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Immunodeficiency

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https://www.readbyqxmd.com/read/29458172/modelling-human-myoblasts-survival-upon-xenotransplantation-into-immunodeficient-mouse-muscle
#1
Christophe Praud, Karine Vauchez, Pascal Zongo, Jean-Thomas Vilquin
Cell transplantation has been challenged in several clinical indications of genetic or acquired muscular diseases, but therapeutic success were mitigated. To understand and improve the yields of tissue regeneration, we aimed at modelling the fate of CD56-positive human myoblasts after transplantation. Using immunodeficient severe combined immunodeficiency (SCID) mice as recipients, we assessed the survival, integration and satellite cell niche occupancy of human myoblasts by a triple immunohistochemical labelling of laminin, dystrophin and human lamin A/C...
February 16, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29458011/inflammatory-cytokines-induce-podoplanin-expression-at-the-tumor-invasive-front
#2
Akiko Kunita, Vanessa Baeriswyl, Claudia Meda, Erik Cabuy, Kimiko Takeshita, Enrico Giraudo, Andreas Wicki, Masashi Fukayama, Gerhard Christofori
Tumor invasion is a critical first step in the organismic dissemination of cancer cells and the formation of metastasis in distant organs, the most important prognostic factor and the actual cause of death in most of the cancer patients. We report here that the cell surface protein podoplanin (PDPN), a potent inducer of cancer cell invasion, is conspicuously expressed by the invasive front of squamous cell carcinomas (SCC) of the cervix in patients and in the transgenic HPV/E2 mouse model of cervical cancer...
February 16, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29456700/effects-of-hiv-on-metabolic-and-biological-pathways-of-cd4-t-lymphocytes
#3
Yanli Ma, Wenge Zhao, Changhe Shi, Ning Wang, Tianli Fan
The effects of human immunodeficiency virus (HIV) on the metabolic and biological pathways of cluster of differentiation (CD)4+ T lymphocytes were investigated. A total of 150 patients with acquired immune deficiency syndrome (AIDS) and 50 healthy individuals who were admitted to hospital for physical examination during the period of June 2016 to January 2017, were selected as subjects in the present study. According to the virus load, 150 AIDS patients were divided into three groups: i) Viral load >106 copies/ml (group A, n=39), ii) 104 copies/ml < viral load <105 copies/ml (group B, n=76), and iii) viral load <104 copies/ml (group C, n=35)...
March 2018: Experimental and Therapeutic Medicine
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
#4
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/29456530/donor-genotype-in-the-interleukin-7-receptor-%C3%AE-chain-predicts-risk-of-graft-versus-host-disease-and-cytomegalovirus-infection-after-allogeneic-hematopoietic-stem-cell-transplantation
#5
Katrine Kielsen, Christian Enevold, Carsten Heilmann, Henrik Sengeløv, Anders Elm Pedersen, Lars P Ryder, Klaus Müller
The efficacy of allogeneic hematopoietic stem cell transplantation (HSCT) is challenged by acute and chronic graft-versus-host disease (aGVHD and cGVHD) and viral infections due to long-lasting immunodeficiency. Interleukin-7 (IL-7) is a cytokine essential for de novo T cell generation in thymus and peripheral T cell homeostasis. In this study, we investigated the impact of the single nucleotide polymorphism rs6897932 in the IL-7 receptor α-chain (IL-7Rα) which has previously been associated with several autoimmune diseases...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29456239/a-rare-presentation-of-cryptococcal-meningitis-and-cerebellitis-in-an-asplenic-patient-seronegative-for-human-immunodeficiency-virus-hiv
#6
Hafsa Abbas, Angelica CiFuentes Kottkamp, Naeem Abbas, Richard Cindrich, Manisha Singh
BACKGROUND Cryptococcal meningitis in patients who are seronegative for the human immunodeficiency virus (HIV) and in patients who are splenectomized is rare. This report is an unusual case of meningeal and cerebellar infection due to the encapsulated yeast, Cryptococcus neoformans, which has not previously been associated with asplenia. CASE REPORT A 65-year-old HIV-negative patient with a previous splenectomy, presented with a three-day history of fever, vomiting, and headache. His symptoms progressed to generalized body aches, persistent fever, and neck stiffness...
