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Combined immunodeficiency

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https://www.readbyqxmd.com/read/27910095/a-comparison-of-methods-for-estimating-the-incidence-of-human-immunodeficiency-virus-infection-in-repeat-blood-donors
#1
Donald J Brambilla, Michael P Busch, Roger Y Dodd, Simone A Glynn, Steven H Kleinman
BACKGROUND: The incidence of human immunodeficiency virus (HIV) in repeat blood donors has been estimated using seven methods. Although incidence is always calculated as cases per person-time, approaches to selecting cases and calculating person-time vary. Incidence estimates have not been compared among methods. STUDY DESIGN AND METHODS: The seven methods were compared in a simulation study. Because three methods used information from donations made before an estimation interval, 8 years of donation and infection history were simulated, and Years 7 and 8 were treated as the estimation interval for all methods...
December 1, 2016: Transfusion
https://www.readbyqxmd.com/read/27903712/the-myeloma-stem-cell-concept-revisited-from-phenomenology-to-operational-terms
#2
REVIEW
Hans Erik Johnsen, Martin Bøgsted, Alexander Schmitz, Julie Støve Bødker, Tarec Christoffer El-Galaly, Preben Johansen, Peter Valent, Niklas Zojer, Els Van Valckenborgh, Karin Vanderkerken, Mark van Duin, Pieter Sonneveld, Martin Perez-Andres, Alberto Orfao, Karen Dybkær
The concept of the myeloma stem cell may have important therapeutic implications, yet its demonstration has been hampered by a lack of consistency in terms and definitions. Here, we summarize the current documentation and propose single-cell in vitro studies for future translational studies. By the classical approach, a CD19(-)/CD45(low/-)/CD38(high)/CD138(+) malignant plasma cell, but not the CD19(+)/CD38(low/-) memory B cell compartment, is enriched for tumorigenic cells that initiate myeloma in xenografted immunodeficient mice, supporting that myeloma stem cells are present in the malignant PC compartment...
December 2016: Haematologica
https://www.readbyqxmd.com/read/27903364/-a-meta-analysis-of-hiv-seroprevalence-in-pregnant-women-with-syphilis-and-the-impact-of-syphilis-infection-on-mother-to-child-hiv-transmission
#3
T T Wang, Y Xu, Z Z Li, L Z Chen
Objective: To estimate HIV seroprevalence among pregnant women with syphilis and evaluate the influence of syphilis infection on mother-to-child-transmission (MTCT) of HIV by meta-analysis. Methods: We conducted a systematic literature search for 1 678 articles related to maternal syphilis and HIV infection published until October 1(st) 2015 using the PubMed, Web of Science, Chinese Web of Knowledge, Wanfang, Weipu, and SinoMed databases and evaluated the quality of each papers using the STROBE checklist, and the keywords were " pregnant women/maternal/pregnancy" , "syphilis/AIDS" , "HIV/human immunodeficiency virus" , "mother- to-child transimission/vertical transmission" ...
November 6, 2016: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/27903274/breadth-and-magnitude-of-antigen-specific-antibody-responses-in-the-control-of-plasma-viremia-in-simian-immunodeficiency-virus-infected-macaques
#4
Bapi Pahar, Carys S Kenway-Lynch, Preston Marx, Sudesh K Srivastav, Celia LaBranche, David C Montefiori, Arpita Das
BACKGROUND: Increasing evidence suggests an unexpected potential for non-neutralizing antibodies to prevent HIV infection. Consequently, identification of functional linear B-cell epitopes for HIV are important for developing preventative and therapeutic strategies. We therefore explored the role of antigen-specific immune responses in controlling plasma viremia in SIV infected rhesus macaques. METHODS: Thirteen rhesus macaques were inoculated either intravaginally or intrarectally with SIVMAC251...
