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severe combined immune deficiency

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https://www.readbyqxmd.com/read/29772310/recombination-activity-of-human-rag2-mutations-and-correlation-with-the-clinical-phenotype
#1
Irit Tirosh, Yasuhiro Yamazaki, Francesco Frugoni, Francesca A Ververs, Eric J Allenspach, Yu Zhang, Siobhan Burns, Waleed Al-Herz, Lenora Noroski, Jolan E Walter, Andrew R Gennery, Mirjam van der Burg, Luigi D Notarangelo, Yu Nee Lee
BACKGROUND: Mutations in the Recombinase Activating Gene 1 and 2 (RAG1, RAG2) are associated with a broad range of clinical and immunological phenotypes in humans. OBJECTIVE: Using a flow cytometry-based assay, we aimed to measure the recombinase activity of naturally occurring RAG2 mutant proteins, and to correlate results with the severity of the clinical and immunological phenotype. METHODS: Abelson virus-transformed Rag2-/- pro-B cells engineered to contain an inverted GFP cassette flanked by recombination signal sequences (RSS) were transduced with retroviruses encoding either wild-type or 41 naturally occurring RAG2 variants...
May 14, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29765774/how-shall-we-treat-early-triple-negative-breast-cancer-tnbc-from-the-current-standard-to-upcoming-immuno-molecular-strategies
#2
REVIEW
Ji Hyun Park, Jin-Hee Ahn, Sung-Bae Kim
Triple-negative breast cancer (TNBC) is a long-lasting orphan disease in terms of little therapeutic progress during the past several decades and still the standard of care remains chemotherapy. Experimental discovery of molecular signatures including the 'BRCAness' highlighted the innate heterogeneity of TNBC, generating the diversity of TNBC phenotypes. As it contributes to enhancing genomic instability, it has widened the therapeutic spectrum of TNBC. In particular, unusual sensitivity to DNA damaging agents was denoted in patients with BRCA deficiency, suggesting therapeutic benefit from platinum and poly(ADP-ribose) polymerase inhibitors...
2018: ESMO Open
https://www.readbyqxmd.com/read/29754190/allergic-and-immunologic-perspectives-of-inflammatory-bowel-disease
#3
REVIEW
Kofi Clarke, Jayakrishna Chintanaboina
Inflammatory bowel disease (IBD) is a chronic immune-mediated inflammatory condition primarily involving the gastrointestinal tract. It includes Crohn's disease (CD), ulcerative colitis (UC), and a less common phenotype-indeterminate colitis. It is thought to result from a complex interplay of environmental, microbial, and host factors including genetic factors, although the exact mechanism is not known. Dietary factors have been shown to play a role in the pathogenesis of IBD and can potentially alter the intestinal microbiota as well as disrupt the immune function in the gut...
May 12, 2018: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/29717931/-re-generating-human-beta-cells-status-pitfalls-and-perspectives
#4
Luc Baeyens, Marie Lemper, Willem Staels, Sofie De Groef, Nico De Leu, Yves Heremans, Michael S German, Harry Heimberg
Diabetes mellitus results from disturbed glucose homeostasis due to an absolute (type 1) or relative (type 2) deficiency of insulin, a peptide hormone almost exclusively produced by the beta cells of the endocrine pancreas in a tightly regulated manner. Current therapy only delays disease progression through insulin injection and/or oral medications that increase insulin secretion or sensitivity, decrease hepatic glucose production, or promote glucosuria. These drugs have turned diabetes into a chronic disease as they do not solve the underlying beta cell defects or entirely prevent the long-term complications of hyperglycemia...
