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hemophagocytic lymphohistocytosis

Esra Pekpak, Benhur Sirvan Cetin
Hemophagocytic lymphohistocytosis (HLH) is a potentially fatal hyperinflammatory syndrome that is characterized by proliferation of histiocytes and hemophagocytosis in different organs. The diagnostic criteria include fever, hepatosplenomegaly, bicytopenia, high serum ferritin level, decreased natural killer cell activity, elevated soluble CD25 level, high serum fasting triglyceride level or low fibrinogen level, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. HLH can be classified as primary and secondary...
November 2017: Journal of Pediatric Hematology/oncology
Arik Bernard Schulze, Britta Heptner, Torsten Kessler, Birgit Baumgarten, Viorelia Stoica, Michael Mohr, Rainer Wiewrodt, Viktoria Susanne Warneke, Wolfgang Hartmann, Jörg Wüllenweber, Christoph Schülke, Michael Schäfers, Dunja Wilmes, Karsten Becker, Lars Henning Schmidt, Andreas H Groll, Wolfgang E Berdel
Histoplasmosis in central Europe is a rare fungal disease with diverse clinical presentations. Apart from acute pulmonary histoplasmosis and involvement of the central nervous system, the most serious clinical presentation is progressive disseminated histoplasmosis which is generally associated with severe immunodeficiency and, in particular, advanced human immunodeficiency virus infection. Here, we report on an immunocompetent female residing in a non-endemic area, presenting with progressive disseminated histoplasmosis after a remote travel history to Thailand and Costa Rica...
March 27, 2017: European Journal of Haematology
Shiyuan Zhou, Hongyu Ma, Bo Gao, Guangming Fang, Yi Zeng, Qing Zhang, GaoFu Qi
BACKGROUND: Hemophagocytic lymphohistocytosis (HLH) is a rare but fatal hyperinflammatory syndrome caused by uncontrolled proliferation of activated macrophages and T lymphocytes secreting high amounts of inflammatory cytokines. Genetic defect is a common cause of HLH. HLH is complicated to be diagnosed as there are many common symptoms with other disorders. CASE PRESENTATION: Here we report on an HLH case caused by 1 bp deletion in gene SH2D1A. Patient was a 3-years-old boy and had fever for more than 8 days...
February 14, 2017: BMC Medical Genetics
Zhuanggui Chen, Lifen Yang, Yating Li, Li Pan, Meirong Li, Abdullah M S Al-Hatmi, Jacques F Meis, Wei Lai, Peiying Feng
We describe a 6-week-old female infant with cutaneous invasive aspergillosis accompanied with hemophagocytic lymphohistocytosis. Aspergillus flavus was isolated from biopsies of necrotic skin lesions on the forehead and scalp; morphologic identification was confirmed by molecular analysis. In vitro antifungal susceptibility testing showed that amphotericin B and triazoles had potent activity. The patient responded well to treatment with intravenous amphotericin B combined with oral posaconazole and local wound care...
April 2017: Pediatric Infectious Disease Journal
Li Yang, Yang Tang, Fang'Xi Xiao, Jie Xiong, Ke'Feng Shen, Ya'Nan Liu, Wei Zhang, Li'Chang Zheng, Jian'Feng Zhou, Min Xiao
STUDY PURPOSE: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages. In this study, we aimed to explore the genetic factors involved in the pathogenesis of both acquired and familial type HLH. METHOD: The ION TORRENT semi-conductor sequencing method was used to sequence samples from 10 patients who were diagnosed or highly suspected of HLH...
2016: PloS One
Judith R Kelsen, Noor Dawany, Alejandro Martinez, Alejuandro Martinez, Christopher M Grochowski, Kelly Maurer, Eric Rappaport, David A Piccoli, Robert N Baldassano, Petar Mamula, Kathleen E Sullivan, Marcella Devoto
BACKGROUND: Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play a more prominent role in this young population, and monogenic defects in genes related to primary immunodeficiencies are responsible for the disease in a small subset of patients with VEO-IBD...
November 18, 2015: BMC Gastroenterology
Jeffrey I Cohen
Epstein-Barr virus (EBV) infects nearly all humans and usually is asymptomatic, or in the case of adolescents and young adults, it can result in infectious mononucleosis. EBV-infected B cells are controlled primarily by NK cells, iNKT cells, CD4 T cells, and CD8 T cells. While mutations in proteins important for B cell function can affect EBV infection of these cells, these mutations do not result in severe EBV infection. Some genetic disorders affecting T and NK cell function result in failure to control EBV infection, but do not result in increased susceptibility to other virus infections...