February 19, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29456222/prevalence-and-risk-factors-of-chronic-kidney-disease-in-cote-d-ivoire-an-analytic-study-conducted-in-the-department-of-internal-medicine
#7
Hubert Kouame Yao, Serge Didier Konan, Sindou Sanogo, Sery Patrick Diopoh, Amadou Demba Diallo
Chronic kidney disease (CKD) has become a public health problem because of its increasing prevalence. The objective of this study was to describe the current profile of CKD in our working conditions. This is a descriptive retrospective study of patients admitted for CKD during the period from January 2010 to December 2014 in the Internal Medicine Department of the university hospital of Treichville in Abidjan. CKD was defined by a glomerular filtration rate below 60 mL/min lasting for at least three months...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29455848/caveolin-1-the-unnoticed-player-in-tcr-and-bcr-signaling
#8
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
#9
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/29455403/aseptic-central-nervous-system-infections-in-adults-what-predictor-for-unknown-etiological-diagnosis
#10
Jacopo Monticelli, Nicholas Geremia, Pierlanfranco D'Agaro, Vincenzo Petix, Roberto Luzzati
Despite the availability of nucleic acid amplification tests (NAATs), most of aseptic acute meningitides, encephalitides, and meningoencephalitides (AAMEMs) in adults remain of unknown etiology so far. To shed light on such topic, we aimed to evaluate potential predictors for AAMEMs of unknown origin. We collected retrospectively data from all consecutive cases of AAMEMs in adults discharged from an Italian referral hospital, from January 2004 to December 2016. Laboratory analysis included common immunometric methods and NAATs...
February 17, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29455191/smith-lemli-opitz-syndrome-clinical-and-biochemical-correlates
#11
Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical features of SLOS in the context of the emerging evidence of the importance of cholesterol in morphogenesis and steroidogenesis. METHODS: We retrospectively reviewed the records of 18 patients (including four fetuses) with confirmed SLOS and documented their clinical and biochemical features...
February 19, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29454993/in-vitro-studies-of-disease-linked-variants-of-human-trna-nucleotidyltransferase-reveal-decreased-thermal-stability-and-altered-catalytic-activity
#12
M Leibovitch, P J Hanic-Joyce, P B M Joyce
Mutations in the human TRNT1 gene encoding tRNA nucleotidyltransferase (tRNA-NT), an essential enzyme responsible for addition of the CCA (cytidine-cytidine-adenosine) sequence to the 3'-termini of tRNAs, have been linked to disease phenotypes including congenital sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD) or retinitis pigmentosa with erythrocyte microcytosis. The effects of these disease-linked mutations on the structure and function of tRNA-NT have not been explored...
February 15, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29454632/a-case-of-epstein-barr-virus-negative-human-immunodeficiency-virus-related-primary-effusion-lymphoma
#13
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/29454382/high-risk-human-papillomavirus-prevalence-and-genotype-distribution-among-women-infected-with-hiv-in-manaus-amazonas
#14
Monique Figueiredo Teixeira, Meritxell Sabidó, André Luiz Leturiondo, Cynthia de Oliveira Ferreira, Kátia Luz Torres, Adele Schwartz Benzaken
BACKGROUND: Human immunodeficiency virus (HIV)-positive women have a high prevalence of human papillomavirus (HPV), and are infected with a broader range of HPV types than HIV-negative women. We aimed to determine the prevalence of cervical cytologic abnormalities, high-risk (HR)-HPV prevalence, type distribution according to the severity of cervical lesions and CD4 cell count and identify factors associated with HR-HPV infection among women living with HIV in Manaus, Amazonas. METHODS: We enrolled 325 women living with HIV that attended an infectious diseases referral hospital...
February 17, 2018: Virology Journal
https://www.readbyqxmd.com/read/29454196/sexually-transmitted-infections-and-immune-activation-among-hiv-infected-but-virally-suppressed-youth-on-antiretroviral-therapy
#15
Tanya L Kowalczyk Mullins, Su X Li, James Bethel, Maureen M Goodenow, Stephanie Hudey, John W Sleasman
BACKGROUND: Human immunodeficiency virus (HIV) infection is associated with chronic immune activation, and concurrent sexually transmitted infections (STIs) may increase immune activation. OBJECTIVES: Because HIV-infected youth are at high risk of STIs and little is known about the impact of STIs on immune activation in HIV-infected youth, we conducted an exploratory study examining the association between STIs and systemic inflammation and immune activation among HIV-infected adolescents...
