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Primary immunodeficience

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https://www.readbyqxmd.com/read/28102610/outcomes-of-hiv-positive-patients-lost-to-follow-up-in-african-treatment-programs
#1
REVIEW
Kathrin Zürcher, Anne Mooser, Nanina Anderegg, Olga Tymejczyk, Margaret J Couvillon, Denis Nash, Matthias Egger
OBJECTIVE: The retention of patients on antiretroviral therapy (ART) is key to achieving global targets in response to the HIV epidemic. Loss to follow-up (LTFU) can be substantial, with unknown outcomes for patients lost to ART programs. We examined changes in outcomes of patients LTFU over calendar time, assessed associations with other studies and program characteristics, and investigated the relative success of different tracing methods. METHODS: We performed a systematic review and logistic random-effects meta-regression analysis of studies that traced adults or children who started ART and were LTFU in sub-Saharan African treatment programs...
January 19, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28101242/screening-and-analysis-of-breast-cancer-genes-regulated-by-the-human-mammary-microenvironment-in-a-humanized-mouse-model
#2
Mingjie Zheng, Jue Wang, Lijun Ling, Dandan Xue, Shui Wang, Yi Zhao
Tumor microenvironments play critical regulatory roles in tumor growth. Although mouse cancer models have contributed to the understanding of human tumor biology, the effectiveness of mouse cancer models is limited by the inability of the models to accurately present humanized tumor microenvironments. Previously, a humanized breast cancer model in severe combined immunodeficiency mice was established, in which human breast cancer tissue was implanted subcutaneously, followed by injection of human breast cancer cells...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28100613/dynamic-modulation-of-expression-of-lentiviral-restriction-factors-in-primary-cd4-t-cells-following-siv-infection
#3
Andrew R Rahmberg, Premeela A Rajakumar, James M Billingsley, R Paul Johnson
: Although multiple restriction factors have been shown to inhibit HIV/SIV replication, little is known about their expression in vivo Expression of 45 confirmed and putative HIV/SIV restriction factors was analyzed in CD4+ T cells from peripheral blood and jejunum in rhesus macaques, revealing distinct expression patterns in naïve and memory subsets. In both peripheral blood and jejunum, memory CD4+ T cells expressed higher levels of multiple restriction factors compared with naïve cells...
January 18, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28099189/productive-infection-of-human-neural-progenitor-cells-by-r5-tropic-hiv-1-opiate-co-exposure-heightens-infectivity-and-functional-vulnerability
#4
Joyce M Balinang, Ruturaj R Masvekar, Kurt F Hauser, Pamela E Knapp
OBJECTIVE: Human immunodeficiency virus type-1 (HIV-1) causes a spectrum of CNS complications; many are worsened by opiate co-exposure. Human neural progenitor cells (hNPCs) give rise to all CNS neurons and macroglia. We tested the hypothesis that hNPC maturation and fate are altered by HIV and opiates, contributing to HIV-1-related neuropathology. Since reports that hNPCs are infectable remain controversial, we rigorously examined hNPC infection and ability to propagate infection, and determined whether HIV effects on hNPC function required infection...
January 17, 2017: AIDS
https://www.readbyqxmd.com/read/28096536/germline-ikaros-mutation-associated-with-primary-immunodeficiency-that-progressed-to-t-cell-acute-lymphoblastic-leukemia
#5
N Yoshida, H Sakaguchi, H Muramatsu, Y Okuno, C Song, S Dovat, A Shimada, M Ozeki, H Ohnishi, T Teramoto, T Fukao, N Kondo, Y Takahashi, K Matsumoto, K Kato, S Kojima
Leukemia accepted article preview online, 18 January 2017. doi:10.1038/leu.2017.25.
