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Familial HLH

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https://www.readbyqxmd.com/read/27815752/hematopoietic-stem-cell-transplantation-for-xiap-deficiency-in-japan
#1
Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane
BACKGROUND: X-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare immunodeficiency that is characterized by recurrent hemophagocytic lymphohistiocytosis (HLH) and splenomegaly and sometimes associated with refractory inflammatory bowel disease (IBD). Although hematopoietic stem cell transplantation (HSCT) is the only curative therapy, the outcomes of HSCT for XIAP deficiency remain unsatisfactory compared with those for SLAM-associated protein deficiency and familial HLH...
November 4, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27612865/-hemophagocytic-lymphohistiocytosis-a-diagnostic-challenge-on-the-icu
#2
G Lachmann, P La Rosée, T Schenk, F M Brunkhorst, C Spies
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) has well been studied as a genetic disorder in children (primary HLH). Mutations in the regulatory complex of the cellular immune synapse lead to a loss of function of cytotoxic T‑cells and natural killer cells with excessive inflammation based on a cytokine storm. During the last decade, an increasing number of adult HLH patients without a family history of HLH (secondary or acquired HLH) have been reported. Various triggers - infections, malignancies or autoimmune diseases - result in an acquired loss of function of these cells and a sepsis-like disease...
October 2016: Der Anaesthesist
https://www.readbyqxmd.com/read/27602064/successful-allogeneic-hematopoietic-stem-cell-transplantation-in-a-boy-with-x-linked-inhibitor-of-apoptosis-deficiency-presenting-with-hemophagocytic-lymphohistiocytosis-a-case-report
#3
Ming-Yan Jiang, Xia Guo, Shu-Wen Sun, Qiang Li, Yi-Ping Zhu
X-linked inhibitor of apoptosis (XIAP) deficiency, also known as X-linked lymphoproliferative syndrome type 2 (XLP2), is a rare inherited primary immunodeficiency resulting from the XIAP (also known as BIRC4) mutation. XIAP deficiency is mainly associated with familial hemophagocytic lymphohistiocytosis (HLH) phenotypes, and genetic testing is crucial in diagnosing this syndrome. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the only successful strategy for the treatment of this disease; however, a limited number of studies has been published concerning the outcomes of allogeneic HSCT in patients with XIAP deficiency...
September 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27565627/successful-treatment-of-recurrent-cns-disease-post-bone-marrow-transplant-in-children-with-familial-hemophagocytic-lymphohistiocytosis
#4
Allison M Bock, Michelle LeVeque, Bruce Camitta, Julie-An Talano
BACKGROUND: Central nervous system (CNS) involvement is a major cause of morbidity and mortality in patients with hemophagocytic lymphohistiocytosis (HLH). Current standard of care for CNS disease utilizes high-dose systemic dexamethasone plus intrathecal methotrexate and hydrocortisone prior to transplantation. However, the morbidity and mortality remains high and there are no clear guidelines posttransplantation for screening and treatment of CNS disease. PROCEDURE: We report a single-center retrospective case series of five patients with familial HLH (FHLH) who had CNS involvement post-bone marrow transplantation (BMT)...
August 27, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27535855/-the-significance-of-pedigree-genetic-screening-and-rapid-immunological-parameters-in-the-diagnosis-of-primary-hemophagocytic-lymphohistiocytosis
#5
J Zhang, Y N Wang, J S Wang, L Wu, N Wei, L Fu, Z Gao, J H Chen, R J Pei, Z Wang
OBJECTIVE: To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH). METHODS: Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a degranulation and expression of HLH related defective protein), to evaluate the significance of these different indicators in the diagnosis of primary HLH and explore their correlations...
