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primary immunodeficiencies

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https://www.readbyqxmd.com/read/29684076/differences-in-labour-participation-between-people-living-with-hiv-and-the-general-population-results-from-spain-along-the-business-cycle
#1
Luz María Peña Longobardo, Juan Oliva-Moreno
BACKGROUND: HIV/AIDS (Human immunodeficiency virus/Acquired immune deficiency syndrome) not only has a strong impact on the health of the worldwide population but also affects the labour status of HIV-positive people. The primary aim of this paper is to compare the labour participation of people living with HIV (PlwHIV) with the labour participation of the general population along the last business cycle in Spain. METHOD: The data used are from the Hospital Survey on HIV-AIDS, with a total sample size of 4,651 PlwHIV and the Labour Force Survey from 2001 to 2010, with a total sample size of 660,674 individuals as general population...
2018: PloS One
https://www.readbyqxmd.com/read/29681240/pembrolizumab-combined-with-stereotactic-body-radiotherapy-in-a-patient-with-human-immunodeficiency-virus-and-advanced-non-small-cell-lung-cancer-a-case-report
#2
Dongqi Li, Chuanchun He, Yaoxiong Xia, Yaxi Du, Jing Zhang
BACKGROUND: Pembrolizumab has significantly improved outcomes in patients with advanced non-small cell lung cancer. Combining programmed death-1 inhibitor with stereotactic body radiotherapy showed a slight toxicity and good benefits in recent clinical trials. However, patients infected with human immunodeficiency virus were excluded from most trials because it was assumed that their anti-tumor immunity was compromised compared with immunocompetent patients. CASE PRESENTATION: In June 2016, a 52-year-old Chinese man presented with human immunodeficiency virus and lung adenocarcinoma (T1bN3M1b)...
April 23, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29680106/cost-of-tuberculosis-diagnosis-and-treatment-in-patients-with-hiv-a-systematic-literature-review
#3
REVIEW
Noemia Teixeira de Siqueira-Filha, Rosa Legood, Aracele Cavalcanti, Andreia Costa Santos
OBJECTIVES: To summarize the costs of tuberculosis (TB) diagnosis and treatment in human immunodeficiency virus (HIV)-infected patients and to assess the methodological quality of these studies. METHODS: We included cost, cost-effectiveness, and cost-utility studies that reported primary costing data, conducted worldwide and published between 1990 and August 2016. We retrieved articles in PubMed, Embase, EconLit, CINAHL plus, and LILACS databases. The quality assessment was performed using two guidelines-the Consolidated Health Economic Evaluation Reporting Standards and the Tool to Estimate Patient's Costs...
April 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29676363/lymphomatoid-granulomatosis-a-case-series-from-south-india
#4
Elanthenral Sigamani, Jagan Chandramohan, Sheila Nair, Geeta Chacko, Meera Thomas, Leni Grace Mathew, Susanne Pulimood, Marie Therese Manipadam
Context: Lymphomatoid granulomatosis (LYG) is a rare B-lymphoproliferative disorder characterised by an angiocentric and angiodestructive pattern along with Epstein - Barr virus (EBV) association. It is one of the diagnostic challenges in lymphoma pathology. Deregulation of EBV immune surveillance is one of the narrated hypotheses in the literature. Extrapulmonary manifestations are rare with LYG. Morphological grading is done based on the number of EBV-positive B cells, which is useful to strategize treatment protocol...
April 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29675923/latent-therapeutic-demand-model-for-the-immunoglobulin-replacement-therapy-of-primary-immune-deficiency-disorders-in-the-usa
#5
J S Stonebraker, J Hajjar, J S Orange
BACKGROUND AND OBJECTIVES: Our research aim is to model latent therapeutic demand (LTD) for the immunoglobulin replacement therapy (IgGRT) of primary immune deficiency disorders (PIDDs) in the USA. Given the high level of variability of IgGRT use and major differences among American and European practices in the management of patients with PIDDs, we develop a USA-specific LTD model for common variable immune deficiency (CVID), hyper IGM syndrome, severe combined immune deficiency, Wiskott-Aldrich syndrome and X-linked agammaglobulinemia (XLA)...