July 1, 2018: Physiological Reviews
https://www.readbyqxmd.com/read/29707600/preclinical-development-of-a-lentiviral-vector-for-gene-therapy-of-x-linked-severe-combined-immunodeficiency
#5
Valentina Poletti, Sabine Charrier, Guillaume Corre, Bernard Gjata, Alban Vignaud, Fang Zhang, Michael Rothe, Axel Schambach, H Bobby Gaspar, Adrian J Thrasher, Fulvio Mavilio
X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations in the interleukin-2 receptor γ chain gene (IL2RG), and it is characterized by profound defects in T, B, and natural killer (NK) cell functions. Transplantation of hematopoietic stem/progenitor cells (HSPCs) genetically corrected with early murine leukemia retrovirus (MLV)-derived gammaretroviral vectors showed restoration of T cell immunity in patients, but it resulted in vector-induced insertional oncogenesis. We developed a self-inactivating (SIN) lentiviral vector carrying a codon-optimized human IL2RG cDNA driven by the EF1α short promoter (EFS-IL2RG), and we tested its efficacy and safety in vivo by transplanting transduced Il2rg-deficient Lin- HSPCs in an Il2rg -/- / Rag2 -/- mouse model...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29695863/lubac-is-essential-for-embryogenesis-by-preventing-cell-death-and-enabling-haematopoiesis
#6
Nieves Peltzer, Maurice Darding, Antonella Montinaro, Peter Draber, Helena Draberova, Sebastian Kupka, Eva Rieser, Amanda Fisher, Ciaran Hutchinson, Lucia Taraborrelli, Torsten Hartwig, Elodie Lafont, Tobias L Haas, Yutaka Shimizu, Charlotta Böiers, Aida Sarr, James Rickard, Silvia Alvarez-Diaz, Michael T Ashworth, Allison Beal, Tariq Enver, John Bertin, William Kaiser, Andreas Strasser, John Silke, Philippe Bouillet, Henning Walczak
The linear ubiquitin chain assembly complex (LUBAC) is required for optimal gene activation and prevention of cell death upon activation of immune receptors, including TNFR1 1 . Deficiency in the LUBAC components SHARPIN or HOIP in mice results in severe inflammation in adulthood or embryonic lethality, respectively, owing to deregulation of TNFR1-mediated cell death2-8 . In humans, deficiency in the third LUBAC component HOIL-1 causes autoimmunity and inflammatory disease, similar to HOIP deficiency, whereas HOIL-1 deficiency in mice was reported to cause no overt phenotype9-11 ...
May 2018: Nature
https://www.readbyqxmd.com/read/29690908/adenosine-deaminase-deficiency-a-review
#7
REVIEW
Aisling M Flinn, Andrew R Gennery
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency. Whilst most notable affects are on lymphocytes, other manifestations include skeletal abnormalities, neurodevelopmental affects and pulmonary manifestations associated with pulmonary-alveolar proteinosis. Affected patients present in early infancy, usually with persistent infection, or with pulmonary insufficiency...
April 24, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29684201/dysregulation-of-epstein-barr-virus-infection-in-hypomorphic-zap70-mutation
#8
Akihiro Hoshino, Takehiro Takashima, Kenichi Yoshida, Akira Morimoto, Yuta Kawahara, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Noriko Mitsuiki, Kohsuke Imai, Takashi Sakatani, Atsuko Nakazawa, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Hirokazu Kanegane
Background: Some patients with genetic defects develop Epstein-Barr virus (EBV)-associated lymphoproliferative disorder (LPD)/lymphoma as the main feature. Hypomophic mutations can cause different clinical and laboratory manifestations from null mutations in the same genes. Methods: We sought to describe the clinical and immunologic phenotype of a 21-month-old boy having EBV-associated LPD who was in good health till then. A genetic and immunologic analysis was performed...
April 19, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29675923/latent-therapeutic-demand-model-for-the-immunoglobulin-replacement-therapy-of-primary-immune-deficiency-disorders-in-the-usa
#9
J S Stonebraker, J Hajjar, J S Orange
BACKGROUND AND OBJECTIVES: Our research aim is to model latent therapeutic demand (LTD) for the immunoglobulin replacement therapy (IgGRT) of primary immune deficiency disorders (PIDDs) in the USA. Given the high level of variability of IgGRT use and major differences among American and European practices in the management of patients with PIDDs, we develop a USA-specific LTD model for common variable immune deficiency (CVID), hyper IGM syndrome, severe combined immune deficiency, Wiskott-Aldrich syndrome and X-linked agammaglobulinemia (XLA)...
April 20, 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29672197/inflammasomes-make-the-case-for-littermate-controlled-experimental-design-in-studying-host-microbiota-interactions
#10
Michail Mamantopoulos, Francesca Ronchi, Kathy D McCoy, Andy Wullaert
Several human diseases are thought to evolve due to a combination of host genetic mutations and environmental factors that include alterations in intestinal microbiota composition termed dysbiosis. Although in some cases, host genetics may shape the gut microbiota and enable it to provoke disease, experimentally disentangling cause and consequence in such host-microbe interactions requires strict control over non-genetic confounding factors. Mouse genetic studies previously proposed Nlrp6/ASC inflammasomes as innate immunity regulators of the intestinal ecosystem...
