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Primary Immunodeficiency

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https://www.readbyqxmd.com/read/28534541/-effectiveness-of-second-generation-direct-acting-antivirals-in-chronic-hepatitis-c
#1
R Juanbeltz Zurbano, J M Zozaya Urmeneta, J Repáraz Padrós, J Castilla Catalán, M T Sarobe Carricas, J I Úriz-Otano, M Gracia Ruiz de Alda, R San Miguel Elcano
BACKGROUND: Second-generation direct-acting antivirals (DAA) have shown high sustained virologic response (SVR) for the treatment of chronic hepatitis C in clinical trials. The objective of this study is to estimate DAA effectiveness in treatment of this disease. METHODS: Hepatitis C virus (HCV) monoinfected patients and HCV-human immunodeficiency virus (HIV) coinfected pa-tients who started interferon-free DAA based regimens during 2015 were included. The primary effectiveness outcome was SVR, defined as an undetectable viral load 12 weeks after the end of treatment...
April 30, 2017: Anales del Sistema Sanitario de Navarra
https://www.readbyqxmd.com/read/28534036/highly-successful-hepatitis-c-virus-hcv-treatment-outcomes-in-human-immunodeficiency-virus-hcv-coinfected-patients-at-a-large-urban-ryan-white-clinic
#2
Manish Patel, Saira Rab, Aley G Kalapila, Alison Kyle, Ike Solomon Okosun, Lesley Miller
BACKGROUND: The introduction of direct-acting antivirals (DAAs) created a major paradigm shift in the treatment of chronic hepatitis C. Currently, there is little "real-world" data regarding hepatitis C virus (HCV) treatment outcomes in the human immunodeficiency virus (HIV)/HCV-coinfected population. METHODS: This retrospective cohort study examined HCV treatment outcomes of HIV/HCV-coinfected patients at a large, urban, Ryan White-funded clinic caring for an underserved population...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28532143/developing-inference-model-to-diagnosis-of-primary-immunodeficiency-diseases-in-prot%C3%A3-g%C3%A3
#3
Fateme Sepehri, Mostafa Langarizadeh, Laleh Sharifi, Gholamreza Azizi, Reza Safdari, Asghar Aghamohammadi
No abstract text is available yet for this article.
April 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28530713/bach2-immunodeficiency-illustrates-an-association-between-super-enhancers-and-haploinsufficiency
#4
Behdad Afzali, Juha Grönholm, Jana Vandrovcova, Charlotte O'Brien, Hong-Wei Sun, Ine Vanderleyden, Fred P Davis, Ahmad Khoder, Yu Zhang, Ahmed N Hegazy, Alejandro V Villarino, Ira W Palmer, Joshua Kaufman, Norman R Watts, Majid Kazemian, Olena Kamenyeva, Julia Keith, Anwar Sayed, Dalia Kasperaviciute, Michael Mueller, Jason D Hughes, Ivan J Fuss, Mohammed F Sadiyah, Kim Montgomery-Recht, Joshua McElwee, Nicholas P Restifo, Warren Strober, Michelle A Linterman, Paul T Wingfield, Holm H Uhlig, Rahul Roychoudhuri, Timothy J Aitman, Peter Kelleher, Michael J Lenardo, John J O'Shea, Nichola Cooper, Arian D J Laurence
The transcriptional programs that guide lymphocyte differentiation depend on the precise expression and timing of transcription factors (TFs). The TF BACH2 is essential for T and B lymphocytes and is associated with an archetypal super-enhancer (SE). Single-nucleotide variants in the BACH2 locus are associated with several autoimmune diseases, but BACH2 mutations that cause Mendelian monogenic primary immunodeficiency have not previously been identified. Here we describe a syndrome of BACH2-related immunodeficiency and autoimmunity (BRIDA) that results from BACH2 haploinsufficiency...