February 7, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29454027/selection-of-biomarkers-for-hiv-1-latency-by-integrated-analysis
#16
Sun Young Lee, Byeong-Sun Choi, Cheol-Hee Yoon, Chun Kang, Kisoon Kim, Kyung-Chang Kim
A major obstacle in the treatment of human immunodeficiency virus type 1 (HIV-1) is its ability to establish latent infection. To find novel biomarkers associated with the mechanism of HIV-1 latent infection, we identified 70 candidate genes in HIV-1 latently infected cells through the integrated analysis in a previous study. It is important to select more effective biomarkers among 70 candidates and to verify the possibility of selected biomarkers for HIV-1 latency. We identified the 24 and 25 genes from 70 candidate genes in significantly enriched categories selected by Database for Annotation, Visualization and Integrated Discovery (DAVID) software and Gene Set Enrichment Analysis (GSEA) software, respectively...
February 14, 2018: Genomics
https://www.readbyqxmd.com/read/29453831/evaluation-of-a-recombinant-multiepitope-antigen-for-diagnosis-of-hepatitis-c-virus-a-lower-cost-alternative-for-antigen-production
#17
Ronaldo Luis Thomasini, Hortencia Gisele Amaro Souza, Oscar Bruna-Romero, Antonio Helvecio Totola, Neiva Sellan Lopes Gonçales, Cristiano Xavier Lima, Mauro Martins Teixeira
BACKGROUND: The most of the hepatitis C-infected patients remain undiagnosed until they develop severe liver damage or submitted for serological screening. OBJECTIVE: To evaluate a recombinant multiepitope protein for detection of IgG anti-hepatitis C virus. METHOD: A synthetic gene was cloned, expressed in Escherichia coli, and the recombinant protein was purified. Human serum panel consisted of 88 positives (20 HCV genotyped) and 376 negatives for hepatitis C, 6 positives for human acquired immunodeficiency virus, 6 syphilis positives, 6 hepatitis B positives were tested by IgG antihepatitis C virus using the protein by enzyme-linked immunosorbent assay...
February 17, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29453744/low-serum-ige-is-a-sensitive-and-specific-marker-for-common-variable-immunodeficiency-cvid
#18
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/29453687/impact-of-boosted-antiretroviral-therapy-on-the-pharmacokinetics-and-efficacy-of-clopidogrel-and-prasugrel-active-metabolites
#19
Niloufar Marsousi, Youssef Daali, Pierre Fontana, Jean-Luc Reny, Virginie Ancrenaz-Sirot, Alexandra Calmy, Serge Rudaz, Jules Alexandre Desmeules, Caroline Flora Samer
BACKGROUND AND OBJECTIVES: Prasugrel and clopidogrel are inhibitors of the ADP-P 2 Y 12 platelet receptor used in acute coronary syndrome patients. They require bioactivation via isoenzymes such as cytochrome P450 (CYP) 3A4, CYP2C19 and CYP2B6. Ritonavir and cobicistat are potent CYP3A inhibitors, prescribed as pharmacokinetic (PK) enhancers in the treatment of human immunodeficiency virus (HIV) infection. METHODS: In this study, the impact of boosted antiretroviral therapies (ARTs) on the PK of clopidogrel and prasugrel active metabolites (AMs), and on the efficacy of prasugrel and clopidogrel, were evaluated in a randomized crossover clinical trial...
February 16, 2018: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/29453458/il-2-inducible-kinase-itk-is-critical-for-hiv-1-infection-of-jurkat-t-cells
#20
Anika Hain, Melanie Krämer, René M Linka, Saeideh Nakhaei-Rad, Mohammad Reza Ahmadian, Dieter Häussinger, Arndt Borkhardt, Carsten Münk
Successful replication of Human immunodeficiency virus (HIV)-1 depends on the expression of various cellular host factors, such as the interleukin-2 inducible T-cell kinase (ITK), a member of the protein family of TEC-tyrosine kinases. ITK is selectively expressed in T-cells and coordinates signaling pathways downstream of the T-cell receptor and chemokine receptors, including PLC-1 activation, Ca 2+ -release, transcription factor mobilization, and actin rearrangements. The exact role of ITK during HIV-1 infection is still unknown...
February 16, 2018: Scientific Reports
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