April 19, 2018: Gut Microbes
https://www.readbyqxmd.com/read/29593721/vitamin-d-in-human-immunodeficiency-virus-infection-influence-on-immunity-and-disease
#11
REVIEW
María Ángeles Jiménez-Sousa, Isidoro Martínez, Luz María Medrano, Amanda Fernández-Rodríguez, Salvador Resino
People living with human immunodeficiency virus (HIV) infection typically have hypovitaminosis D, which is linked to a large number of pathologies, including immune disorders and infectious diseases. Vitamin D (VitD) is a key regulator of host defense against infections by activating genes and pathways that enhance innate and adaptive immunity. VitD mediates its biological effects by binding to the Vitamin D receptor (VDR), and activating and regulating multiple cellular pathways. Single nucleotide polymorphisms in genes from those pathways have been associated with protection from HIV-1 infection...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29552172/effects-of-nvp-bez235-a-dual-phosphatidylinositol-3-kinase-mammalian-target-of-rapamycin-inhibitor-on-htlv-1-infected-t-cell-lines
#12
Chie Ishikawa, Masachika Senba, Naoki Mori
Adult T-cell leukemia (ATL) is an aggressive type of malignancy caused by human T-cell leukemia virus type 1 (HTLV-1). In ATL, the phosphatidylinositol 3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) signaling pathway is constitutively active, promoting cell proliferation, survival and chemoresistance. Thus, the PI3K signaling pathway is an attractive therapeutic target for ATL. In the present study, the effects of RAD001 (an mTOR inhibitor), NVP-BKM120 (a pan-PI3K inhibitor) and NVP-BEZ235 (a novel dual PI3K/mTOR inhibitor) on cultured HTLV-1-infected T-cell lines were compared...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29547639/interleukin-4-activated-macrophages-mediate-immunity-to-filarial-helminth-infection-by-sustaining-ccr3-dependent-eosinophilia
#13
Joseph D Turner, Nicolas Pionnier, Julio Furlong-Silva, Hanna Sjoberg, Stephen Cross, Alice Halliday, Ana F Guimaraes, Darren A N Cook, Andrew Steven, Nico Van Rooijen, Judith E Allen, Stephen J Jenkins, Mark J Taylor
Eosinophils are effectors in immunity to tissue helminths but also induce allergic immunopathology. Mechanisms of eosinophilia in non-mucosal tissues during infection remain unresolved. Here we identify a pivotal function of tissue macrophages (Mϕ) in eosinophil anti-helminth immunity using a BALB/c mouse intra-peritoneal Brugia malayi filarial infection model. Eosinophilia, via C-C motif chemokine receptor (CCR)3, was necessary for immunity as CCR3 and eosinophil impairments rendered mice susceptible to chronic filarial infection...
March 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29527204/clinical-immunological-and-molecular-findings-in-five-patients-with-major-histocompatibility-complex-class-ii-deficiency-from-india
#14
Jahnavi Aluri, Maya Gupta, Aparna Dalvi, Snehal Mhatre, Manasi Kulkarni, Gouri Hule, Mukesh Desai, Nitin Shah, Prasad Taur, Ramprasad Vedam, Manisha Madkaikar
Major histocompatibility complex (MHC) class II deficiency is a rare autosomal recessive form of primary immunodeficiency disorder (PID) characterized by the deficiency of MHC class II molecules. This deficiency affects the cellular and humoral immune response by impairing the development of CD4+ T helper (Th) cells and Th cell-dependent antibody production by B cells. Affected children typically present with severe respiratory and gastrointestinal tract infections. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy available for treating these patients...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29522649/integrity-of-ikk-nf-%C3%AE%C2%BAb-shields-thymic-stroma-that-suppresses-susceptibility-to-autoimmunity-fungal-infection-and-carcinogenesis
#15
Feng Zhu, Yinling Hu
A pathogenic connection between autoreactive T cells, fungal infection, and carcinogenesis has been demonstrated in studies of human autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) as well as in a mouse model in which kinase-dead Ikkα knock-in mice develop impaired central tolerance, autoreactive T cell-mediated autoimmunity, chronic fungal infection, and esophageal squamous cell carcinoma, which recapitulates APECED. IκB kinase α (IKKα) is one subunit of the IKK complex required for NF-κB activation...
