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primary immunodeficiencies

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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
#1
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
https://www.readbyqxmd.com/read/29455848/caveolin-1-the-unnoticed-player-in-tcr-and-bcr-signaling
#2
Gina J Fiala, Susana Minguet
T and B lymphocytes are key players of the adaptive immune system. They recognize pathogenic cues via the T cell antigen receptor (TCR) and the B cell antigen receptor (BCR) to get activated and execute their protective function. TCR and BCR signaling are initiated at the plasma membrane and subsequently propagated into the cell, ultimately leading to cell activation and a protective immune response. However, inappropriate activation of T and B cells can be detrimental to the host resulting in autoimmune disorders, immunodeficiencies, and cancer...
2018: Advances in Immunology
https://www.readbyqxmd.com/read/29455639/role-of-bruton-s-tyrosine-kinase-in-b-cells-and-malignancies
#3
REVIEW
Simar Pal Singh, Floris Dammeijer, Rudi W Hendriks
Bruton's tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary immunodeficiency X-linked agammaglobulinemia (XLA) and is essential both for B cell development and function of mature B cells. Shortly after its discovery, BTK was placed in the signal transduction pathway downstream of the B cell antigen receptor (BCR). More recently, small-molecule inhibitors of this kinase have shown excellent anti-tumor activity, first in animal models and subsequently in clinical studies...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29454632/a-case-of-epstein-barr-virus-negative-human-immunodeficiency-virus-related-primary-effusion-lymphoma
#4
Shinichiro Ota, Yuji Fujikura, Takayuki Yamamoto, Yohei Maki, Atsushi Kurokawa, Takuya Maeda, Soichiro Kanoh, Akihiko Kawana
Primary effusion lymphoma (PEL) is a rare subtype of large B-cell lymphoma associated with human herpesvirus-8. Most cases are co-infected with Epstein-Barr virus (EBV). The prognosis of PEL is extremely poor and no optimal treatment regimen has been established. We report a case of EBV-negative PEL in a 49-year-old human immunodeficiency virus-positive man, presenting with massive bilateral pleural effusion.
February 14, 2018: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29453744/low-serum-ige-is-a-sensitive-and-specific-marker-for-common-variable-immunodeficiency-cvid
#5
Monica G Lawrence, Thamiris V Palacios-Kibler, Lisa J Workman, Alexander J Schuyler, John W Steinke, Spencer C Payne, Emily C McGowan, James Patrie, Ramsay L Fuleihan, Kathleen E Sullivan, Patricia L Lugar, Camellia L Hernandez, Douglas E Beakes, James W Verbsky, Thomas A E Platts-Mills, Charlotte Cunningham-Rundles, John M Routes, Larry Borish
Although small prior studies have suggested that IgE can be low in common variable immunodeficiency (CVID), the workup for patients with recurrent infections and suspected hypogammaglobulinemia does not include the routine measurement of serum IgE. We sought to test the hypothesis that low/undetectable serum IgE is characteristic of CVID by comparing the frequency of low/undetectable serum IgE in healthy controls and patients with CVID. We measured total serum IgE in a large multi-center cohort of patients with CVID (n = 354) and compared this to large population-based cohorts of children and adults...
February 17, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29452225/seminars-in-cell-and-developmental-biology-human-dendritic-cell-immunodeficiencies
#6
REVIEW
Venetia Bigley, Urszula Cytlak, Matthew Collin
The critical functions of dendritic cells (DCs) in immunity and tolerance have been demonstrated in many animal models but their non-redundant roles in humans are more difficult to probe. Human primary immunodeficiency (PID), resulting from single gene mutations, may result in DC deficiency or dysfunction. This relatively recent recognition illuminates the in vivo role of human DCs and the pathophysiology of the associated clinical syndromes. In this review, the development and function of DCs as established in murine models and human in vitro systems, is discussed...
