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Primary Immunodeficiency

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https://www.readbyqxmd.com/read/28723333/enhanced-prophylaxis-plus-antiretroviral-therapy-for-advanced-hiv-infection-in-africa
#1
James Hakim, Victor Musiime, Alex J Szubert, Jane Mallewa, Abraham Siika, Clara Agutu, Simon Walker, Sarah L Pett, Mutsa Bwakura-Dangarembizi, Abbas Lugemwa, Symon Kaunda, Mercy Karoney, Godfrey Musoro, Sheila Kabahenda, Kusum Nathoo, Kathryn Maitland, Anna Griffiths, Margaret J Thomason, Cissy Kityo, Peter Mugyenyi, Andrew J Prendergast, A Sarah Walker, Diana M Gibb
Background In sub-Saharan Africa, among patients with advanced human immunodeficiency virus (HIV) infection, the rate of death from infection (including tuberculosis and cryptococcus) shortly after the initiation of antiretroviral therapy (ART) is approximately 10%. Methods In this factorial open-label trial conducted in Uganda, Zimbabwe, Malawi, and Kenya, we enrolled HIV-infected adults and children 5 years of age or older who had not received previous ART and were starting ART with a CD4+ count of fewer than 100 cells per cubic millimeter...
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28721392/the-response-to-typhi-vi-vaccination-is-compromised-in-individuals-with-primary-immunodeficiency
#2
Jeevani Kumarage, Suranjith L Seneviratne, Vijitha Senaratne, Amitha Fernando, Kirthi Gunasekera, Bandu Gunasena, Padmalal Gurugama, Sudath Peiris, Antony R Parker, Stephen Harding, Nilhan Rajiva de Silva
Measurement of an individuals ability to respond to polysaccharide antigens is a crucial test to determine adaptive immunity. Currently the response to Pneumovax(®) is utilized but with the success of Prevnar(®), measurement of the response to Pneumovax may be challenging. The aim of the study was to assess the response to Typhi Vi vaccination in both children and adult control groups and patients with primary immunodeficiency (PID). In the control groups, >95% of the individuals had pre Typhi Vi vaccination concentrations <100 U/mL and there was significant increase in concentration post Typhi Vi vaccination (p<0...
June 2017: Heliyon
https://www.readbyqxmd.com/read/28721354/diagnostic-outcomes-after-chest-radiograph-interpretation-in-patients-with-suspected-tuberculosis-and-negative-sputum-smears-in-a-high-burden-human-immunodeficiency-virus-and-tuberculosis-setting
#3
Patrick G T Cudahy, Rodney Dawson, Brian W Allwood, Gary Maartens, Douglas Wilson
BACKGROUND: Evaluation of patients with suspected tuberculosis and negative sputum smears for acid-fast bacilli (AFB) is challenging, especially in high human immunodeficiency virus coinfection settings where sputum smears have lower sensitivity for detecting AFB. METHODS: We examined the utility of chest radiographs for detecting smear-negative pulmonary tuberculosis. Three hundred sixty sputum smear-negative patients who were referred from primary care clinics in the KwaZulu-Natal province of South Africa were evaluated...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28721327/two-catastrophes-in-one-patient-drug-reaction-with-eosinophilia-and-systemic-symptoms-and-toxic-shock-syndrome
#4
Moayed Ibrahim, Diana L Nunley
A 70-year-old, immunocompromised patient presented to the emergency room (ER) five weeks after she was started on clopidogrel. She complained of skin eruption, mouth ulcers, fatigue, and myalgia over the past two weeks. Labs showed severe hyponatremia, acute kidney injury, rhabdomyolysis, hyperkalemia, and elevated liver enzymes. She was treated with steroids and discharged after her condition improved. However, a month later, she returned to the ER, complaining of nausea, vomiting, diarrhea, dizziness, chills, and shortness of breath over the past two days...
June 15, 2017: Curēus
https://www.readbyqxmd.com/read/28720148/multifocal-gastric-adenocarcinoma-in-a-patient-with-lrba-deficiency
#5
Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino, Magdalena Avbelj Stefanija
BACKGROUND: Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a case history of a young adult with LRBA deficiency and two independent malignancies. METHODS: Family-trio whole exome sequencing with unbiased phenotype ontology approach was used for identification of causative mutations of a primary immune deficiency disorder...
July 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28718914/reduced-numbers-of-circulating-group-2-innate-lymphoid-cells-in-patients-with-common-variable-immunodeficiency
#6
Christoph B Geier, Sophie Kraupp, David Bra, Martha M Eibl, Jocelyn R Farmer, Krisztian Csomos, Jolan E Walter, Hermann M Wolf
Recent studies identified an emerging role of group 2 and 3 innate lymphoid cells (ILCs) as key players in the generation of T-dependent and T-independent antibody production. In this retrospective case-control study CD117(+) ILCs (including the majority of ILC2 and ILC3) were reduced in patients with common variable immunodeficiency (CVID). The reduction in CD117(+) ILCs was distinctive to CVID and could not be observed in patients with X linked agammaglobulinemia (XLA). Patients with a more pronounced reduction in CD117(+) ILC numbers showed significantly lower numbers of peripheral MZ-like B cells and an increased prevalence of chronic, non-infectious enteropathy...