April 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29520270/a-novel-role-for-c5a-in-b-1-cell-homeostasis
#16
Katharina Bröker, Julia Figge, Albert F Magnusen, Rudolf A Manz, Jörg Köhl, Christian M Karsten
B-1 cells constitute a unique subpopulation of lymphocytes residing mainly in body cavities like the peritoneal cavity (PerC) but are also found in spleen and bone marrow (BM). As innate-like B cells, they mediate first line immune defense through low-affinity natural IgM (nIgM) antibodies. PerC B-1 cells can egress to the spleen and differentiate into nIgM antibody-secreting plasma cells that recognize conserved exogenous and endogenous cellular structures. Homing to and homeostasis within the PerC are regulated by the chemokine CXCL13 released by PerC macrophages and stroma cells...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29518828/-clinical-characteristics-of-human-recombination-activating-gene-1-mutations-in-8-immunodeficiency-patients-with-diverse-phenotypes
#17
G Yu, W J Wang, D R Liu, Z F Tao, X Y Hui, J Hou, J Q Sun, X C Wang
Objective: To investigate the clinical characteristics of 8 immunodeficiency cases caused by human recombination activating gene 1 (RAG1) mutations, and to explore the relationship among genotypes, clinical manifestations and immunophenotypes. Methods: Clinical data were collected and analyzed from patients with RAG1 mutations who visited the Department of Clinical Immunology, Children's Hospital of Fudan University between October 2013 and June 2017. The data included clinical manifestations, immunophenotypes and genotypes...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29497932/in-the-search-for-reliable-biomarkers-for-the-early-diagnosis-of-autism-spectrum-disorder-the-role-of-vitamin-d
#18
Afaf El-Ansary, John J Cannell, Geir Bjørklund, Ramesa Shafi Bhat, Abeer M Al Dbass, Hanan A Alfawaz, Salvatore Chirumbolo, Laila Al-Ayadhi
Autism spectrum disorder (ASD) affects about 1% of the world's population. Vitamin D is thought to be essential for normal brain development and modulation of the immune system. Worldwide about 1 billion people are affected by vitamin D deficiency. High-sensitivity C-reactive protein (hs-CRP), cytochrome P450 2E1 (CYP2E1) and 8-hydroxy-2'-deoxyguanosine (8-OH-dG) are biomarkers related to inflammation and oxidative stress. In the present study, these biomarkers were together with serum 25-hydroxyvitamin D (25(OH)D3 ) analyzed in 28 (mean age seven years) Saudi male patients with ASD...
March 1, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29471676/results-and-challenges-of-immune-checkpoint-inhibitors-in-colorectal-cancer
#19
Sheik Emambux, Gaelle Tachon, Audelaure Junca, David Tougeron
Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide and clinical outcome has improved substantially during the last two decades with targeted therapies. The immune system has a major role in cancers, especially the CD8 + T cells specific to tumor antigens. However, tumors can escape immune response by different mechanisms including upregulation of inhibitory immune checkpoint receptors, such as well-known Programmed cell Death protein-1 (PD-1)/Programmed cell Death Ligand 1 (PD-L1) interaction, leading CD8 + T cells to a state of anergy...
February 28, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29456531/first-occurrence-of-plasmablastic-lymphoma-in-adenosine-deaminase-deficient-severe-combined-immunodeficiency-disease-patient-and-review-of-the-literature
#20
Maddalena Migliavacca, Andrea Assanelli, Maurilio Ponzoni, Roberta Pajno, Federica Barzaghi, Fabio Giglio, Francesca Ferrua, Marta Frittoli, Immacolata Brigida, Francesca Dionisio, Roberto Nicoletti, Miriam Casiraghi, Maria Grazia Roncarolo, Claudio Doglioni, Jacopo Peccatori, Fabio Ciceri, Maria Pia Cicalese, Alessandro Aiuti
Adenosine deaminase-deficient severe combined immunodeficiency disease (ADA-SCID) is a primary immune deficiency characterized by mutations in the ADA gene resulting in accumulation of toxic compounds affecting multiple districts. Hematopoietic stem cell transplantation (HSCT) from a matched donor and hematopoietic stem cell gene therapy are the preferred options for definitive treatment. Enzyme replacement therapy (ERT) is used to manage the disease in the short term, while a decreased efficacy is reported in the medium-long term...
2018: Frontiers in Immunology
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