April 20, 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29675737/use-of-genetic-testing-for-primary-immunodeficiency-patients
#6
Jennifer R Heimall, David Hagin, Joud Hajjar, Sarah E Henrickson, Hillary S Hernandez-Trujillo, Yuval Tan, Lisa Kobrynski, Kenneth Paris, Troy R Torgerson, James W Verbsky, Richard L Wasserman, Elena W Y Hsieh, Jack J Blessing, Janet S Chou, Monica G Lawrence, Rebecca A Marsh, Sergio D Rosenzweig, Jordan S Orange, Roshini S Abraham
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey...
April 19, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29675019/enhanced-akt-phosphorylation-of-circulating-b-cells-in-patients-with-activated-pi3k%C3%AE-syndrome
#7
Takaki Asano, Satoshi Okada, Miyuki Tsumura, Tzu-Wen Yeh, Kanako Mitsui-Sekinaka, Yuki Tsujita, Youjiro Ichinose, Akira Shimada, Kunio Hashimoto, Taizo Wada, Kohsuke Imai, Osamu Ohara, Tomohiro Morio, Shigeaki Nonoyama, Masao Kobayashi
Activated PI3Kδ syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and defective IgG production. Heterozygous mutations in PIK3CD, PIK3R1 , or PTEN , which are related to the hyperactive phosphoinositide 3-kinase (PI3K) signaling, were recently presented to cause APDS1 or APDS2 (APDSs), or APDS-like (APDS-L) disorder. In this study, we examined the AKT phosphorylation of peripheral blood lymphocytes and monocytes in patients with APDSs and APDS-L by using flow cytometry...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29672871/sex-differences-in-the-contemporary-management-of-hiv-patients-admitted-for-acute-myocardial-infarction
#8
Gbolahan O Ogunbayo, Katrina Bidwell, Naoki Misumida, Le Dung Ha, Ahmed Abdel-Latif, Claude S Elayi, Susan Smyth, Adrian W Messerli
BACKGROUND: Studies have reported sex differences in the management of patients with acute myocardial infarction (AMI) in the general population. This observational study is designed to evaluate whether sex differences exist in the contemporary management of human immunodeficiency virus (HIV) patients admitted for diagnosis of AMI. HYPOTHESIS: There is no difference in management of HIV patients with AMI. METHODS: Using the National Inpatient Sample database, we identified patients with a primary diagnosis of AMI and a secondary diagnosis of HIV...
April 19, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29672222/macrophage-derived-extracellular-vesicles-mediates-smooth-muscle-hyperplasia-role-of-altered-mirna-cargo-in-response-to-hiv-infection-and-substance-abuse
#9
Himanshu Sharma, Mahendran Chinnappan, Stuti Agarwal, Pranjali Dalvi, Sumedha Gunewardena, Amy O'Brien-Ladner, Navneet K Dhillon
Our previous studies consistently demonstrate enhanced pulmonary vascular remodeling in HIV-infected intravenous drug users, and in simian immunodeficiency virus-infected macaques or HIV-transgenic rats exposed to opioids or cocaine. Although we reported an associated increase in perivascular inflammation, the exact role of inflammatory cells in the development of pulmonary vascular remodeling remains unknown. In this study, HIV-infected and cocaine (H+C)-treated human monocyte derived macrophages released a higher number of extracellular vesicles (EVs), compared to HIV-infected or uninfected cocaine-treated macrophages, with a significant increase in the particle size range to 100-150 nm...
April 19, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29671114/droplet-digital-pcr-based-chimerism-analysis-for-primary-immunodeficiency-diseases
#10
Tsubasa Okano, Yuki Tsujita, Hirokazu Kanegane, Kanako Mitsui-Sekinaka, Kay Tanita, Satoshi Miyamoto, Tzu-Wen Yeh, Motoi Yamashita, Naomi Terada, Yumi Ogura, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio
OBJECTIVE: In the current study, we aimed to accurately evaluate donor/recipient or male/female chimerism in samples from patients who underwent hematopoietic stem cell transplantation (HSCT). METHODS: We designed the droplet digital polymerase chain reaction (ddPCR) for SRY and RPP30 to detect the male/female chimerism. We also developed mutation-specific ddPCR for four primary immunodeficiency diseases. RESULTS: The accuracy of the male/female chimerism analysis using ddPCR was confirmed by comparing the results with those of conventional methods (fluorescence in situ hybridization and short tandem repeat-PCR) and evaluating dilution assays...
