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Familial HLH

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https://www.readbyqxmd.com/read/29326099/interleukin-18-diagnostically-distinguishes-and-pathogenically-promotes-human-and-murine-macrophage-activation-syndrome
#1
Eric S Weiss, Charlotte Girard-Guyonvarc'h, Dirk Holzinger, Adriana A de Jesus, Zeshan Tariq, Jennifer Picarsic, Eduardo J Schiffrin, Dirk Foell, Alexei A Grom, Sandra Ammann, Stephan Ehl, Tomoaki Hoshino, Raphaela Goldbach-Mansky, Cem Gabay, Scott W Canna
Hemophagocytic Lymphohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS) are life-threatening hyperferritinemic systemic inflammatory disorders. Though profound cytotoxic impairment causes familial HLH (fHLH), the mechanisms driving non-fHLH and MAS are largely unknown. MAS occurs in patients with suspected rheumatic disease, but the mechanistic basis for its distinction is unclear. Recently, a syndrome of recurrent MAS with infantile enterocolitis caused by NLRC4 inflammasome hyperactivity highlighted the potential importance of Interleukin (IL)-18...
January 11, 2018: Blood
https://www.readbyqxmd.com/read/29296930/gene-transfer-into-hematopoietic-stem-cells-reduces-hlh-manifestations-in-a-murine-model-of-munc13-4-deficiency
#2
Tayebeh Soheili, Amandine Durand, Fernando E Sepulveda, Julie Rivière, Chantal Lagresle-Peyrou, Hanem Sadek, Geneviève de Saint Basile, Samia Martin, Fulvio Mavilio, Marina Cavazzana, Isabelle André-Schmutz
Patients with mutations in the UNC13D gene (coding for Munc13-4 protein) suffer from familial hemophagocytic lymphohistiocytosis type 3 (FHL3), a life-threatening immune and hyperinflammatory disorder. The only curative treatment is allogeneic hematopoietic stem cell (HSC) transplantation, although the posttreatment survival rate is not satisfactory. Here, we demonstrate the curative potential of UNC13D gene correction of HSCs in a murine model of FHL3. We generated a self-inactivating lentiviral vector, used it to complement HSCs from Unc13d-deficient (Jinx) mice, and transplanted the cells back into the irradiated Jinx recipients...
December 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296722/proliferation-through-activation-hemophagocytic-lymphohistiocytosis-in-hematologic-malignancy
#3
REVIEW
Eric J Vick, Kruti Patel, Philippe Prouet, Mike G Martin
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of cytokine-driven immune activation. Cardinal features include fever, hemophagocytosis, hepatosplenomegaly, lymphocytic infiltration, and hypercytokinemia that result in multisystem organ dysfunction and failure. Familial HLH is genetically driven, whereas secondary HLH (SHL) is caused by drugs, autoimmune disease, infection, or cancer. SHL is associated with worse outcomes, with a median overall survival typically of less than 1 year. This reflects difficulty in both diagnostic accuracy and in establishing reliable treatments, especially in cases of malignancy-induced SHL, which have significantly worse outcomes...
May 9, 2017: Blood Advances
https://www.readbyqxmd.com/read/29258257/aetmyc1-the-candidate-gene-controlling-the-red-coleoptile-trait-in-aegilops-tauschii-coss-accession-as77
#4
Dong Cao, Guangji Ye, Yuan Zong, Bo Zhang, Wenjie Chen, Baolong Liu, Huaigang Zhang
The red coleoptile trait can help monocotyledonous plants withstand stresses, and key genes responsible for the trait have been isolated from Triticum aestivum, Triticum urartu, and Triticum monococcum, but no corresponding research has been reported for Aegilops tauschii. In this research, transcriptome analysis was performed to isolate the candidate gene controlling the white coleoptile trait in Ae. tauschii. There were 5348 upregulated, differentially-expressed genes (DEGs) and 4761 downregulated DEGs in red coleoptile vs...
December 18, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29207147/effect-and-mechanism-of-rnai-targeting-wwtr1-on-biological-activity-of-gastric-cancer-cells-sgc7901
#5
Yuan Li, Fang-Liang Yang, Chun-Fu Zhu, Li-Ming Tang
Gastric cancer (GC) is one of the most common malignancies in the world. It is essential to develop novel targets and therapeutic approaches for GC, which requires identification of novel functional molecules. WW‑domain containing transcription regulator 1 (WWTR1) may activate many transcriptional factors and exhibit an important role in the development of various tissues in mammals. The results of the present study demonstrated that mRNA and protein levels of WWTR1 are increased in GC tissues and cell lines...