July 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27516033/hemophagocytic-lymphohistiocytosis-a-rare-complication-of-autologous-stem-cell-transplantation
#6
Andrei ColiŢă, Anca ColiŢă, Camelia Marioara Dobrea, Alina Daniela Tănase, Carmen Şaguna, Cecilia Gabriela Ghimici, Raluca Mihaela Manolache, Silvana Angelescu, Doina Barbu, Florentina Grădinaru, Anca Roxana Lupu
Hemophagocytic lymphohistiocytosis (HLH) is a very severe and rare syndrome of pathologic immune activation characterized by cytopenia and clinical signs and symptoms of extreme inflammation. HLH is usually fatal without treatment so that accurate and timely diagnosis is very important. The syndrome occurs as a familial disorder (familial HLH - FLH) or as an acquired condition (secondary - sHLH) in association with a variety of pathologic states: infections, rheumatologic, malignant or metabolic diseases. Malignancy associated HLH is primarily reported in T÷NK (natural killer)-cell malignancies but also in B-cell neoplasms and other types of cancer...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27513731/hemophagocytic-lymphohistocytosis-in-the-chinese-han-population-may-be-associated-with-an-stxbp2-gene-polymorphism
#7
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/27485769/5-hydroxymethylcytosine-in-e-box-motifs-acat-gtg-and-acac-gtg-increases-dna-binding-of-the-b-hlh-transcription-factor-tcf4
#8
Syed Khund-Sayeed, Ximiao He, Timothy Holzberg, Jun Wang, Divya Rajagopal, Shriyash Upadhyay, Stewart R Durell, Sanjit Mukherjee, Matthew T Weirauch, Robert Rose, Charles Vinson
We evaluated DNA binding of the B-HLH family members TCF4 and USF1 using protein binding microarrays (PBMs) containing double-stranded DNA probes with cytosine on both strands or 5-methylcytosine (5mC) or 5-hydroxymethylcytosine (5hmC) on one DNA strand and cytosine on the second strand. TCF4 preferentially bound the E-box motif (CAN|NTG) with strongest binding to the 8-mer CAG|GTGGT. 5mC uniformly decreases DNA binding of both TCF4 and USF1. The bulkier 5hmC also inhibited USF1 binding to DNA. In contrast, 5hmC dramatically enhanced TCF4 binding to E-box motifs ACAT|GTG and ACAC|GTG, being better bound than any 8-mer containing cytosine...
September 12, 2016: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/27431489/allogeneic-hematopoietic-stem-cell-transplantation-for-adult-and-adolescent-hemophagocytic-lymphohistiocytosis-a-single-center-analysis
#9
Li Fu, Jingshi Wang, Na Wei, Lin Wu, Yini Wang, Wenqiu Huang, Jia Zhang, Jinli Liu, Zhao Wang
Myeloablative conditioning-based allogeneic hematopoietic stem-cell transplantation (allo-HSCT) in the treatment of adult and adolescent hemophagocytic lymphohistiocytosis (HLH) is rarely reported. We conducted a retrospective study of 30 adult and adolescent HLH transplanted for primary HLH (n = 4), tumor-HLH (n = 8), EBV-HLH (n = 14), and underlying disease-unknown (UDU)-HLH (n = 4). Peripheral blood stem cells (PBSCs) were the stem-cell source in all patients. Twenty-three patients were transplanted from HLA-haploidentical family donors, six from HLA-identical sibling donors, and one from a matched unrelated donor...
July 18, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27426725/lrrc14-attenuates-toll-like-receptor-mediated-nf-%C3%AE%C2%BAb-signaling-through-disruption-of-ikk-complex
#10
Chenglei Wu, Yexin Yang, Jiayu Ou, Liang Zhu, Wei Zhao, Jun Cui
Activation of NF-κB signaling plays pivotal roles in innate immune responses against pathogens. It requires strict control to avert inflammatory diseases. However, the mechanisms underlying this tight regulation are not completely understood. Here, we identified LRRC14, a novel member of LRR (leucine-rich repeat) protein family, as a negative regulator in TLR signaling. Expression of LRRC14 resulted in decreased activation of NF-κB, whereas knockdown of LRRC14 enhanced NF-κB activation as well as the production of inflammatory cytokines...