December 1, 2016: Virology Journal
https://www.readbyqxmd.com/read/27902982/limitation-of-simultaneous-analysis-of-t-cell-receptor-and-%C3%AE%C2%BA-deleting-recombination-excision-circles-based-on-multiplex-real-time-polymerase-chain-reaction-in-common-variable-immunodeficiency-patients
#5
Faranaz Atschekzei, Fareed Ahmad, Torsten Witte, Roland Jacobs, Reinhold E Schmidt
AIM OF STUDY: We used a triplex real-time polymerase chain reaction (PCR) to classify our common variable immunodeficiency (CVID) patients into distinct groups according to the amount of their T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs). MATERIALS AND METHODS: TREC and KREC analysis was performed using a multiplex real-time PCR assay. The T- and B-lymphocyte subsets were measured by flow cytometry. RESULTS: The copy number of TRECs and KRECs was significantly reduced in CVID patients compared to healthy controls...
December 1, 2016: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/27902753/emphysema-distribution-and-diffusion-capacity-predict-emphysema-progression-in-human-immunodeficiency-virus-infection
#6
Janice M Leung, Andrea Malagoli, Antonella Santoro, Giulia Besutti, Guido Ligabue, Riccardo Scaglioni, Darlene Dai, Cameron Hague, Jonathon Leipsic, Don D Sin, Sf Paul Man, Giovanni Guaraldi
BACKGROUND: Chronic obstructive pulmonary disease (COPD) and emphysema are common amongst patients with human immunodeficiency virus (HIV). We sought to determine the clinical factors that are associated with emphysema progression in HIV. METHODS: 345 HIV-infected patients enrolled in an outpatient HIV metabolic clinic with ≥2 chest computed tomography scans made up the study cohort. Images were qualitatively scored for emphysema based on percentage involvement of the lung...
2016: PloS One
https://www.readbyqxmd.com/read/27902714/evaluation-of-the-activity-of-lamivudine-and-zidovudine-against-ebola-virus
#7
Yu Cong, Julie Dyall, Brit J Hart, Lisa Evans DeWald, Joshua C Johnson, Elena Postnikova, Huanying Zhou, Robin Gross, Oscar Rojas, Isis Alexander, Nicole Josleyn, Tengfei Zhang, Julia Michelotti, Krisztina Janosko, Pamela J Glass, Mike Flint, Laura K McMullan, Christina F Spiropoulou, Tim Mierzwa, Rajarshi Guha, Paul Shinn, Sam Michael, Carleen Klumpp-Thomas, Crystal McKnight, Craig Thomas, Ann E Eakin, Kathleen G O'Loughlin, Carol E Green, Paul Catz, Jon C Mirsalis, Anna N Honko, Gene G Olinger, Richard S Bennett, Michael R Holbrook, Lisa E Hensley, Peter B Jahrling
In the fall of 2014, an international news agency reported that patients suffering from Ebola virus disease (EVD) in Liberia were treated successfully with lamivudine, an antiviral drug used to treat human immunodeficiency virus-1 and hepatitis B virus infections. According to the report, 13 out of 15 patients treated with lamivudine survived and were declared free from Ebola virus disease. In this study, the anti-Ebola virus (EBOV) activity of lamivudine and another antiretroviral, zidovudine, were evaluated in a diverse set of cell lines against two variants of wild-type EBOV...
2016: PloS One
https://www.readbyqxmd.com/read/27898577/decline-in-herpes-simplex-virus-type-2-among-non-injecting-heroin-and-cocaine-users-in-new-york-city-2005-to-2014-prospects-for-avoiding-a-resurgence-of-human-immunodeficiency-virus
#8
Don C Des Jarlais, Kamyar Arasteh, Jonathan Feelemyer, Courtney McKnight, Susan Tross, David C Perlman, Aimee N C Campbell, Holly Hagan, Hannah L F Cooper
BACKGROUND: Herpes simplex virus type 2 (HSV-2) infection increases both susceptibility to and transmissibility of human immunodeficiency virus (HIV), and HSV-2 and HIV are often strongly associated in HIV epidemics. We assessed trends in HSV-2 prevalence among non-injecting drug users (NIDUs) when HIV prevalence declined from 16% to 8% among NIDUs in New York City. METHODS: Subjects were current non-injecting users of heroin and/or cocaine and who had never injected illicit drugs...