2015: Current Topics in Microbiology and Immunology
Nirav N Shah, Neil Harrison, Mark Stonecypher, Dale Frank, Valerianna Amorosa, Jakub Svoboda
No abstract text is available yet for this article.
October 2014: Clinical Lymphoma, Myeloma & Leukemia
G Thomas, S Hraiech, S Dizier, P J Weiller, N Ene, J Serratrice, V Secq, P Ambrosi, M Drancourt, A Roch, L Papazian
Mycobacterium lentiflavum is a nontuberculous, slowly growing mycobacterium usually recognized as a contaminant. Here, we report a case of disseminated M. lentiflavum infection responsible for hemophagocytic lymphohistocytosis in a heart-transplanted man.
August 2014: Journal of Clinical Microbiology
Wei-qun Xu, Bin-hua Pan, Zen Wang, Ling-yan Zhang, Bei Ye, Yong-min Tang
No abstract text is available yet for this article.
October 2013: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Jody Hardwick, Michael Osswald, Daniel Walker
A 34-year-old woman with a diagnosis of hemophagocytic lymphohistocytosis (HLH) received a double umbilical cord blood transplantation following a myeloablative chemotherapy preparative regimen with busulfan and cyclophosphamide. HLH is a rare, potentially fatal hematologic disorder characterized by the overactivation of histocytes and T lymphocytes, leading to organ infiltration and acute illness. On day 25 post-transplantation, the patient required a platelet transfusion for a platelet count of 6,000 per ml (normal range = 150,000-450,000 per ml)...
November 2013: Oncology Nursing Forum
Filip Christian Castberg, Anja Poulsen, Bodil Laub Petersen, Birgitte Lausen
Pancytopenia, fever and splenomegaly are frequent causes for referrals to paediatric haematology departments, on the suspicion of acute leukaemia. We report two cases of Danish children with the tropical disease visceral leishmaniasis (VL) contracted on short vacations in Southern Europe. One of the patients developed secondary haemophagocytic lymphohistocytosis (HLH). Both children were successfully treated with liposomal amphotericin B. In Denmark, VL is a rare but important differential diagnosis to acute leukaemia and HLH, and should be ruled out after journeys to endemic areas, including Southern Europe...
September 16, 2013: Ugeskrift for Laeger
Wei-Feng Chen, Ji Xu, Hong-Xia Qiu, Xiang-Chou Yang, Wei Zhang, Su-Jiang Zhang, Xiao-Yan Zhang, Jian-Yong Li
This study was aimed to detect the peripheral blood serum neopterin (Npt) level in the patients with hemophagocytic lymphohistocytosis (HLH) and to explore its significance in HLH. The enzyme-linked immunosorbent assay (ELISA) was applied to detect the serum Npt level and sCD25 level in 20 HLH patients before and after treatment and 15 healthy controls. The results indicated that the serum Npt and sCD25 levels in HLH patients were significantly higher than those in healthy controls (P < 0.0001). The serum Npt and sCD25 levels in the HLH group decreased significantly after treatment, respectively (P < 0...
April 2013: Zhongguo Shi Yan Xue Ye Xue za Zhi
Polina Stepensky, Jack Bartram, Thomas F Barth, Kai Lehmberg, Paul Walther, Kerstin Amann, Alan D Philips, Ortraud Beringer, Udo Zur Stadt, Ansgar Schulz, Persis Amrolia, Michael Weintraub, Klaus-Michael Debatin, Manfred Hoenig, Carsten Posovszky
BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare primary immune disorder defined by mutations in the syntaxin binding protein 2 (STXBP2) alias MUNC18-2. Despite defective immunity and a hyper-inflammatory state, clinical findings such as neurological, gastrointestinal, and bleeding disorders are present in a significant number of patients and suggest an impaired expression and function of STXBP2 in cells other than cytotoxic lymphocytes. PROCEDURE: We investigated four patients with FHL5 suffering from severe enteropathy and one of whom also had renal tubular dysfunction despite successful hematopoietic stem cell transplantation (HSCT)...