December 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29197292/expression-and-regulation-of-inhibitor-of-dna-binding-proteins-id1-id2-id3-and-id4-at-the-maternal-conceptus-interface-in-pigs
#6
Jisoo Han, Heewon Seo, Yohan Choi, Choongdeok Lee, Meong Il Kim, Yubyeol Jeon, Joohyeong Lee, Minsun Hong, Sang-Hwan Hyun, Eunsong Lee, Hakhyun Ka
Inhibitor of DNA binding (ID) proteins, ID1, ID2, ID3, and ID4 are transcriptional regulators that have a helix-loop-helix (HLH) domain but not a basic DNA binding domain. ID proteins inhibit the functions of basic HLH transcription factors and regulate cell proliferation and differentiation. However, the expression and function of ID1, ID2, ID3, and ID4 at the maternal-conceptus interface are not fully understood in pigs. Therefore, we determined the expressions of ID1, ID2, ID3, and ID4 in porcine endometrium, conceptus, and chorioallantoic tissues...
November 29, 2017: Theriogenology
https://www.readbyqxmd.com/read/29194292/fetal-splenomegaly-a-review
#7
Marta Moreira, Rafael Brás, Daniela Gonçalves, Inês Alencoão, Gonçalo Inocêncio, Maria Rodrigues, Jorge Braga
Enlargement of the fetal spleen is usually found secondary to systemic diseases and is frequently associated with hepatomegaly. By far, the most common causes of fetal splenomegaly are infectious. Other etiologies responsible for this sign are hemolytic anemia, congestive cardiac failure, metabolic disorders, and rarely, leukemia, lymphoma, and histiocytosis.We report a case of prenatal splenomegaly diagnosed at 35 weeks, confirmed in the postnatal period. The postnatal workup showed the newborn had a familial type 3 form of hemophagocytic lymphohistiocytosis (HLH)...
November 29, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29181134/a-nine-month-old-boy-with-atypical-hemophagocytic-lymphohistiocytosis
#8
Monia Ouederni, Monia Ben Khaled, Samia Rekaya, Ilhem Ben Fraj, Fethi Mellouli, Mohamed Bejaoui
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes. Often, HLH is an acquired syndrome. We report a case of a nine month-old-boy presented with hepatosplenomegaly, severe anemia, thrombocytopenia, hypertriglyceridemia and high hyperferritinemia. These clinical features of HLH prompted a wide range of infectious and auto-immune tests to be performed. After an extensive diagnostic workup, he was referred to the immune-hematologic unit for HLH suspicion with an unknown cause...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29162540/genomic-analysis-of-nf-%C3%AE%C2%BAb-signaling-pathway-reveals-its-complexity-in-crassostrea-gigas
#9
Mingjia Yu, Jianming Chen, Yongbo Bao, Jun Li
NF-κB signaling pathway is an evolutionarily conserved pathway that plays highly important roles in several developmental, cellular and immune response processes. With the recent release of the draft Pacific oyster (Crassostra gigas) genome sequence, we have sought to identify the various components of the NF-κB signaling pathway in these mollusks and investigate their gene structure. We further constructed phylogenetic trees to establish the evolutionary relationship of the oyster proteins with their homologues in vertebrates and invertebrates using BLASTX and neighbor-joining method...
November 18, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29157204/characterization-of-a-novel-splicing-mutation-in-unc13d-gene-through-amplicon-sequencing-a-case-report-on-hlh
#10
Dongling Liu, Xijiang Hu, Xiwen Jiang, Bo Gao, Cheng Wan, Changying Chen
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP were reported as causative genes in most cases. CASE PRESENTATION: Here we report a novel splicing mutation in UNC13D gene, which was identified in an 18-year-old female. Patient was diagnosed as HLH base on HLH-2004 guidelines, no history of inherited diseases was revealed in this family, parents were healthy and non-consanguineous...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29130133/infusion-of-leukocytes-from-hla-haplo-identical-familial-donors-as-an-adjuvant-in-the-hlh-2004-protocol-to-treat-the-virus-associated-adult-hemophagocytic-lymphohistiocytosis-a-retrospective-study-of-26-patients
#11
Hui Zhang, Zhiming Dai, Nan Yang, Jin Wang, Aili He, Jianli Wang, Yang Zhang, Shan Meng, Baiyan Wang, Rong Sun, Wanggang Zhang
Adult hemophagocytic lymphohistiocytosis (HLH) is a fatal disease with poor survival and a limited role of drug therapies. To help to recognize virus and enhance survival, we infused leukocytes derived from human leukocyte antigen (HLA) haplo-identical familial donors to patients. We retrospectively investigated 26 adult virus-associated hemophagocytic syndrome (VAHS) patients' medical records from 2006-2017. Eleven of the 26 patients accepted relatives' derived leukocytes infusions in addition to drug therapies recommended in the HLH-2004 protocol...