April 18, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29670631/x-linked-lymphoproliferative-disease-type-1-a-clinical-and-molecular-perspective
#11
REVIEW
Neelam Panchal, Claire Booth, Jennifer L Cannons, Pamela L Schwartzberg
X-linked lymphoproliferative disease (XLP) was first described in the 1970s as a fatal lymphoproliferative syndrome associated with infection with Epstein-Barr virus (EBV). Features include hemophagocytic lymphohistiocytosis (HLH), lymphomas, and dysgammaglobulinemias. Molecular cloning of the causative gene, SH2D1A , has provided insight into the nature of disease, as well as helped characterize multiple features of normal immune cell function. Although XLP type 1 (XLP1) provides an example of a primary immunodeficiency in which patients have problems clearing primarily one infectious agent, it is clear that XLP1 is also a disease of severe immune dysregulation, even independent of EBV infection...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29666621/the-role-of-aire-in-the-immunity-against-candida-albicans-in-a-model-of-human-macrophages
#12
Jose Antonio Tavares de Albuquerque, Pinaki Prosad Banerjee, Angela Castoldi, Royce Ma, Nuria Bengala Zurro, Leandro Hideki Ynoue, Christina Arslanian, Marina Uchoa Wall Barbosa-Carvalho, Joya Emilie de Menezes Correia-Deur, Fernanda Guimarães Weiler, Magnus Regios Dias-da-Silva, Marise Lazaretti-Castro, Luis Alberto Pedroza, Niels Olsen Saraiva Câmara, Emily Mace, Jordan Scott Orange, Antonio Condino-Neto
Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a primary immunodeficiency caused by mutations in the autoimmune regulator gene ( AIRE ). Patients with AIRE mutations are susceptible to Candida albicans infection and present with autoimmune disorders. We previously demonstrated that cytoplasmic AIRE regulates the Syk-dependent Dectin-1 pathway. In this study, we further evaluated direct contact with fungal elements, synapse formation, and the response of macrophage-like THP-1 cells to C...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29666292/human-immunodeficiency-virus-tat-protein-aids-v-region-somatic-hypermutation-in-human-b-cells
#13
Xiaohua Wang, Zhi Duan, Guojun Yu, Manxia Fan, Matthew D Scharff
Long-term survivors of human immunodeficiency virus (HIV) infection have been shown to have a greatly increased incidence of B cell lymphomas. This increased lymphomagenesis suggests some link between HIV infection and the destabilization of the host B cell genome, a phenomenon also suggested by the extraordinary high frequency of mutation, insertion, and deletion in the broadly neutralizing HIV antibodies. Since HIV does not infect B cells, the molecular mechanisms of this genomic instability remain to be fully defined...
April 17, 2018: MBio
https://www.readbyqxmd.com/read/29664709/non-clinical-efficacy-and-safety-studies-on-g1xcgd-a-lentiviral-vector-for-ex-vivo-gene-therapy-of-x-linked-chronic-granulomatous-disease
#14
Christian Brendel, Michael Rothe, Giorgia Santilli, Sabine Charrier, Stefan Stein, Hana Kunkel, Daniela Abriss, Uta Müller-Kuller, Bobby Gaspar, Ute Modlich, Anne Galy, Axel Schambach, Adrian J Thrasher, Manuel Grez
Chronic granulomatous disease (CGD) is a debilitating primary immunodeficiency affecting phagocyte function due to the absence of nicotinamide dinucleotide phosphate (NADPH) oxidase activity. The vast majority of CGD patients in the Western world have mutations within the X-linked CYBB gene encoding for gp91phox (NOX2), the redox center of the NADPH oxidase complex (XCGD). Current treatments of XCGD are not entirely satisfactory, and prior attempts at autologous gene therapy using gammaretrovirus vectors did not provide long-term curative effects...
April 17, 2018: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/29662026/the-hard-way-towards-an-antibody-based-hiv-1-env-vaccine-lessons-from-other-viruses
#15
REVIEW
Oliver Ringel, Vincent Vieillard, Patrice Debré, Jutta Eichler, Hildegard Büning, Ursula Dietrich
Although effective antibody-based vaccines have been developed against multiple viruses, such approaches have so far failed for the human immunodeficiency virus type 1 (HIV-1). Despite the success of anti-retroviral therapy (ART) that has turned HIV-1 infection into a chronic disease and has reduced the number of new infections worldwide, a vaccine against HIV-1 is still urgently needed. We discuss here the major reasons for the failure of "classical" vaccine approaches, which are mostly due to the biological properties of the virus itself...
