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primary immunodeficiencies

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https://www.readbyqxmd.com/read/28091735/comprehensive-assessment-of-peripheral-blood-tcr%C3%AE-repertoire-in-infectious-mononucleosis-and-chronic-active-ebv-infection-patients
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28067901/targeting-samhd1-with-the-vpx-protein-to-improve-cytarabine-therapy-for-hematological-malignancies
#14
Nikolas Herold, Sean G Rudd, Linda Ljungblad, Kumar Sanjiv, Ida Hed Myrberg, Cynthia B J Paulin, Yaser Heshmati, Anna Hagenkort, Juliane Kutzner, Brent D G Page, José M Calderón-Montaño, Olga Loseva, Ann-Sofie Jemth, Lorenzo Bulli, Hanna Axelsson, Bianca Tesi, Nicholas C K Valerie, Andreas Höglund, Julia Bladh, Elisée Wiita, Mikael Sundin, Michael Uhlin, Georgios Rassidakis, Mats Heyman, Katja Pokrovskaja Tamm, Ulrika Warpman-Berglund, Julian Walfridsson, Sören Lehmann, Dan Grandér, Thomas Lundbäck, Per Kogner, Jan-Inge Henter, Thomas Helleday, Torsten Schaller
The cytostatic deoxycytidine analog cytarabine (ara-C) is the most active agent available against acute myelogenous leukemia (AML). Together with anthracyclines, ara-C forms the backbone of AML treatment for children and adults. In AML, both the cytotoxicity of ara-C in vitro and the clinical response to ara-C therapy are correlated with the ability of AML blasts to accumulate the active metabolite ara-C triphosphate (ara-CTP), which causes DNA damage through perturbation of DNA synthesis. Differences in expression levels of known transporters or metabolic enzymes relevant to ara-C only partially account for patient-specific differential ara-CTP accumulation in AML blasts and response to ara-C treatment...
January 9, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28062389/internet-based-hiv-prevention-with-at-home-sexually-transmitted-infection-testing-for-young-men-having-sex-with-men-study-protocol-of-a-randomized-controlled-trial-of-keep-it-up-2-0
#15
Brian Mustanski, Krystal Madkins, George J Greene, Jeffrey T Parsons, Brent A Johnson, Patrick Sullivan, Michael Bass, Rebekah Abel
BACKGROUND: Human immunodeficiency virus (HIV) infections are increasing among young men who have sex with men (YMSM), yet few HIV prevention programs have studied this population. Keep It Up! (KIU!), an online HIV prevention program tailored to diverse YMSM, was developed to fill this gap. The KIU! 2.0 randomized controlled trial (RCT) was launched to establish intervention efficacy. OBJECTIVE: The objective of the KIU! study is to advance scientific knowledge of technology-based behavioral HIV prevention, as well as improve public health by establishing the efficacy of an innovative electronic health (eHealth) prevention program for ethnically and racially diverse YMSM...
January 7, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28060868/non-communicable-disease-preventive-screening-by-hiv-care-model
#16
Corinne M Rhodes, Yuchiao Chang, Susan Regan, Virginia A Triant
IMPORTANCE: The Human Immunodeficiency Virus (HIV) epidemic has evolved, with an increasing non-communicable disease (NCD) burden emerging and need for long-term management, yet there are limited data to help delineate the optimal care model to screen for NCDs for this patient population. OBJECTIVE: The primary aim was to compare rates of NCD preventive screening in persons living with HIV/AIDS (PLWHA) by type of HIV care model, focusing on metabolic/cardiovascular disease (CVD) and cancer screening...
2017: PloS One
https://www.readbyqxmd.com/read/28060756/baicalein-has-protective-effects-on-the-17%C3%AE-estradiol-induced-transformation-of-breast-epithelial-cells
#17
Yan Chen, Jing Wang, Duan-Yang Hong, Lin Chen, Yan-Yan Zhang, Yi-Ni Xu, Di Pan, Ling-Yun Fu, Ling Tao, Hong Luo, Xiang-Chun Shen
Epidemiologic and systematic studies have indicated that flavonoid consumption is associated with a lower incidence of breast cancer. Baicalein is the primary flavonoid derived from the roots of Scutellaria baicalensis Georgi. In the current study, the long-term exposure of breast epithelial cells to 17β-estradiol (E2) was used to investigate the chemopreventive potential of baicalein on neoplastic transformation. The results demonstrated that baicalein significantly inhibited E2-induced cell growth, motility, and invasiveness, and suppressed E2-induced misshapen acini formation in 3D cultures...
January 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28057259/modified-vaccinia-virus-ankara-history-value-in-basic-research-and-current-perspectives-for-vaccine-development
#18
REVIEW
A Volz, G Sutter
Safety tested Modified Vaccinia virus Ankara (MVA) is licensed as third-generation vaccine against smallpox and serves as a potent vector system for development of new candidate vaccines against infectious diseases and cancer. Historically, MVA was developed by serial tissue culture passage in primary chicken cells of vaccinia virus strain Ankara, and clinically used to avoid the undesirable side effects of conventional smallpox vaccination. Adapted to growth in avian cells MVA lost the ability to replicate in mammalian hosts and lacks many of the genes orthopoxviruses use to conquer their host (cell) environment...
2017: Advances in Virus Research
https://www.readbyqxmd.com/read/28050511/oral-manifestations-of-job-s-syndrome-in-a-paediatric-dental-patient-a-case-report
#19
Jeswin James, Anupam Kumar Thekkeveetil, Kannan Vadakkepurayil
Job's syndrome or Hyperimmunoglobulin E Syndrome (HIES) is a rare primary immunodeficiency with marked increase in serum immunoglobulin E (IgE) levels and eczematous dermatitis. Individuals with HIES share characteristic facial features, with many oral manifestations like retained deciduous teeth, fissured tongue, missing permanent tooth buds, recurrent oral candidiasis, oral mucosal and gingival lesions. Two forms of disease have been identified based on the defective gene as autosomal dominant form and autosomal recessive form...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28043592/next-generation-sequencing-based-user-friendly-platforms-for-drug-resistant-tuberculosis-diagnosis-a-promise-for-the-near-future
#20
David L Dolinger, Rebecca E Colman, David M Engelthaler, Timothy C Rodwell
Since 2002, there has been a gradual worldwide 1.3% annual decrease in the incidence of tuberculosis (TB). This is an encouraging statistic; however, it will not achieve the World Health Organization's goal of eliminating TB by 2050, and it is being compounded by the persistent global incidence of drug-resistant tuberculosis (DR-TB) acquired by transmission and by treatment pressure. One key to effectively control tuberculosis and the spread of multiresistant strains is accurate information pertaining to drug resistance and susceptibility...
December 2016: International Journal of Mycobacteriology
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