May 22, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28529952/advancements-in-developing-strategies-for-sterilizing-and-functional-hiv-cures
#5
REVIEW
Wei Xu, Haoyang Li, Qian Wang, Chen Hua, Hanzhen Zhang, Weihua Li, Shibo Jiang, Lu Lu
Combined antiretroviral therapy (cART) has been successful in prolonging lifespan and reducing mortality of patients infected with human immunodeficiency virus (HIV). However, the eradication of latent HIV reservoirs remains a challenge for curing HIV infection (HIV cure) because of HIV latency in primary memory CD4(+) T cells. Currently, two types of HIV cures are in development: a "sterilizing cure" and a "functional cure." A sterilizing cure refers to the complete elimination of replication-competent proviruses in the body, while a functional cure refers to the long-term control of HIV replication without treatment...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28523402/advances-in-the-care-of-primary-immunodeficiencies-pids-from-birth-to-adulthood
#6
Nizar Mahlaoui, Klaus Warnatz, Alison Jones, Sarita Workman, Andrew Cant
Primary immunodeficiencies (PIDs) are a widely heterogeneous group of inherited defects of the immune system consisting of many clinical phenotypes with at least 300 underlying genetic deficits currently known. Patients with PIDs can present with, or develop during the course of their life, a susceptibility to recurrent and chronic infection along with autoimmune, allergic, inflammatory, and/or proliferative disorders, all potentially leading to end-organ damage. In recent years, a combination of basic and clinical research has greatly improved understanding of the underlying immunological and genetic defects in PIDs, leading to improved diagnosis, classification, and treatment approaches...
May 18, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28521396/inhibition-of-mmp-9-expression-by-ritonavir-or-saquinavir-is-associated-with-inactivation-of-the-akt-fra-1-pathway-in-cervical-intraepithelial-neoplasia-cells
#7
Ilaria Bacigalupo, Clelia Palladino, Patrizia Leone, Elena Toschi, Cecilia Sgadari, Barbara Ensoli, Giovanni Barillari
A reduced incidence and decreased clinical progression of uterine cervical intraepithelial neoplasia (CIN) has been observed in women infected with human immunodeficiency virus (HIV) treated with HIV-protease inhibitors (PIs). The HIV-PIs saquinavir (SQV) and ritonavir (RTV) have been demonstrated to efficiently inhibit invasion of human primary CIN cells by downregulating the expression of matrix metalloproteinase (MMP)-9. The present study further investigated the molecular mechanisms underlying the activity of SQV and RTV in CIN...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28520701/another-subcutaneous-immune-globulin-cuvitru-for-primary-immunodeficiency
#8
(no author information available yet)
No abstract text is available yet for this article.
May 22, 2017: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/28520146/association-of-tenofovir-disoproxil-fumarate-with-primary-allograft-survival-in-hiv-positive-kidney-transplant-recipients
#9
Suzanne M Boyle, Gregory Malat, Meera N Harhay, Dong H Lee, Lisa Pang, Sindhura Talluri, Akshay Sharma, Tiffany E Bias, Karthik Ranganna, Alden M Doyle
BACKGROUND: Tenofovir disoproxil fumarate (TDF) is an anti-retroviral agent frequently used to treat human immunodeficiency virus (HIV). There are concerns regarding its potential to cause acute kidney injury, chronic kidney disease, and proximal tubulopathy. Although TDF can effectively suppress HIV after kidney transplantation, it is unknown whether use of TDF-based anti-retroviral therapy (ART) after kidney transplant (KT) adversely affects allograft survival. METHODS: We examined 104 HIV+ KT recipients at our center between 2001 and 2014...
May 18, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28518089/laparoscopic-technique-for-serial-collection-of-liver-and-mesenteric-lymph-nodes-in-macaques
#10
Alexander S Zevin, Cassie Moats, Drew May, Solomon Wangari, Charlene Miller, Joel Ahrens, Naoto Iwayama, Megan Brown, Debbie Bratt, Nichole R Klatt, Jeremy Smedley
The mesenteric lymph nodes (MLN) and the liver are exposed to microbes and microbial products from the gastrointestinal (GI) tract, making them immunologically unique. The GI tract and associated MLN are sites of early viral replication in human immunodeficiency virus (HIV) infection and the MLN are likely important reservoir sites that harbor latently-infected cells even after prolonged antiretroviral therapy (ART). The liver has been shown to play a significant role in immune responses to lentiviruses and appears to play a significant role in clearance of virus from circulation...