January 18, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28095323/pattern-recognitions-receptors-in-immunodeficiency-disorders
#6
Esameil Mortaz, Ian M Adcock, Payam Tabarsi, Ilad Alavi Darazam, Masoud Movassaghi, Johan Garssen, Hamidreza Jamaati, Aliakbar Velayati
Pattern recognition receptors (PRRs) recognize common microbial or host-derived macromolecules and have important roles in early activation and response of the immune system. Initiation of the innate immune response starts with the recognition of microbial structures called pathogen associated molecular patterns (PAMPs). Recognition of PAMPs is performed by germline-encoded receptors expressed mainly on immune cells termed pattern recognition receptors (PRRs). Several classes of pattern recognition receptors (PRRs) are involved in the pathogenesis of diseases, including Toll-like receptors (TLRs), C-type lectin receptors (CLRs), and Nod-like receptors (NLRs)...
January 14, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28093071/spag6-and-l1td1-are-transcriptionally-regulated-by-dna-methylation-in-non-small-cell-lung-cancers
#7
Corinna Altenberger, Gerwin Heller, Barbara Ziegler, Erwin Tomasich, Maximilian Marhold, Thais Topakian, Leonhard Müllauer, Petra Heffeter, György Lang, Adelheid End-Pfützenreuter, Balazs Döme, Britt-Madeleine Arns, Walter Klepetko, Christoph C Zielinski, Sabine Zöchbauer-Müller
BACKGROUND: DNA methylation regulates together with other epigenetic mechanisms the transcriptional activity of genes and is involved in the pathogenesis of malignant diseases including lung cancer. In non-small cell lung cancer (NSCLC) various tumor suppressor genes are already known to be tumor-specifically methylated. However, from the vast majority of a large number of genes which were identified to be tumor-specifically methylated, tumor-specific methylation was unknown so far. Thus, the major aim of this study was to investigate in detail the mechanism(s) responsible for transcriptional regulation of the genes SPAG6 and L1TD1 in NSCLCs...
January 5, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28091735/comprehensive-assessment-of-peripheral-blood-tcr%C3%AE-repertoire-in-infectious-mononucleosis-and-chronic-active-ebv-infection-patients
#8
Shenglin Liu, Qian Zhang, Dongli Huang, Wenli Zhang, Fengluan Zhong, Jia Feng, Xueru Chen, Qingxiang Meng, Xiaofan Chen, Wei Zhang, Hongyu Zhang
Epstein-Barr virus (EBV) primary infection is usually asymptomatic, but it sometimes progresses to infectious mononucleosis (IM). Occasionally, some people develop chronic active EBV infection (CAEBV) with underlying immunodeficiency, which belongs to a continuous spectrum of EBV-associated lymphoproliferative disorders (EBV(+) LPD) with heterogeneous clinical presentations and high mortality. It has been well established that T cell-mediated immune response plays a critical role in the disease evolution of EBV infection...
January 14, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28086829/genomic-pathways-modulated-by-twist-in-breast-cancer
#9
Farhad Vesuna, Yehudit Bergman, Venu Raman
BACKGROUND: The basic helix-loop-helix transcription factor TWIST1 (Twist) is involved in embryonic cell lineage determination and mesodermal differentiation. There is evidence to indicate that Twist expression plays a role in breast tumor formation and metastasis, but the role of Twist in dysregulating pathways that drive the metastatic cascade is unclear. Moreover, many of the genes and pathways dysregulated by Twist in cell lines and mouse models have not been validated against data obtained from larger, independant datasets of breast cancer patients...
January 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28079912/intravenous-immunoglobulin-in-the-treatment-of-primary-immunodeficiency-diseases
#10
Deirdre De Ranieri, Nana Sarkoah Fenny
Intravenous immunoglobulin (IVIG) has been used as antibody replacement therapy in primary immunodeficiency diseases (PIDDs) for more than 50 years. Its role as a therapeutic agent has expanded over the past couple of decades as its anti-inflammatory and immune-modulatory mechanisms of action have been elucidated. It is now used "off-label" to treat other autoimmune diseases. This article focuses on the role of IVIG in the treatment of PIDDs characterized by absent or deficient antibody production. Replacement doses are given on a monthly basis in these conditions as a prophylactic measure to prevent acute and serious bacterial infections...