November 28, 2016: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/27896807/fdg-pet-ct-imaging-of-therapeutic-response-in-granulomatous-lymphocytic-interstitial-lung-disease-glild-in-common-variable-immunodeficiency-cvid
#9
S Jolles, E Carne, M Brouns, T El-Shanawany, P Williams, C Marshall, P Fielding
Common variable immunodeficiency (CVID) is the most common severe adult primary immunodeficiency and is characterized by a failure to produce antibodies leading to recurrent predominantly sinopulmonary infections. Improvements in the prevention and treatment of infection with immunoglobulin replacement and antibiotics have resulted in malignancy, autoimmune, inflammatory and lymphoproliferative disorders emerging as major clinical challenges in the management of patients who have CVID. In a proportion of CVID patients, inflammation manifests as granulomas that frequently involve the lungs, lymph nodes, spleen and liver and may affect almost any organ...
November 28, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27894450/immunodeficiency-presenting-as-an-undiagnosed-disease
#10
REVIEW
John M Routes, James W Verbsky
Although primary immunodeficiencies typically present with recurrent, chronic, or severe infections, autoimmune manifestations frequently accompany these disorders and may be the initial clinical manifestations. The presence of 2 or more autoimmune disorders, unusual severe atopic disease, or a combination of these disorders should lead a clinician to consider primary immunodeficiency disorders.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27890707/novel-mutation-in-dock8-hies-with-severe-phenotype-and-successful-transplantation
#11
Latifa Al Shekaili, Farrukh Sheikh, Sulaiman Al Gazlan, Hasan Al Dhekri, Hamoud Al Mousa, Abdulaziz Al Ghonaium, Bander Al Saud, Saleh Al Mohsen, Agha M Rehan Khaliq, Safiah Al Sumayli, Mufarreh Al Zahrani, Anas Dababo, Ammar AlKawi, Abbas Hawwari, Rand Arnaout
BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Different mutations in the DOCK8 gene can lead to variable severity of the disease. OBJECTIVE: We evaluated the genetic mutations in three related patients with severe clinical manifestations suggestive of AR HIES. We also explored whether treatment with stem cell transplantation could lead to complete disease resolution...
November 23, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27890234/current-status-of-dedicator-of-cytokinesis-associated-immunodeficiency-dock8-and-dock2
#12
REVIEW
Dimana Dimitrova, Alexandra F Freeman
DOCK8 deficiency is an autosomal recessive combined immunodeficiency disease associated with elevated IgE, atopy, recurrent sinopulmonary and cutaneous viral infections, and malignancy. The DOCK8 protein is critical for cytoskeletal organization, and deficiency impairs dendritic cell transmigration, T-cell survival, and NK cell cytotoxicity. Early hematopoietic stem cell transplantation is gaining prominence as a definitive treatment given the potential for severe complications and mortality in this disease...
January 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/27888588/lps-responsive-beige-like-anchor-gene-mutation-associated-with-possible-bronchiolitis-obliterans-organizing-pneumonia-associated-with-hypogammaglobulinemia-and-normal-igm-phenotype-and-low-number-of-b-cells
#13
Sima Shokri, Mohammad Nabavi, Tatjana Hirschmugl, Asghar Aghamohammadi, Saba Arshi, Mohamad Hassan Bemanian, Morteza Fallahpour, Rasool Molatefi, Mahsa Rekabi, Narges Eslami, Javad Ahmadian, Kian Darabi, Gholam Reza Sedighi, Maryam Monajemzadeh, Mohammadreza Modaresi, Nima Parvaneh, Kaan Boztug, Nima Rezaei
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP)...