July 2013: Pediatric Blood & Cancer
Jing Li, Shan Yu, Mei Wang, Hong-Bing Chen, Wei Wang
OBJECTIVE: To investigate the clinical features of a case of hemophagocytic lymphohistocytosis syndrome (abbreviated as hemophagocytic syndrome, HPS) caused by severe tuberculosis and therefore to improve early diagnosis of this condition. METHODS: The clinical features and process of diagnosis and treatment of a case with HPS caused by severe tuberculosis in July 2011 were analyzed, and the reported literatures of the disease were reviewed. RESULTS: The patient was a 16-year-old male...
October 2012: Chinese Journal of Tuberculosis and Respiratory Diseases
Masao Hagihara, Morihiro Inoue, Jian Hua, Yasunobu Iwaki
Hemophagocytic lymphohistocytosis (HLH) is commonly associated with infectious diseases or T/NK cell-lymphoma; however that with Hodgkin lymphoma (HL) was rarely reported. Herein, we describe a young male diagnosed with lymphocyte-depleted HL (LD-HL) complicated by HLH as an initial manifestation. He was given high-dose steroid therapy plus recombinant thrombomodulin, and subsequent ABVd (doxorubicin, bleomycin, vinblastine, dacarbazine) treatment. In spite of the achievement of a partial remission treated with one cycle of ABVd, he relapsed after 3 cycles...
2012: Internal Medicine
Maciej Machaczka, Monika Klimkowska, Samuel C C Chiang, Marie Meeths, Martha-Lena Müller, Britt Gustafsson, Jan-Inge Henter, Yenan T Bryceson
Experimental model systems have delineated an important role for cytotoxic lymphocytes in the immunosurveillance of cancer. In humans, perforin-deficiency has been associated with occurrence of hematologic malignancies. Here, we describe an Epstein-Barr virus-positive classical Hodgkin's lymphoma in a patient harboring biallelic mutations in STXBP2, a gene required for exocytosis of perforin-containing lytic granules and associated with familial hemophagocytic lymphohistocytosis. Cytotoxic T lymphocytes were found infiltrating the tumor, and a high frequency of Epstein-Barr virus-specific cytotoxic T lymphocytes were detected in peripheral blood...
May 2013: Haematologica
Xi Yang, Jing Wang, Yun-fei An, Hirokazu Kanegane, Toshio Miyawaki, Xiao-dong Zhao
OBJECTIVE: X-linked lymphoproliferative disease (XLP), a genetic disorder characterized by immunodeficiency to Epstein-Barr virus (EBV) infection, has been linked to mutations in the SH2D1A gene. XLP patient displays EBV associated fulminant infectious mononucleosis or hemophagocytic lymphohistocytosis, hypogammaglobulinemia or malignant lymphoma. Here we report the clinical features, gene mutation and SAP expression on PBMCs of a Chinese patient with XLP and potential carriers. METHOD: A 6 years old male patient and his maternal relatives were enrolled in this study...
June 2011: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Hideaki Ohta, Emiko Miyashita, Ikuko Hirata, Risa Matsumura, Hisao Yoshida, Yoshiko Hashii, Takeshi Higashiura, Takahiro Yasumi, Yuuki Murata, Toshio Heike, Xi Yang, Hirokazu Kanegane, Osamu Ohara, Keiichi Ozono
Allogeneic hematopoietic stem cell transplantation is the only curative method for patients with familial hemophagocytic lymphohistiocytosis (FHL). We present a case of a 3-month-old girl with Munc13-4 mutation (FHL3), who underwent bone marrow transplantation (BMT) from her human leukocyte antigen-haploidentical mother following reduced intensity conditioning (RIC) with fludarabine, melphalan, and busulfan. Engraftment after BMT was generally uneventful, with only mild acute graft versus host disease. Munc13-4 protein was restored following BMT, and she is well and free of disease 14 months after BMT...
September 2011: International Journal of Hematology
Ralf Dressel, Leslie Elsner, Peter Novota, Namita Kanwar, Gabriele Fischer von Mollard
The exocytosis of cytotoxic proteins stored in lytic granules of activated CTL is a key event during killing of target cells. Membrane fusion events that are mediated by soluble N-ethylmaleimide-sensitive-factor attachment protein receptor (SNARE) proteins are crucial, as demonstrated by patients with familial hemophagocytic lymphohistocytosis type 4 who have mutations in the SNARE protein syntaxin-11 that result in an impaired degranulation of cytotoxic cells. We found an increased mRNA expression of the SNARE protein genes Vti1b and Vamp8 during Ag-specific activation of CTL from TCR-transgenic OT-I mice...
July 15, 2010: Journal of Immunology: Official Journal of the American Association of Immunologists
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