November 12, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/29098410/comparative-proteomic-analysis-sclr-is-importantly-involved-in-carbohydrate-metabolism-in-aspergillus-oryzae
#12
Feng-Jie Jin, Pei Han, Miao Zhuang, Zhi-Min Zhang, Long Jin, Yasuji Koyama
The helix-loop-helix (HLH) family of transcriptional factors is a key player in a wide range of developmental processes in organisms from mammals to microbes. We previously identified the bHLH transcription factor SclR in Aspergillus oryzae and found that the loss of SclR function led to significant phenotypic changes, such as rapid protein degradation and cell lysis in dextrin-polypeptone-yeast extract liquid medium. The result implied that SclR is potentially important in both traditional fermentative manufacturing and commercial enzyme production in A...
November 2, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29036198/the-homeodomain-interacting-protein-kinase-hpk-1-preserves-protein-homeostasis-and-longevity-through-master-regulatory-control-of-the-hsf-1-chaperone-network-and-torc1-restricted-autophagy-in-caenorhabditis-elegans
#13
Ritika Das, Justine A Melo, Manjunatha Thondamal, Elizabeth A Morton, Adam B Cornwell, Beresford Crick, Joung Heon Kim, Elliot W Swartz, Todd Lamitina, Peter M Douglas, Andrew V Samuelson
An extensive proteostatic network comprised of molecular chaperones and protein clearance mechanisms functions collectively to preserve the integrity and resiliency of the proteome. The efficacy of this network deteriorates during aging, coinciding with many clinical manifestations, including protein aggregation diseases of the nervous system. A decline in proteostasis can be delayed through the activation of cytoprotective transcriptional responses, which are sensitive to environmental stress and internal metabolic and physiological cues...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28935695/confirmed-efficacy-of-etoposide-and-dexamethasone-in-hlh-treatment-long-term-results-of-the-cooperative-hlh-2004-study
#14
Elisabet Bergsten, AnnaCarin Horne, Maurizio Aricó, Itziar Astigarraga, R Maarten Egeler, Alexandra H Filipovich, Eiichi Ishii, Gritta Janka, Stephan Ladisch, Kai Lehmberg, Kenneth L McClain, Milen Minkov, Scott Montgomery, Vasanta Nanduri, Diego Rosso, Jan-Inge Henter
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome comprising familial/genetic HLH (FHL) and secondary HLH. In the HLH-94 study, with an estimated 5-year probability of survival (pSu) of 54% (95% confidence interval, 48%-60%), systemic therapy included etoposide, dexamethasone, and, from week 9, cyclosporine A (CSA). Hematopoietic stem cell transplantation (HSCT) was indicated in patients with familial/genetic, relapsing, or severe/persistent disease. In HLH-2004, CSA was instead administered upfront, aiming to reduce pre-HSCT mortality and morbidity...
December 21, 2017: Blood
https://www.readbyqxmd.com/read/28871438/the-structure-splicing-synteny-and-expression-of-lamprey-coe-genes-and-the-evolution-of-the-coe-gene-family-in-chordates
#15
Ricardo Lara-Ramírez, Guillaume Poncelet, Cédric Patthey, Sebastian M Shimeld
COE genes encode transcription factors that have been found in all metazoans examined to date. They possess a distinctive domain structure that includes a DNA-binding domain (DBD), an IPT/TIG domain and a helix-loop-helix (HLH) domain. An intriguing feature of the COE HLH domain is that in jawed vertebrates it is composed of three helices, compared to two in invertebrates. We report the isolation and expression of two COE genes from the brook lamprey Lampetra planeri and compare these to COE genes from the lampreys Lethenteron japonicum and Petromyzon marinus...