October 2016: Acta Medica Iranica
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#14
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27881652/inhibition-of-human-cytomegalovirus-pul89-terminase-subunit-blocks-virus-replication-and-genome-cleavage
#15
Yan Wang, Lili Mao, Jayakanth Kankanala, Zhengqiang Wang, Robert J Geraghty
: Human cytomegalovirus terminase complex cleaves the concatemeric genomic DNA into unit lengths during genome packaging and particle assembly. This process is an attractive drug target because cleavage of concatemeric DNA is not required in mammalian cell DNA replication, indicating that drugs targeting the terminase complex could be safe and selective. One component of the human cytomegalovirus terminase complex, pUL89, provides the endonucleolytic activity for genome cleavage and the domain responsible is reported to have an RNase H-like fold...
November 23, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27877102/inhibition-of-gabaergic-neurotransmission-by-hiv-1-tat-and-opioid-treatment-in-the-striatum-involves-%C3%AE-opioid-receptors
#16
Changqing Xu, Sylvia Fitting
Due to combined antiretroviral therapy (cART), human immunodeficiency virus type 1 (HIV-1) is considered a chronic disease with high prevalence of mild forms of neurocognitive impairments, also referred to as HIV-associated neurocognitive disorders (HAND). Although opiate drug use can exacerbate HIV-1 Tat-induced neuronal damage, it remains unknown how and to what extent opioids interact with Tat on the GABAergic system. We conducted whole-cell recordings in mouse striatal slices and examined the effects of HIV-1 Tat in the presence and absence of morphine (1 μM) and damgo (1 μM) on GABAergic neurotransmission...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#17
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27872135/successful-improvement-of-buschke-l%C3%A3-wenstein-tumour-in-an-hiv-infected-patient-with-antiretroviral-therapy-alone
#18
Camille Grodner, Aurélia Henn, Jean-Daniel Lelièvre, Sébastien Gallien
Buschke-Löwenstein tumour (BLT), also defined as giant condyloma acuminatum, is a rare exophytic tumour affecting the anogenital and perianal regions associated with human papillomavirus (HPV) infections, with a potential of malignant transformation and which is at a greater risk in T-cell mediated immunodeficient patients. Different therapeutic options, alone or in combination, have been reported for the treatment of BLT including local therapy but wide surgical local excision is however recommended as the most important therapeutic intervention...
November 21, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27871153/in-vivo-evaluation-of-human-embryonic-stem-cells-isolated-by-57-c11-monoclonal-antibody
#19
Won-Tae Kim, Hyun Min Lee, Min Kyu Kim, Hong Seo Choi, Chun Jeih Ryu
Background: The normal cells derived from human embryonic stem cells (hESCs) are regarded as substitutes for damaged or dysfunctional adult cells. However, tumorigenicity of hESCs remains a major challenge in clinical application of hESC-derived cell transplantation. Previously, we generated monoclonal antibody (MAb) 57-C11 specific to the surface molecule on undifferentiated hESCs. The aim of this study is to prove whether 57-C11-positive hESCs are pluripotent and tumorigenic in immunodeficient mice...
November 30, 2016: International Journal of Stem Cells
https://www.readbyqxmd.com/read/27869733/antiviral-therapy-by-hiv-1-broadly-neutralizing-and-inhibitory-antibodies
#20
REVIEW
Zhiqing Zhang, Shaowei Li, Ying Gu, Ningshao Xia
Human immunodeficiency virus type 1 (HIV-1) infection causes acquired immune deficiency syndrome (AIDS), a global epidemic for more than three decades. HIV-1 replication is primarily controlled through antiretroviral therapy (ART) but this treatment does not cure HIV-1 infection. Furthermore, there is increasing viral resistance to ART, and side effects associated with long-term therapy. Consequently, there is a need of alternative candidates for HIV-1 prevention and therapy. Recent advances have discovered multiple broadly neutralizing antibodies against HIV-1...
November 18, 2016: International Journal of Molecular Sciences
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