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Familial HLH

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https://www.readbyqxmd.com/read/29750741/hemophagocytic-lymphohystiocytosis-associated-with-type-ia-glycogen-storage-disease
#1
Yeter Düzenli Kar, Zeynep C Özdemir, Eylem Kiral, Gonca Kiliç Yildirim, Ener Ç Dinleyici, Özcan Bör
BACKGROUND: Hemophagocytic lymphohystiocytosis (HLH) is characterized by fever, splenomegaly, pancytopenia, and elevated levels of triglycerides and ferritin. These signs and symptoms are common to other metabolic diseases. OBSERVATION: A 5-month-old female infant, who presented with fever, respiratory distress, massive hepatomegaly, and bicytopenia, was diagnosed as having HLH and chemotherapy was initiated. The patient was negative for familial HLH gene mutations...
May 10, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29695416/deletion-of-inflammasome-components-is-not-sufficient-to-prevent-fatal-inflammation-in-models-of-familial-hemophagocytic-lymphohistiocytosis
#2
Sébastien Fauteux-Daniel, Sébastien Viel, Laurie Besson, Jiang Zhang, Marie Marotel, Anne-Laure Mathieu, Rémi Pescarmona, Emily Charrier, Thomas Henry, Alexandre Belot, Thierry Walzer
Hemophagocytic lymphohistiocytosis (HLH) is a severe inflammatory condition that occurs in patients with genetic defects of cytotoxicity (familial HLH [FHL]) or secondary to other immunological disorders such as juvenile idiopathic arthritis. HLH is characterized by elevated levels of serum IL-18 and other cytokines. Moreover, a novel clinical entity has been recently identified in which constitutive NLRC4 inflammasome activation leads to severe HLH. Altogether, these clinical observations suggest that inflammasome activation is a central event in the development of all HLH forms and that inflammasome blockade could alleviate inflammation in FHL patients...
April 25, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29670631/x-linked-lymphoproliferative-disease-type-1-a-clinical-and-molecular-perspective
#3
REVIEW
Neelam Panchal, Claire Booth, Jennifer L Cannons, Pamela L Schwartzberg
X-linked lymphoproliferative disease (XLP) was first described in the 1970s as a fatal lymphoproliferative syndrome associated with infection with Epstein-Barr virus (EBV). Features include hemophagocytic lymphohistiocytosis (HLH), lymphomas, and dysgammaglobulinemias. Molecular cloning of the causative gene, SH2D1A , has provided insight into the nature of disease, as well as helped characterize multiple features of normal immune cell function. Although XLP type 1 (XLP1) provides an example of a primary immunodeficiency in which patients have problems clearing primarily one infectious agent, it is clear that XLP1 is also a disease of severe immune dysregulation, even independent of EBV infection...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29563683/hemophagocytic-lymphohistiocytosis-in-an-infant-with-multiple-triggers
#4
Sataroopa Mishra, Amitabh Singh, Lavleen Singh, Anirban Mandal, Rahul Jain
Hemophagocytic lymphohistiocytosis (HLH) is a disorder of immune dysregulation secondary to a massive unregulated cytokine storm and its downstream consequences. HLH is being increasingly recognized as a cause of pyrexia of unknown origin, unexplained cytopenias, and hepatic dysfunction. However, this potentially treatable condition is often missed due to lack of suspicion, variable, and nonspecific presentations, inability to fulfil all the diagnostic criteria and availability of diagnostic tests in resource limited settings...
January 2018: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/29549174/human-ctl-based-functional-analysis-shows-the-reliability-of-a-munc13-4-protein-expression-assay-for-fhl3-diagnosis
#5
Hirofumi Shibata, Takahiro Yasumi, Saeko Shimodera, Eitaro Hiejima, Kazushi Izawa, Tomoki Kawai, Ryutaro Shirakawa, Taizo Wada, Ryuta Nishikomori, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, Toshio Heike
Familial hemophagocytic lymphohistiocytosis (FHL) is the major form of hereditary hemophagocytic lymphohistiocytosis (HLH); as such, it requires prompt and accurate diagnosis. We previously reported that FHL type 3 (FHL3) can be rapidly screened by detecting munc13-4 expression in platelets using flow cytometry; however, the reliability of the munc13-4 expression assay for FHL3 diagnosis is unclear. Regardless of the type of UNC13D mutation, all reported FHL3 cases examined for the munc13-4 protein showed significantly reduced expression...
May 3, 2018: Blood
https://www.readbyqxmd.com/read/29420734/convergent-pathways-of-the-hyperferritinemic-syndromes
#6
Grant S Schulert, Scott W Canna
Hyperferritinemia and pronounced hemophagocytosis help distinguish a subset of patients with a particularly inflammatory and deadly systemic inflammatory response syndrome. Two clinically similar disorders typify these hyperferritinemic syndromes: hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS). HLH is canonically associated with a complete disturbance of perforin/granzyme-mediated cytotoxicity, whereas MAS occurs in the context of the related rheumatic diseases systemic juvenile idiopathic arthritis and adult-onset Still's disease, with associated IL-1 family cytokine activation...