April 15, 2018: Viruses
https://www.readbyqxmd.com/read/29659363/-late-diagnosis-of-whim-sydrome
#16
María V Paolini, Silvia Danielian, Emma Prieto, María Fernanda Tami, Matías M Oleastro, Diego S Fernández Romero
WHIM syndrome is a primary autosomal dominant immuno deficiency due to CXCR4 mutations characterized by mucocutaneous warts, hypogammaglobulinemia, recurrent bacterial infections and myelokathesis. Treatment consists in prophylactic antibiotics, immunoglobulin replacement and granulocyte or granulocyte/monocyte colony stimulating factors. We present the case of a 21 year old woman who showed leukopenia at 10 months of age and one year later multiple infections with hypogammaglobulinemia requiring intravenous immunoglobulin...
2018: Medicina
https://www.readbyqxmd.com/read/29658452/-clinical-features-and-gene-mutations-of-primary-immunodeficiency-disease-an-analysis-of-7-cases
#17
Jun-Chao Wang, Xiao-Xue Liu
This research investigated the clinical features of immunodeficiency disease and the features of the mutation of its pathogenic genes. All 7 patients were boys aged 5 months to 4 years and 6 months and had a history of recurrent respiratory infection and pneumonia, low levels of IgM and IgG, and abnormal absolute values or percentages of lymphocyte subsets. High-throughput sequencing showed c.1684C>T mutations in the BTK gene in patient 1 and IVS8+2T>C splice site mutations in the BTK gene in patient 2...
April 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29657930/establishment-and-development-of-the-first-biobank-of-inflammatory-bowel-disease-suspected-to-primary-immunodeficiency-diseases-in-iran
#18
Roya Sherkat, Soodabeh Rostami, Majid Yaran, Mohammad Hassan Emami, Hosein Saneian, Hamid Tavakoli, Peyman Adibi, Mahdieh Behnam, Saba Sheykhbahaei, Bahram Bagherpour, Razieh Khoshnevisan, Somayeh Najafi
Background: Inflammatory bowel disease (IBD) might be an immunodeficiency rather than an excessive inflammatory reaction. IBD, suspected to primary immunodeficiency diseases biobank (IBDSPIDB) as a resource for researches can help improve the prevention, diagnosis, and illness treatment and the health promotion throughout the society. Therefore, we launched the biobank of IBDSPID for the first time in Iran. Materials and Methods: This study was designed to provide the IBDSPIDB to have a high-quality DNA, RNA, and cDNA...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29651973/the-clinical-and-immunological-features-of-patients-with-primary-antibody-deficiencies
#19
Gholamreza Azizi, Yasser Bagheri, Marzieh Tavakol, Forough Askarimoghaddam, Kiyoomars Poorrostami, Hosein Rafiemanesh, Reza Yazdani, Fatemeh Kiaee, Sima Habibi, Kosar Abouhamzeh, Hamed Mohammadi, Mostafa Qorbani, Hassan Abolhassani, Asghar Aghamohammadi
BACKGROUND: Primary antibody deficiency (PAD) comprises a range of diseases from early to late terminal B cells defects and is associated with the various clinical complications. METHODS: A total of 461 patients (311 males and 150 females) with PADs enrolled in the retrospective cohort study and for all patients' demographic information, clinical records and laboratory data were collected to investigate clinical complications. RESULTS: The most prevalent first presentations of immunodeficiency were respiratory tract infections in 63...
April 12, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29651287/neutralizing-anti-cytokine-autoantibodies-against-interferon-%C3%AE-in-immunodysregulation-polyendocrinopathy-enteropathy-x-linked
#20
Jacob M Rosenberg, Maria E Maccari, Federica Barzaghi, Eric J Allenspach, Claudio Pignata, Giovanna Weber, Troy R Torgerson, Paul J Utz, Rosa Bacchetta
Anti-cytokine autoantibodies (ACAAs) have been described in a growing number of primary immunodeficiencies with autoimmune features, including autoimmune polyendocrine syndrome type I (APS-1), a prototypical disease of defective T cell-mediated central tolerance. Whether defects in peripheral tolerance lead to similar ACAAs is unknown. Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) is caused by mutations in FOXP3 , a master regulator of T regulatory cells (Treg ), and consequently results in defective T cell-mediated peripheral tolerance...
2018: Frontiers in Immunology
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