September 10, 2016: Experimental Cell Research
https://www.readbyqxmd.com/read/27408432/familial-hemophagocytic-lymphohistiocytosis-due-to-mutation-of-unc13d-gene
#11
Prabhas Prasun Giri, Nirmoy Biswas, Swati Chakravarty
Hemophagocytic lymphohistiocytosis (HLH) are basically a heterogenous group of clinical syndromes, characterised by activation and non-malignant proliferation of benign histiocytes i.e. lymphocytes and macrophages, leading to a cytokine storm that accounts for the fever, organomegaly and multi-organ dysfunction. Two types of HLH are described, either due to known genetic defect (familial HLH/FHL) or due to some acquired cause either infection or rheumatological diseases. Here we present a case of a 3 months old baby, admitted with fever, hepatosplenomegaly and cytopenia and ultimately was diagnosed to be a case of Familial HLH type 3 due to defect in UNC13D gene as a result of compound heterozygous for two nonsense mutation resulting in the Munc13-4 protein defect...
June 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27304999/neonatal-haemophagocytic-lymphohistiocytosis-associated-with-maternal-adult-onset-still-s-disease
#12
Anna Lin, Terence Ping Yuen Ma, Frankie Wai Tsoi Cheng, Pak Cheung Ng
Neonatal haemophagocytic lymphohistiocytosis (HLH) is a rare but potentially lethal condition. We recently encountered a preterm infant who developed severe HLH associated with maternal adult-onset Still's disease, which to our knowledge has not been previously reported. The infant presented with fever, generalised lymphadenopathy, transient erythematous skin rash, hepatosplenomegaly, ascites, pancytopenia, marked hyperferritinaemia, and hypofibrinogenaemia, which were features similar to maternal presentation during late pregnancy...
June 16, 2016: Neonatology
https://www.readbyqxmd.com/read/27242976/hemophagocytic-lymphohistiocytosis-in-children-pathogenesis-and-treatment
#13
REVIEW
Eiichi Ishii
Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder in children that is characterized by persistent fever, splenomegaly with cytopenia, hypertriglyceridemia, and hypofibrinogenemia. Increased levels of various cytokines and soluble interleukin-2 receptor are biological markers of HLH. HLH can be classified into two major forms: primary and secondary. Familial hemophagocytic lymphohistiocytosis (FHL), a type of primary HLH, is an autosomal recessive disorder that typically occurs in infancy and can be classified into five different subtypes (FHL types 1-5)...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27081327/hemophagocytic-lymphohistiocytosis-single-center-series-of-12-cases-from-saudi-arabia
#14
Ghaleb Elyamany, Azzah Alzahrani, Huda Elfaraidi, Omar Alsuhaibani, Nada Othman, Eman Al Mussaed, Fahad Alabbas
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that commonly appears in infancy, although it has been reported in adults. Chemoimmunotherapy-based treatments have improved the survival of patients with HLH; however, overall survival is still poor. We retrospectively analyzed the data of 12 HLH patients who were admitted between 2005 and 2014. All patients were Saudi Arabia in origin with a female predominance (75%) and a median age of onset of 9.5 months. The consanguinity rates were significantly high (75%) with a positive family history in 41% of cases...
2016: Clinical Medicine Insights. Pediatrics
https://www.readbyqxmd.com/read/27073231/a-negative-feedback-loop-between-phytochrome-interacting-factors-and-hecate-proteins-fine-tunes-photomorphogenesis-in-arabidopsis
#15
Ling Zhu, Ruijiao Xin, Qingyun Bu, Hui Shen, Jonathan Dang, Enamul Huq
The phytochrome interacting factors (PIFs), a small group of basic helix-loop-helix transcription factors, repress photomorphogenesis both in the dark and light. Light signals perceived by the phytochrome family of photoreceptors induce rapid degradation of PIFs to promote photomorphogenesis. Here, we show that HECATE (HEC) proteins, another small group of HLH proteins, antagonistically regulate PIFs to promote photomorphogenesis. HEC1 and HEC2 heterodimerize with PIF family members. PIF1, HEC1, and HEC2 genes are spatially and temporally coexpressed, and HEC2 is localized in the nucleus...