April 25, 2018: International Immunology
https://www.readbyqxmd.com/read/29410181/outcomes-of-children-with-hemophagocytic-lymphohistiocytosis-given-allogeneic-hematopoietic-stem-cell-transplantation-in-italy
#7
Chiara Messina, Marco Zecca, Franca Fagioli, Attilio Rovelli, Stefano Giardino, Pietro Merli, Fulvio Porta, Maurizio Aricò, Elena Sieni, Giuseppe Basso, Mimmo Ripaldi, Claudio Favre, Marta Pillon, Antonio Marzollo, Marco Rabusin, Simone Cesaro, Mattia Algeri, Maurizio Caniglia, Paolo Di Bartolomeo, Ottavio Ziino, Francesco Saglio, Arcangelo Prete, Franco Locatelli
We report on 109 patients with hemophagocytic lymphohistiocytosis (HLH) undergoing 126 procedures of allogeneic hematopoietic stem cell transplantation (HSCT) between 2000 and 2014 in centers associated with the Italian Pediatric Hematology Oncology Association. Genetic diagnosis was FHL2 (32%), FHL3 (33%), or other defined disorders known to cause HLH (15%); in the remaining patients no genetic abnormality was found. Donor for first transplant was an HLA-matched sibling for 25 patients (23%), an unrelated donor for 73 (67%), and an HLA-partially matched family donor for 11 children (10%)...
February 2, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29409136/novel-unc13d-intronic-variant-disrupting-a-nf%C3%AE%C2%BAb-enhancer-in-a-patient-with-recurrent-macrophage-activation-syndrome-and-systemic-juvenile-idiopathic-arthritis
#8
Grant S Schulert, Mingce Zhang, Ammar Husami, Ndate Fall, Hermine Brunner, Kejian Zhang, Randy Q Cron, Alexei A Grom
OBJECTIVE: Macrophage activation syndrome (MAS) is a life-threatening complication of systemic juvenile idiopathic arthritis (SJIA), and has pathologic similarity to hemophagocytic lymphohistiocytosis (HLH). Intronic variants in UNC13D are found in patients with familial HLH-3 (FHL3), but the role of non-coding variants in MAS is unknown. The objective of this study was to identify deep intronic UNC13D variants in patients with MAS. METHODS: A custom enrichment library was constructed to sequence approximately 1 MB flanking UNC13D in 24 patients with SJIA, recurrent MAS, and negative prior genetic (exon/coding) testing...
February 6, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29378820/genetic-loci-controlling-carotenoid-biosynthesis-in-diverse-tropical-maize-lines
#9
Girum Azmach, Abebe Menkir, Charles Spillane, Melaku Gedil
The discovery and use of genetic markers associated with carotenoid levels can help to exploit the genetic potential of maize for provitamin A accumulation more effectively. Provitamin A carotenoids are classes of carotenoids that are precursors of vitamin A, an essential micronutrient in humans. Vitamin A deficiency is a global public health problem affecting millions of people, especially in developing countries. Maize is one of the most important staple crops targeted for provitamin A biofortification to help alleviate vitamin A deficiency in developing countries...
March 2, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29357941/primary-hemophagocytic-lymphohistiocytosis-in-adults-the-utility-of-family-surveys-in-a-single-center-study-from-china
#10
Zhili Jin, Yini Wang, Jingshi Wang, Jia Zhang, Lin Wu, Zhuo Gao, Wenyuan Lai, Zhao Wang
BACKGROUND: This study investigated the clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH) in adults, including immunological markers, pedigree findings, and conditions of allogeneic hematopoietic stem cell transplantation (Allo-HSCT). METHODS: The study included clinical data of 18 adult patients with primary HLH treated in our center from June 2010 to January 2017. RESULTS: Of these 18 cases, pathogenic variants were found in the following genes: PRF1 (n = 11), UNC13D (n = 5), SH2D1A (n = 2), RAB27a (n = 1), and LYST (n = 2)...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29355678/t-cell-gene-therapy-for-perforin-deficiency-corrects-cytotoxicity-defects-and-prevents-hemophagocytic-lymphohistiocytosis-manifestations
#11
Sujal Ghosh, Marlene Carmo, Miguel Calero-Garcia, Ida Ricciardelli, Juan Carlos Bustamante Ogando, Michael P Blundell, Axel Schambach, Philip G Ashton-Rickardt, Claire Booth, Stephan Ehl, Kai Lehmberg, Adrian J Thrasher, H Bobby Gaspar
BACKGROUND: Mutations in the perforin 1 (PRF1) gene account for up to 58% of familial hemophagocytic lymphohistiocytosis syndromes. The resulting defects in effector cell cytotoxicity lead to hypercytokinemia and hyperactivation with inflammation in various organs. OBJECTIVE: We sought to determine whether autologous gene-corrected T cells can restore cytotoxic function, reduce disease activity, and prevent hemophagocytic lymphohistiocytosis (HLH) symptoms in in vivo models...
January 31, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29326099/interleukin-18-diagnostically-distinguishes-and-pathogenically-promotes-human-and-murine-macrophage-activation-syndrome
#12
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. Although 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-18 (IL-18)...
March 29, 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
#13
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
#14
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
#15
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
#16
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...
February 2018: 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
#17
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...
March 1, 2018: Theriogenology
https://www.readbyqxmd.com/read/29194292/fetal-splenomegaly-a-review
#18
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)...
March 2018: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29181134/a-nine-month-old-boy-with-atypical-hemophagocytic-lymphohistiocytosis
#19
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
#20
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...
January 2018: Fish & Shellfish Immunology
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