February 13, 2018: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/29448016/intestinal-immunity-suppresses-carrying-capacity-of-rats-for-the-model-tapeworm-hymenolepis-diminuta
#7
Tamio Ohno, Takuya Kai, Yuki Miyasaka, Haruhiko Maruyama, Akira Ishih, Hideto Kino
Hymenolepis diminuta is a parasitic tapeworm of the rat small intestine and is recognized as a useful model for the analysis of cestode-host interactions. In this study, we analyzed factors affecting the biomass of the tapeworm through use of rat strains carrying genetic mutations, namely X-linked severe combined immunodeficiency (xscid; T, B and NK cells deficiency), nude (rnu; T cell deficiency), and mast cell deficient rats. The worm biomass of F344-xscid rats after infection with 5 cysticercoids was much larger than control F344 rats from 3 to 8 weeks...
February 12, 2018: Parasitology International
https://www.readbyqxmd.com/read/29447842/neutrophils-drive-type-i-interferon-production-and-autoantibodies-in-wiskott-aldrich-syndrome
#8
K E Cervantes-Luevano, N Caronni, M C Castiello, E Fontana, G Piperno, A Naseem, P Uva, M Bosticardo, G E Marcovecchio, L D Notarangelo, M P Cicalese, A Aiuti, A Villa, F Benvenuti
BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency caused by mutations in WASp, a key regulator of cytoskeletal dynamics in hematopoietic cells. A high proportion of patients develop autoimmunity due to a breakdown in T and B cell tolerance. Moreover, excessive production of type-I interferon by plasmacytoid DCs contribute to autoimmune signs, however, the factors that triggers excessive innate activation have not been defined. OBJECTIVE: Neutrophils extracellular traps (NETs) emerged as major initiating factors in diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA)...
February 12, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29445421/evidence-for-a-pre-malignant-cell-line-in-a-skin-biopsy-from-a-patient-with-nijmegen-breakage-syndrome
#9
Raneem Habib, Heidemarie Neitzel, Aurelie Ernst, John K L Wong, Bozenna Goryluk-Kozakiewicz, Antje Gerlach, Ilja Demuth, Karl Sperling, Krystyna Chrzanowska
Background: Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DNA double strand breaks (DSBs), and plays a critical role in the processing of DSBs in immune gene rearrangements, telomere maintenance, and meiotic recombination. NBS skin fibroblasts grow slowly in culture and enter early into senescence...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29435907/sustained-virological-response-in-special-populations-with-chronic-hepatitis-c-using-interferon-free-treatments-a-systematic-review-and-meta-analysis-of-observational-cohort-studies
#10
REVIEW
Vinicius Lins Ferreira, Letícia Paula Leonart, Fernanda Stumpf Tonin, Helena Hiemisch Lobo Borba, Roberto Pontarolo
BACKGROUND AND OBJECTIVES: Hepatitis C treatment has changed considerably in recent years, and many interferon (IFN)-free therapies are now available. Considering the high rates of sustained virological response (SVR) presented by clinical trials for these treatments, high rates of effectiveness are also expected in real-world clinical practice. Hence, this study aimed to conduct a systematic review and meta-analysis of observational cohort studies to evaluate the clinical effectiveness and safety of IFN-free therapies for hepatitis C...
February 12, 2018: Clinical Drug Investigation
https://www.readbyqxmd.com/read/29434868/cytotoxic-effect-of-efavirenz-in-bxpc-3-pancreatic-cancer-cells-is-based-on-oxidative-stress-and-is-synergistic-with-ionizing-radiation
#11
Markus Hecht, Thomas Harrer, Verena Körber, Eric O Sarpong, Fabian Moser, Nora Fiebig, Manuela Schwegler, Michael Stürzl, Rainer Fietkau, Luitpold V Distel
The non-nucleoside reverse transcriptase inhibitor (NNRTI) Efavirenz is frequently used in human immunodeficiency virus treatment, but also efficient against cancer in mouse models. Its radiosensitizing effect makes it a promising drug for combination with radiotherapy. The efficacy of Efavirenz combined with irradiation was assessed with immunostaining of DNA-damage markers and colony formation assays in BxPC-3 pancreatic cancer cells. Gene expression and protein phosphorylation of the Efavirenz-sensitive BxPC-3 cells was compared to the resistant primary fibroblasts SBL-5...