April 2016: Plant Cell
https://www.readbyqxmd.com/read/27068092/identification-and-characterization-of-a-novel-aspergillus-fumigatus-rhomboid-family-putative-protease-rbda-involved-in-hypoxia-sensing-and-virulence
#16
Yakir Vaknin, Falk Hillmann, Rossana Iannitti, Netali Ben Baruch, Hana Sandovsky-Losica, Yona Shadkchan, Luigina Romani, Axel Brakhage, Olaf Kniemeyer, Nir Osherov
Aspergillus fumigatus is the most common pathogenic mold infecting humans and a significant cause of morbidity and mortality in immunocompromised patients. In invasive pulmonary aspergillosis, A. fumigatus spores are inhaled into the lungs, undergoing germination and invasive hyphal growth. The fungus occludes and disrupts the blood vessels, leading to hypoxia and eventual tissue necrosis. The ability of this mold to adapt to hypoxia is regulated in part by the sterol regulatory element binding protein (SREBP) SrbA and the DscA to DscD Golgi E3 ligase complex critical for SREBP activation by proteolytic cleavage...
June 2016: Infection and Immunity
https://www.readbyqxmd.com/read/27055430/-x-linked-lymphoproliferative-syndrome-type-1-complicated-with-secondary-hemophagocytic-lymphohistiocytosis-and-ileal-perforation-case-report-and-literature-review
#17
L Xiao, X M Guan, Y Meng, X D Zhao, Y Xian, Y F An, J Yu
OBJECTIVE: To analyze and summarize the clinical characteristics, laboratory tests and treatment of X-linked lymphoproliferative syndrome type 1 (XLP-1). METHOD: A retrospective study was done in 2012 on an XLP-1 patient to collect the data on clinical manifestation, laboratory examination, gene and protein expression, complications and prognosis. Literatures were reviewed in Pubmed with the key word"X-linked lymphoproliferative syndrome". RESULT: The patient with persistent high fever, jaundice, abdominal distension, hepatosplenomegaly and lymphadenectasis, rash and suspicious positive family history; the patient eventually died of hemophagocytic lymphohistiocytosis (HLH), with intestinal perforation, intestinal infection and bleeding after being infected with EB virus...
April 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/26987330/impairment-of-immune-function-in-children-with-familial-hemophagocytic-lymphohistiocytosis
#18
K Popko, J Jasińska, E Górska, U Demkow, W Balwierz, L Maciejka-Kembłowska, W Badowska, J Wachowiak, K Drabko, I Malinowska
Hemophagocytic lymphohistiocytosis (HLH) is a severe systemic syndrome associated with hyperactivation of macrophages and impaired regulation of the immune system. Two forms of HLH are currently recognized: genetically determined or familial (FHLH), and secondarily developed in the course of primary diseases, like autoimmune disorders, rheumatoid disorders, cancers, or infections. In the Polish population, FHLH is rather rare. The aim of the present study was to assess the immune function in a group of children with clinical symptoms suggesting FHLH...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/26947179/il-2-consumption-by-highly-activated-cd8-t%C3%A2-cells-induces-regulatory-t-cell-dysfunction-in-patients-with-hemophagocytic-lymphohistiocytosis
#19
Stéphanie Humblet-Baron, Dean Franckaert, James Dooley, Simon Bornschein, Bénédicte Cauwe, Susann Schönefeldt, Xavier Bossuyt, Patrick Matthys, Frédéric Baron, Carine Wouters, Adrian Liston
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a severe inflammatory condition driven by excessive CD8(+) T-cell activation. HLH occurs as both acquired and familial hemophagocytic lymphohistiocytosis (FHL) forms. In both conditions, a sterile or infectious trigger is required for disease initiation, which then becomes self-sustaining and life-threatening. Recent studies have attributed the key distal event to excessive IFN-γ production; however, the proximal events driving immune dysregulation have remained undefined...
July 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/26903364/previously-undiagnosed-fatal-familial-haemophagocytic-lymphohistiocytosis-in-a-24-year-old-woman
#20
Sara Barmettler, Richard J Nowak, Terri Parker, Christina Price
We present a case of a 24-year-old woman with previously undiagnosed familial haemophagocytic lymphohistiocytosis (HLH). The patient presented with fevers and cough and was found to have pancytopaenia. She underwent an extensive work up and initially met only 3 of 8 criteria for HLH. Owing to high clinical suspicion, soluble CD25 level was sent and HLH2004 protocol initiated. The soluble CD25 level returned elevated with other laboratory work and the patient met criteria for diagnosis of HLH. Genetic studies revealed a homozygous mutation in PRF1 with absent perforin in cytotoxic cells, consistent with familial HLH...
2016: BMJ Case Reports
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