January 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28079886/hiv-1-nef-is-released-in-extracellular-vesicles-derived-from-astrocytes-evidence-for-nef-mediated-neurotoxicity
#11
A Sami Saribas, Stephanie Cicalese, Taha Mohseni Ahooyi, Kamel Khalili, Shohreh Amini, Ilker Kudret Sariyer
Human immunodeficiency virus-associated neurological disorders (HANDs) affect the majority of AIDS patients and are a significant problem among HIV-1-infected individuals who live longer because of combined anti-retroviral therapies. HIV-1 utilizes a number of viral proteins and subsequent cytokine inductions to unleash its toxicity on neurons. Among HIV-1 viral proteins, Nef is a small protein expressed abundantly in astrocytes of HIV-1-infected brains and has been suggested to have a role in the pathogenesis of HAND...
January 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28079828/vaccination-with-10-valent-pneumococcal-conjugate-vaccine-in-infants-according-to-hiv-status
#12
Shabir A Madhi, Anthonet Koen, Lisa Jose, Nadia van Niekerk, Peter V Adrian, Clare Cutland, Nancy François, Javier Ruiz-Guiñazú, Juan-Pablo Yarzabal, Marta Moreira, Dorota Borys, Lode Schuerman
BACKGROUND: Phase III, open-label, single-center, controlled study in South Africa (ClinicalTrials.gov: NCT00829010) to evaluate immunogenicity, reactogenicity, and safety of the 10-valent pneumococcal non-typeable Haemophilus influenzae protein D conjugate vaccine (PHiD-CV) in human immunodeficiency virus (HIV)-infected (HIV+), HIV-exposed-uninfected (HEU), and HIV-unexposed-uninfected (HUU) children. METHODS: Children stratified by HIV status received PHiD-CV primary vaccination (age 6/10/14 weeks; coadministered with routine childhood vaccines) and booster dose (age 9-10 months)...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079645/the-role-of-patient-navigators-in-building-a-medical-home-for-multiply-diagnosed-hiv-positive-homeless-populations
#13
Mariana Sarango, Alexander de Groot, Melissa Hirschi, Chukwuemeka Anthony Umeh, Serena Rajabiun
CONTEXT: People living with human immunodeficiency virus (HIV) (PLWH) who are most at risk for falling out of HIV primary care and detectable viral loads include homeless and unstably housed individuals and those codiagnosed with behavioral health disorders. The patient-centered medical home (PCMH) is a model that promotes provision of comprehensive, patient-centered, accessible, coordinated, and quality care for patients. This initiative provided patient navigation to HIV-positive homeless and unstably housed individuals codiagnosed with a mental health or substance use disorder as a means to create an adapted PCMH to meet the specific needs of this population...
January 11, 2017: Journal of Public Health Management and Practice: JPHMP
https://www.readbyqxmd.com/read/28078662/low-immunoglobulin-e-flags-two-distinct-types-of-immune-dysregulation
#14
M Elkuch, V Greiff, C T Berger, M Bouchenaki, T Daikeler, A Bircher, A A Navarini, I Heijnen, M Recher
During the last two decades, hyper-immunoglobulin (Ig)E syndromes have been characterized clinically and molecularly in patients with genetically determined primary immunodeficiencies. However, the detection of low IgE levels, defined here as below detection limit in the routine clinical immunology laboratory, has received little attention. We analysed the association of serum IgA, IgM and IgG levels (including IgG subclasses) with low, normal or high serum IgE levels in patients evaluated in a single-centre out-patient immunodeficiency and allergy clinic...
January 11, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28077132/foxn1-deficient-nude-severe-combined-immunodeficiency
#15
REVIEW
Ioanna A Rota, Fatima Dhalla
Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Diagnosis relies on testing for FOXN1 mutations, which allows genetic counselling and guides therapeutic management...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28073681/association-of-cytoplasmic-cxcr4-with-loss-of-epithelial-marker-and-activation-of-erk1-2-and-akt-signaling-pathways-in-non-small-cell-lung%C3%A2-cancer
#16
Nabil F Saba, Yuxiang Wang, Hongpeng Fu, Lydia Koenig, Fadlo R Khuri, Dong M Shin, Zhuo Georgia Chen
OBJECTIVES: Compelling evidence demonstrates that CXC-chemokine receptor 4 (CXCR4) is involved in tumor invasion, angiogenesis, metastasis, and resistance to chemotherapy in addition to being one of the coreceptors for T-tropic human immunodeficiency virus entry into T cells. However, it remains controversial as to how to identify functionally activated CXCR4 in tumor biopsies, which would assist in determining which patients may benefit from potential CXCR4-targeted therapy. MATERIALS AND METHODS: Immunohistochemistry (IHC) staining on archival tissues of patients with non-small-cell lung cancer (NSCLC) was used to detect a panel of biomarkers, including phospho-ERK1/2, phospho-AKT, and E-cadherin, which are relevant to downstream signaling of CXCR4 and epithelial to mesenchymal transition (EMT)...