May 2, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28515942/a-tandem-cd19-cd20-car-lentiviral-vector-drives-on-target-and-off-target-antigen-modulation-in-leukemia-cell-lines
#11
Dina Schneider, Ying Xiong, Darong Wu, Volker Nӧlle, Sarah Schmitz, Waleed Haso, Andrew Kaiser, Boro Dropulic, Rimas J Orentas
BACKGROUND: Clinical success with chimeric antigen receptor (CAR)- based immunotherapy for leukemia has been accompanied by the associated finding that antigen-escape variants of the disease are responsible for relapse. To target hematologic malignancies with a chimeric antigen receptor (CAR) that targets two antigens with a single vector, and thus potentially lessen the chance of leukemic escape mutations, a tandem-CAR approach was investigated. METHODS: Antigen binding domains from the FMC63 (anti-CD19) and Leu16 (anti-CD20) antibodies were linked in differing configurations to transmembrane and T cell signaling domains to create tandem-CARs...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28515318/molecular-mechanism-of-activation-of-class-ia-phosphoinositide-3-kinases-pi3ks-by-membrane-localized-hras
#12
Braden D Siempelkamp, Manoj K Rathinaswamy, Meredith L Jenkins, John E Burke
Class IA PI3Ks are involved in the generation of the key lipid signaling molecule phosphatidylinositol 3,4,5-trisphosphate (PIP3), and inappropriate activation of this pathway is implicated in a multitude of human diseases, including cancer, inflammation, and primary immunodeficiencies. Class IA PI3Ks are activated downstream of the Ras superfamily of GTPases, and Ras-PI3K interaction plays a key role in promoting tumor formation and maintenance in Ras-driven tumors. Investigating the detailed molecular events in the Ras-PI3K interaction has been challenging because it occurs on a membrane surface...
May 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28513998/ibd-due-to-pid-inflammatory-bowel-disease-caused-by-primary-immunodeficiencies-clinical-presentations-review-of-literature-and-proposal-of-a-rational-diagnostic-algorithm
#13
REVIEW
Daniel Tegtmeyer, Maximilian Seidl, Patrick Gerner, Ulrich Baumann, Christian Klemann
Inflammatory bowel diseases (IBD) including Crohn's disease (CD) and ulcerative colitis (UC) have a multifactorial pathogenesis with complex interactions between polygenetic predispositions and environmental factors. However, IBD can also be caused by monogenic diseases, such as primary immunodeficiencies (PID). Recently, an increasing number of these altogether rare diseases has been described to present often primarily, or solely as IBD. Early recognition of these conditions enables adaption of therapies and thus directly benefits the course of IBDs...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28512459/in-vivo-chronic-stimulation-unveils-autoreactive-potential-of-wiskott-aldrich-syndrome-protein-deficient-b-cells
#14
Maria Carmina Castiello, Francesca Pala, Lucia Sereni, Elena Draghici, Donato Inverso, Aisha V Sauer, Francesca Schena, Elena Fontana, Enrico Radaelli, Paolo Uva, Karla E Cervantes-Luevano, Federica Benvenuti, Pietro L Poliani, Matteo Iannacone, Elisabetta Traggiai, Anna Villa, Marita Bosticardo
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency caused by mutations in the gene encoding the hematopoietic-specific WAS protein (WASp). WAS is frequently associated with autoimmunity, indicating a critical role of WASp in maintenance of tolerance. The role of B cells in the induction of autoreactive immune responses in WAS has been investigated in several settings, but the mechanisms leading to the development of autoimmune manifestations have been difficult to evaluate in the mouse models of the disease that do not spontaneously develop autoimmunity...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28509119/serial-sonographic-findings-during-progression-from-acute-pyelonephritis-to-renal-abscess-a-rare-case-report
#15
Masayuki Sato, Shigeru Suzuki, Sorachi Shimada, Shiho Yamamoto, Genya Taketazu, Tokuo Mukai, Mio Taketazu, Hiroshi Sakata, Junichi Oki