February 2018: Oncology Letters
https://www.readbyqxmd.com/read/29434818/current-characteristics-of-hemophilia-patients-co-infected-with-hiv-hcv-in-japan
#12
Satoshi Miuma, Masaaki Hidaka, Mitsuhisa Takatsuki, Koji Natsuda, Akihiko Soyama, Hisamitsu Miyaaki, Yasuko Kanda, Yoko Tamada, Hidetaka Shibata, Eisuke Ozawa, Naota Taura, Susumu Eguchi, Kazuhiko Nakao
Over 30 years have passed since co-infection with human immunodeficiency virus (HIV)/hepatitis C virus (HCV) was first documented in hemophilia patients in Japan. In such cases, the leading cause of mortality is reportedly HCV-associated end-stage liver disease. However, the current characteristics of hemophilia patients co-infected with HIV/HCV are unknown. The aim of the present study was to reveal the current characteristics, notably HCV geno-prevalence and liver function, among hemophilia patients co-infected with HIV/HCV in Japan...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29432774/pstpip1-controls-immune-synapse-stability-in-human-t-cells
#13
W J M Janssen, V Grobarova, J Leleux, C H Jongeneel, M van Gijn, J M van Montfrans, M Boes
BACKGROUND: PSTPIP1 is a cytosolic adaptor protein involved with T-cell activation, differentiation, and migration. Upon cognate T-cell contact, PSTPIP1 is recruited to surface-expressed CD2, where it regulates f-actin remodeling. An immune synapse (IS) is thereby rapidly formed, consisting of TCR clusters surrounded by a ring of adhesion molecules including CD2. OBJECTIVE: From genetic screening of primary immunodeficiency patients, we identified two mutations in PSTPIP1, R228C and T274M which we further characterized in primary patient T-cells...
February 9, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29432734/the-anti-osteosarcoma-cell-activity-by-a-mtorc1-2-dual-inhibitor-res-529
#14
Xujun Hu, Zirui Wang, Meikai Chen, Xuerong Chen, Wenqing Liang
mTOR over-activation is important for human osteosarcoma (OS) tumorigenesis and progression. RES-529 is a mTORC1/2 dual inhibitor. Here, our results show that RES-529 inhibited viability, cell cycle progression and proliferation of the established (U2OS line) and primary human OS cells. RES-529 induced apoptosis activation in OS cells. It was yet non-cytotoxic to OB-6 osteoblastic cells and the primary human osteoblasts. RES-529 disrupted assembling of mTORC1 (mTOR-Raptor association) and mTORC2 (mTOR-Rictor-mLST8 association) in human OS cells, blocking mTORC1/2 activation...
February 9, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29432732/long-non-coding-rna-00312-downregulates-cyclin-b1-and-inhibits-hepatocellular-carcinoma-cell-proliferation-in-vitro-and-in-vivo
#15
Jianbing Wu, Xiaoxin Zhou, Yilei Fan, Xiangwei Cheng, Bin Lu, Zhe Chen
Long non-coding RNAs are dysregulated in human hepatocellular carcinoma (HCC). We tested the potential effect of long non-coding RNA 00312 ("Lnc00312") on human HCC cell behavior in vitro and in vivo. Forced-expression of Lnc00312 by a lentiviral vector induced proliferation inhibition and apoptosis in HepG2 cells and primary human HCC cells. Lnc00312 downregulated cyclin B1 and induced G2-M cell cycle arrest in HCC cells. Restoring cyclin B1 expression by a cyclin B1 cDNA construct inhibited Lnc00312-induced cytotoxicity against HCC cells...