September 2017: Development Genes and Evolution
https://www.readbyqxmd.com/read/28848550/late-onset-non-hlh-presentations-of-growth-arrest-inflammatory-arachnoiditis-and-severe-infectious-mononucleosis-in-siblings-with-hypomorphic-defects-in-unc13d
#16
Paul Edgar Gray, Bella Shadur, Susan Russell, Richard Mitchell, Michael Buckley, Kerri Gallagher, Ian Andrews, Kevin Thia, Joseph A Trapani, Edwin Philip Kirk, Ilia Voskoboinik
Bi-allelic null mutations affecting UNC13D, STXBP2, or STX11 result in defects of lymphocyte cytotoxic degranulation and commonly cause familial hemophagocytic lymphohistiocytosis (FHL) in early life. Patients with partial loss of function are increasingly being diagnosed after presenting with alternative features of this disease, or with HLH later in life. Here, we studied two sisters with lymphocyte degranulation defects secondary to compound heterozygote missense variants in UNC13D. The older sibling presented aged 11 with linear growth arrest and delayed puberty, 2 years prior to developing transient ischemic attacks secondary to neuroinflammation and hypogammaglobulinemia, but no FHL symptoms...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28806468/an-overview-of-hemophagocytic-lymphohistiocytosis
#17
Ysabella M Esteban, Jill L O de Jong, Melissa S Tesher
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome characterized by a dysregulated hyperinflammatory response associated with aberrant activation of lymphocytes and macrophages that results in hypercytokinemia. It is classically divided into two types: (1) primary or familial HLH and (2) secondary HLH. Familial HLH is generally an autosomal recessive condition, whereas secondary HLH is usually associated with infectious diseases, autoinflammatory and autoimmune diseases (where it is more commonly known as macrophage activation syndrome), malignancy, immunosuppression, hematopoietic stem cell transplantation, organ transplantation, HIV infection, and metabolic diseases...
August 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28793334/spheroid-growth-in-ovarian-cancer-alters-transcriptome-responses-for-stress-pathways-and-epigenetic-responses
#18
Trillitye Paullin, Chase Powell, Christopher Menzie, Robert Hill, Feng Cheng, Christopher J Martyniuk, Sandy D Westerheide
Ovarian cancer is the most lethal gynecological cancer, with over 200,000 women diagnosed each year and over half of those cases leading to death. These poor statistics are related to a lack of early symptoms and inadequate screening techniques. This results in the cancer going undetected until later stages when the tumor has metastasized through a process that requires the epithelial to mesenchymal transition (EMT). In lieu of traditional monolayer cell culture, EMT and cancer progression in general is best characterized through the use of 3D spheroid models...
2017: PloS One
https://www.readbyqxmd.com/read/28692549/a-case-of-familial-hemophagocytic-lymphohistiocytosis-type-4-with-involvement-of-the-central-nervous-system-complicated-with-infarct
#19
Saliha Ciraci, Alper Ozcan, Mustafa M Ozdemir, Samuel C C Chiang, Bianca Tesi, Akif M Ozdemir, Musa Karakukcu, Turkan Patiroglu, Can Acipayam, Selim Doganay, Hakan Gumus, Ekrem Unal
BACKGROUND: Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. METHOD: We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit...
August 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28666847/eicosapentaenoic-acid-modulates-the-synergistic-action-of-creb1-and-id-e2a-family-members-in-the-rat-pup-brain-and-mouse-embryonic-stem-cells
#20
Maurizio Rossi, Martin Spichty, Lucilla Attorri, Chiara Distante, Clara Nervi, Serafina Salvati, Luigi Vitelli
The aim of this study was to investigate the molecular mechanism by which eicosapentaenoic acid (EPA) may exert neuroprotective effects through an "EPA-cyclic AMP response element-binding protein (CREB)" signaling pathway. The current study reveals that EPA modulates the exquisite interplay of interaction of CREB1 with the inhibitor of DNA binding (ID) and E2A family members, thereby delivering mechanistic insights into specific neural differentiation program. In this scenario, our work provides evidence for the capability of CREB1 to sequester ID:E2A family members in brain tissues and neural differentiating mouse embryonic stem cells (mESCs) through formation of a [CREB1]2:ID2:E47 tetrameric complex...
August 2017: Biochimica et Biophysica Acta
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