Renal abscess, accumulation of infective fluid in the kidney, is a rare pathology. Currently, no reports of the serial imaging changes of acute pyelonephritis (APN) progressing to renal abscess exist. We report clinical and serial sonographic findings of a patient with hyper-immunoglobulin E syndrome, a primary immunodeficiency, who developed APN that progressed to renal abscess. Renal ultrasonography revealed that echogenicity of infectious lesions dramatically changed from isoechoic to hyperechoic and to hypoechoic during progression...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28507545/clinical-and-molecular-heterogeneity-of-rtel1-deficiency
#16
Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J J Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R Ehl, Charlotte Niemeyer, Kaan Boztug, Marcin W Wlodarski
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can add to disease severity. RTEL1 deficiency has recently been described as a major genetic etiology, but the molecular basis and clinical consequences of RTEL1-associated DC are incompletely characterized. We report our observations in a cohort of six patients: five with novel biallelic RTEL1 mutations p...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28506687/human-immunodeficiency-virus-hiv-and-epstein-barr-virus-ebv-related-lymphomas-pathology-view-point
#17
REVIEW
Ebru Linke-Serinsöz, Falko Fend, Leticia Quintanilla-Martinez
The contribution of Epstein Barr virus (EBV) and Kaposi sarcoma herpes virus (KSHV) to the development of specific types of malignant lymphomas occurring in the human immunodeficiency virus (HIV) setting has been extensively studied since the beginning of the HIV epidemic 35 years ago. The introduction of highly active antiretroviral therapies (HAART) in 1996 has changed dramatically the incidence of HIV-related malignancies. Nevertheless, malignant lymphomas continue to be the major group of malignances observed in HIV infected individuals, and the most common cause of cancer related-deaths...
April 7, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28503543/irak4-deficiency-in-a-patient-with-recurrent-pneumococcal-infections-case-report-and-review-of-the-literature
#18
Karina Gobin, Mary Hintermeyer, Bertrand Boisson, Maya Chrabieh, Pegah Gandil, Ann Puel, Capucine Picard, Jean-Laurent Casanova, John Routes, James Verbsky
Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes and start the inflammatory cascade. Sensing of microbes occurs by a number of pathogen-recognition receptors, resulting in the activation of inflammatory signal transduction pathways, such as the activation of NF-κB. Herein, we describe a case of IRAK4 deficiency, a key signal transduction molecule of toll-like and IL-1 receptors...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28502416/the-heterogeneity-of-systemic-inflammation-in-bronchiectasis
#19
Aarash D Saleh, James D Chalmers, Anthony De Soyza, Thomas C Fardon, Spiro O Koustas, Jonathan Scott, A John Simpson, Jeremy S Brown, John R Hurst
BACKGROUND: Systemic inflammation in bronchiectasis is poorly studied in relation to aetiology and severity. We hypothesized that molecular patterns of inflammation may define particular aetiology and severity groups in bronchiectasis. METHOD: We assayed blood concentrations of 31 proteins from 90 bronchiectasis patients (derivation cohort) and conducted PCA to examine relationships between these markers, disease aetiology and severity. Key results were validated in two separate cohorts of 97 and 79 patients from other centres...
June 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28499452/current-status-and-perspectives-of-patient-derived-xenograft-models-in-cancer-research
#20
REVIEW
Yunxin Lai, Xinru Wei, Shouheng Lin, Le Qin, Lin Cheng, Peng Li
Cancers remain a major public health problem worldwide, which still require profound research in both the basic and preclinical fields. Patient-derived xenograft (PDX) models are created when cancerous cells or tissues from patients' primary tumors are implanted into immunodeficient mice to simulate human tumor biology in vivo, which have been extensively used in cancer research. The routes of implantation appeared to affect the outcome of PDX research, and there has been increasing applications of patient-derived orthotopic xenograft (PDOX) models...
May 12, 2017: Journal of Hematology & Oncology
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