analyzed changes in lymphocyte subpopulations and levels of inflammatory cytokines at different time-points before and after splenectomy in the patients with relapsed HLH of unknown cause, as well as the correlations between these changes and the disease prognosis...
April 15, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28409119/severe-dengue-due-to-secondary-hemophagocytic-lymphohistiocytosis-a-case-study
#20
Ujjwayini Ray, Soma Dutta, Susovan Mondal, Syamasis Bandyopadhyay
Dengue, transmitted by the mosquito Aedes aegypti affects millions of people worldwide every year. Dengue induced hemophagocytic lymphohistiocytosis (HLH) is a serious condition and may prove fatal if not detected early and treated appropriately. Diagnosis of HLH is challenging and usually missed as clinical and laboratory findings are nonspecific. Moreover, the pathophysiology of the systemic inflammatory response syndrome and/or sepsis is remarkably similar to HLH. Secondary HLH following infection by the dengue virus is now being increasingly recognized as a cause of severe form of the disease...
2017: IDCases
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