February 9, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29432596/high-turnover-of-tissue-macrophages-contributes-to-tuberculosis-reactivation-in-simian-immunodeficiency-virus-infected-rhesus-macaques
#16
Marcelo J Kuroda, Chie Sugimoto, Yanhui Cai, Kristen M Merino, Smriti Mehra, Mariluz Araínga, Chad J Roy, Cecily C Midkiff, Xavier Alvarez, Elizabeth S Didier, Deepak Kaushal
Background: Tuberculosis (TB) and human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) profoundly affect the immune system and synergistically accelerate disease progression. It is believed that CD4+ T-cell depletion by HIV is the major cause of immunodeficiency and reactivation of latent TB. Previous studies demonstrated that blood monocyte turnover concurrent with tissue macrophage death from virus infection better predicted AIDS onset than CD4+ T-cell depletion in macaques infected with simian immunodeficiency virus (SIV)...
February 8, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29431588/aptamers-in-hiv-research-diagnosis-and-therapy
#17
Jyoti Bala, Srinivasan Chinnapaiyan, Rajib Kumar Dutta, Hoshang Unwalla
Aptamers are high affinity single-stranded nucleic acid or protein ligands which exhibit specificity and avidity comparable to, or exceeding that of antibodies and can be generated against most targets. The functionality of aptamers is based on their unique tertiary structure, complexity and their ability to attain unique binding pockets by folding. Aptamers are selected in vitro by a process called Systematic Evolution of Ligands by Exponential enrichment (SELEX). The Kd values for the selected aptamer are often in the picomolar to low nanomolar range...
February 12, 2018: RNA Biology
https://www.readbyqxmd.com/read/29429458/-burkholderia-cepacia-infection-in-children-a-clinical-analysis-of-16-cases
#18
Fang Peng, Li-Li Zhong, Xiao-Juan Lin, Min Chen, Miao Zhou
OBJECTIVE: To investigate the distribution characteristics and clinical features of Burkholderia cepacia infection in children. METHODS: A retrospective analysis was performed for the clinical data of 16 children with Burkholderia cepacia infection who were hospitalized between June 2012 and September 2017. RESULTS: All 16 children with Burkholderia cepacia infection were sporadic cases. A total of 16 strains of Burkholderia cepacia were isolated, among which 8 were detected by sputum culture, 5 were detected by blood culture, 2 were detected by tracheal intubation tip culture, and 1 was detected by lung biopsy culture...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29428370/reinforcing-the-utility-of-chick-embryo-model-to-in-vivo-evaluate-engraftment-of-human-leukemic-stem-cells
#19
Arwa Farhat, Eiad Ali-Deeb, Amin Sulaiman, Majd Aljamali
BACKGROUND AND OBJECTIVE: Development of appropriate translational in vivo models is a prerequisite for personalized management of leukemic patients. Indeed, several immunodeficient mice models were developed for leukemias with main limitations due to their high cost, demanding management, and elongated assessment intervals. In this report, we aimed at evaluating the engraftment of CD34+ cells, isolated from an acute myeloid leukemia (AML) patient, in naturally immunodeficient chick embryo model...
February 7, 2018: Journal of the Egyptian National Cancer Institute
https://www.readbyqxmd.com/read/29426936/genetic-alterations-driving-metastatic-colony-formation-are-acquired-outside-of-the-primary-tumour-in-melanoma
#20
Melanie Werner-Klein, Sebastian Scheitler, Martin Hoffmann, Isabelle Hodak, Klaus Dietz, Petra Lehnert, Veronika Naimer, Bernhard Polzer, Steffi Treitschke, Christian Werno, Aleksandra Markiewicz, Kathrin Weidele, Zbigniew Czyz, Ulrich Hohenleutner, Christian Hafner, Sebastian Haferkamp, Mark Berneburg, Petra Rümmele, Anja Ulmer, Christoph A Klein
Mouse models indicate that metastatic dissemination occurs extremely early; however, the timing in human cancers is unknown. We therefore determined the time point of metastatic seeding relative to tumour thickness and genomic alterations in melanoma. Here, we find that lymphatic dissemination occurs shortly after dermal invasion of the primary lesion at a median thickness of ~0.5 mm and that typical driver changes, including BRAF mutation and gained or lost regions comprising genes like MET or CDKNA2, are acquired within the lymph node at the time of colony formation...
February 9, 2018: Nature Communications
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