keyword
MENU ▼
Read by QxMD icon Read
search

Hemophagocyte lymphohistocytosis

keyword
https://www.readbyqxmd.com/read/27513731/hemophagocytic-lymphohistocytosis-in-the-chinese-han-population-may-be-associated-with-an-stxbp2-gene-polymorphism
#1
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
https://www.readbyqxmd.com/read/26581487/a-de-novo-whole-gene-deletion-of-xiap-detected-by-exome-sequencing-analysis-in-very-early-onset-inflammatory-bowel-disease-a-case-report
#2
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
https://www.readbyqxmd.com/read/26424649/primary-immunodeficiencies-associated-with-ebv-disease
#3
REVIEW
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
https://www.readbyqxmd.com/read/25027567/extracavitary-primary-effusion-lymphoma-initially-presenting-with-hemophagocytic-lymphohistocytosis
#4
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
https://www.readbyqxmd.com/read/24871221/disseminated-mycobacterium-lentiflavum-responsible-for-hemophagocytic-lymphohistocytosis-in-a-man-with-a-history-of-heart-transplantation
#5
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
https://www.readbyqxmd.com/read/24171970/-diagnosis-value-of-%C3%AE-ifn-on-the-specific-pathogen-infection-associated-hemophagocytic-lymphohistocytosis
#6
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
https://www.readbyqxmd.com/read/24161631/acute-pain-transfusion-reaction
#7
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
https://www.readbyqxmd.com/read/23628055/-detection-of-serum-neopterin-in-patients-with-hemophagocytic-lymphohistocytosis-and-its-significance
#8
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
https://www.readbyqxmd.com/read/23382066/persistent-defective-membrane-trafficking-in-epithelial-cells-of-patients-with-familial-hemophagocytic-lymphohistiocytosis-type-5-due-to-stxbp2-munc18-2-mutations
#9
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
https://www.readbyqxmd.com/read/23289995/-a-case-of-hemophagocytic-lymphohistocytosis-syndrome-caused-by-severe-tuberculosis-and-literature-review
#10
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
https://www.readbyqxmd.com/read/23124152/lymphocyte-depleted-hodgkin-lymphoma-complicating-hemophagocytic-lymphohistiocytosis-as-an-initial-manifestation-a-case-report-and-review-of-the-literature
#11
REVIEW
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
https://www.readbyqxmd.com/read/23100279/development-of-classical-hodgkin-s-lymphoma-in-an-adult-with-biallelic-stxbp2-mutations
#12
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
https://www.readbyqxmd.com/read/21924052/-genetic-and-proteinic-analysis-of-a-chinese-boy-with-x-linked-lymphoproliferative-disease-and-his-maternal-relatives
#13
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
https://www.readbyqxmd.com/read/21863286/hematopoietic-stem-cell-transplantation-with-reduced-intensity-conditioning-from-a-family-haploidentical-donor-in-an-infant-with-familial-hemophagocytic-lymphohistocytosis
#14
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
https://www.readbyqxmd.com/read/20543108/the-exocytosis-of-lytic-granules-is-impaired-in-vti1b-or-vamp8-deficient-ctl-leading-to-a-reduced-cytotoxic-activity-following-antigen-specific-activation
#15
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
https://www.readbyqxmd.com/read/19953648/clinical-presentation-of-griscelli-syndrome-type-2-and-spectrum-of-rab27a-mutations
#16
Marie Meeths, Yenan T Bryceson, Eva Rudd, Chengyun Zheng, Stephanie M Wood, Kim Ramme, Karin Beutel, Henrik Hasle, Carsten Heilmann, Kjell Hultenby, Hans-Gustaf Ljunggren, Bengt Fadeel, Magnus Nordenskjöld, Jan-Inge Henter
BACKGROUND: Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed...
April 2010: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/19156850/a-case-of-natural-killer-cell-lymphoma-presenting-with-bilateral-pleural-effusions-and-hemophagocytic-lymphohistocytosis
#17
Chun-Fu Tai, Luan Yin Chang, Dong-Tsamn Lin, Kai-Hsin Lin, Shiann-Tarng Jou, Yung-Li Yang
Natural killer (NK) cell lymphoma of lung is very rare. We report a case of NK cell lymphoma presented in a 17-year-old male with bilateral pleural effusions and hemophagocytic lymphohistocytosis. Morphologic and immunohistochemical tests revealed an association of NK cell lymphoma with Epstein-Barr virus. A literature review helped identify other cases of patients with NK cell lymphoma, their treatment and outcomes.
May 2009: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/8127256/immunosuppression-preliminary-results-of-alternative-maintenance-therapy-for-familial-hemophagocytic-lymphohistocytosis-fhl
#18
B J Loechelt, M Egeler, A H Filipovich, H Jyonouchi, R S Shapiro
Hemophagocytic lymphohistiocytosis (HLH) describes a group of disorders with similar clinical features that are associated with a very high mortality rate. Patients with HLH, and particularly the infantile form referred to as familial hemophagocytic lymphohistiocytosis (FHL), are often treated with multiple courses of epipodophyllotoxins, such as etoposide, for prolonged periods of time. Because of the concern regarding the risk of epipodophyllotoxin-induced acute myelogenous leukemia (AML) we have explored the use of immunosuppression as maintenance therapy for patients with FHL while they await the only known definitive treatment, i...
1994: Medical and Pediatric Oncology
https://www.readbyqxmd.com/read/1867086/lipoprotein-alterations-and-plasma-lipoprotein-lipase-reduction-in-familial-hemophagocytic-lymphohistiocytosis
#19
J I Henter, L A Carlson, O Söder, P Nilsson-Ehle, G Elinder
Serum lipid abnormalities are common in familial hemophagocytic lymphohistocytosis (FHL), a disorder also characterized by fever, hepatosplenomegaly, pancytopenia and a prominent lymphohistiocytic accumulation in the mononuclear phagocyte system. The lipoprotein pattern in nine children with FHL was studied with a quantitative method measuring cholesterol and triglycerides in each major class of lipoproteins. Triglycerides were markedly elevated during active FHL in serum, very low density lipoproteins, and low density lipoproteins...
June 1991: Acta Paediatrica Scandinavica
https://www.readbyqxmd.com/read/973781/-hemophagocytic-reticulosis-with-hypertriglyceridemia
#20
P Landrieu, J J Choulot
This syndrome is characterized by a hyper-triglyceridemia associated with a deficiency of the plasma lipolytic activity induced by heparin infusion. All signes ascribed to familial lymphohistocytosis were found in this patient. When a diagnosis of acute reticulosis in children is made, such biological characteristics should be searched for. Since in systemic lupus erythematosus an acquired and analogous type of hyperlipidemia has been described, the hypothesis of an immunological pathogenesis in familial lymphohistiocytosis may be plausible...
May 1976: Archives Françaises de Pédiatrie
keyword
keyword
92161
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"