December 22, 2016: Clinical Lung Cancer
https://www.readbyqxmd.com/read/28073042/rapid-infusions-of-human-normal-immunoglobulin-50g-l-are-safe-and-well-tolerated-in-immunodeficiencies-and-immune-thrombocytopenia
#17
Giuseppe Spadaro, Alessandra Vultaggio, A Alberto Bosi, Dietmar Reichert, Jan Janssen, Donatella Lamacchia, Liliana Nappi, Antonio Pecoraro, Cinzia Milito, Andrea Ferraro, Andrea Matucci, Francesca Bacchiarri, Valentina Carrai, Azra Hibbeler, Elisabet Speckman, Chiara Guarnieri, Serena Bongiovanni, Isabella Quinti
Intravenous immunoglobulin (IVIg) is accepted as an effective and well-tolerated treatment for primary and secondary immunodeficiencies (ID) and immune thrombocytopenia (ITP). Adverse reactions of IVIg are usually mild, comprising transient flu-like symptoms, change in blood pressure and tachycardia. However IVIg therapy can be burdensome for both patients and healthcare facilities, since the infusion may take up to 4h to administer. The objective of our multicentre, prospective, open-label phase III trial was to evaluate the tolerability and safety of human normal immunoglobulin 50g/l (Ig VENA) at high intravenous infusion rates in adult patients with ID and ITP who had previously tolerated IVIg treatment, by progressively increasing infusion rate up to 8ml/kg/hr...
January 7, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28072956/-clinical-and-immunological-analysis-of-the-patient-with-autoimmunity-due-to-germline-stat3-gain-of-function-mutation
#18
Y Ding, Y Zhang, Y P Wang, H Y Zhao, X M Chen, X H Xue, X M Bai, Y F An, Z Y Zhang, X M Tang, X D Zhao
Objective: To investigate the clinical and immunological laboratory features and gene mutation in a female patient who carried a germline gain-of-function mutation in STAT3. Method: A patient with lymphadenopathy and pancytopenia, visited the Department of Rheumatology and Immunology of Children's Hospital of Chongqing Medical University in May 2016. The clinical and laboratory characteristics, results of immunophenotyping and exome sequencing were analyzed retrospectively and related literature was reviewed...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28072951/-futher-strengthen-the-immunoglobulin-g-replacement-therapy-of-primary-immunodeficiency-diseases
#19
H W Mao, X D Zhao
No abstract text is available yet for this article.
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28068510/current-knowledge-and-priorities-for-future-research-in-late-effects-after-hematopoietic-stem-cell-transplantation-hct-for-severe-combined-immunodeficiency-patients-a-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international
#20
REVIEW
Jennifer Heimall, Jennifer Puck, Rebecca Buckley, Thomas A Fleisher, Andrew R Gennery, Benedicte Neven, Mary Slatter, Elie Haddad, Luigi D Notarangelo, K Scott Baker, Andrew C Dietz, Christine Duncan, Michael A Pulsipher, Mort J Cowan
Severe combined immunodeficiency (SCID) is 1 of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency. Historically, SCID was diagnosed in infants who presented with opportunistic infections within the first year of life. With newborn screening (NBS) for SCID in most of the United States, the majority of infants with SCID are now diagnosed and treated in the first 3.5 months of life; however, in the rest of the world, the lack of NBS means that most infants with SCID still present with infections...
January 6, 2017: Biology of Blood and Marrow Transplantation
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