July 18, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28718689/orbital-diffuse-large-b-cell-lymphoma-with-combined-variable-immunodeficiency
#7
Vishal S Parikh, Deepa Jagadeesh, James M Fernandez, Eric D Hsi, Arun D Singh
Common variable immunodeficiency (CVID) is a primary immunodeficiency manifesting as a reduction in the level of total immunoglobulin (Ig) G, a reduction in the level of either IgA or IgM, poor response to polysaccharide vaccine, and usually frequent infections. The association of CVID with an increased risk of malignancy, specifically lymphoma, is well known. A 63-year-old female with a past medical history significant for CVID presented with a 1-month history of dull, left eye pain with proptosis, hypoglobus, and left upper lid fullness without a discrete palpable mass...
July 18, 2017: Orbit
https://www.readbyqxmd.com/read/28716935/severe-viral-respiratory-infections-in-children-with-ifih1-loss-of-function-mutations
#8
Samira Asgari, Luregn J Schlapbach, Stéphanie Anchisi, Christian Hammer, Istvan Bartha, Thomas Junier, Geneviève Mottet-Osman, Klara M Posfay-Barbe, David Longchamp, Martin Stocker, Samuel Cordey, Laurent Kaiser, Thomas Riedel, Tony Kenna, Deborah Long, Andreas Schibler, Amalio Telenti, Caroline Tapparel, Paul J McLaren, Dominique Garcin, Jacques Fellay
Viral respiratory infections are usually mild and self-limiting; still they exceptionally result in life-threatening infections in previously healthy children. To investigate a potential genetic cause, we recruited 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Using exome and transcriptome sequencing, we identified and characterized three rare loss-of-function variants in IFIH1, which encodes an RIG-I-like receptor involved in the sensing of viral RNA...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28716771/an-intervention-using-gamification-to-increase-human-immunodeficiency-virus-and-sexually-transmitted-infection-screening-among-young-men-who-have-sex-with-men-in-california-rationale-and-design-of-stick-to-it
#9
Christopher M Mejia, Daniel Acland, Raluca Buzdugan, Reva Grimball, Lauren Natoli, Mark R McGrath, Jeffrey D Klausner, Sandra I McCoy
BACKGROUND: In the United States, young men who have sex with men (YMSM) remain disproportionately affected by human immunodeficiency virus (HIV) and other sexually transmitted infections (STIs). Although routine HIV/STI screening is pivotal to the timely diagnosis of HIV and STIs, initiation of appropriate treatment, and reduced onward disease transmission, repeat screening is underused. Novel interventions that incorporate elements of games, an approach known as gamification, have the potential to increase routinization of HIV/STI screening among YMSM...
July 17, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28714047/erratum-to-evaluation-of-the-safety-tolerability-and-pharmacokinetics-of-gammaplex%C3%A2-10-versus-gammaplex%C3%A2-5-in-subjects-with-primary-immunodeficiency
#10
Richard L Wasserman, Isaac R Melamed, Mark R Stein, Stephen Jolles, Miranda Norton, James N Moy
No abstract text is available yet for this article.
July 17, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28713164/human-immunodeficiency-virus-type-1-induces-a-regulatory-b-cell-like-phenotype-in-vitro
#11
Jacobo Lopez-Abente, Adrián Prieto-Sanchez, Maria-Ángeles Muñoz-Fernandez, Rafael Correa-Rocha, Marjorie Pion
Individuals infected with human immunodeficiency virus type-1 (HIV-1) usually show a general dysregulation and hyper-activation of the immune system. A direct influence of HIV-1 particles on B-cell phenotypes and functions has been previously described. However, the consequences of B-cell dysregulation are still poorly understood. We evaluated the phenotypic changes in primary B cells after direct contact with HIV-1 particles in comparison with different types of stimuli. The functionality of treated B cells was challenged in co-culture experiments with autologous CD4+ and CD8+ T cells...
July 17, 2017: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/28712768/neutralizing-antibodies-against-a-specific-human-immunodeficiency-virus-gp41-epitope-are-associated-with-long-term-non-progressor-status
#12
Olivier Lucar, Bin Su, Valérie Potard, Assia Samri, Brigitte Autran, Christiane Moog, Patrice Debré, Vincent Vieillard
Antibodies (Abs) play a central role in human immunodeficiency virus (HIV) protection due to their multiple functional inhibitory activities. W614A-3S Abs recognize a specific form of a highly conserved motif of the gp41 envelope protein and can elicit viral neutralization to protect CD4(+) T cells. Here, we describe in detail the neutralizing profile of W614A-3S Abs in untreated long-term non-progressor (LTNP) HIV-infected patients. W614A-3S Abs were detected in 23.5% (16/68) of untreated LTNP patients compared with <5% (5/104) of HIV-1 progressor patients...
July 11, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28712302/overcoming-the-hydrolytic-lability-of-a-reaction-intermediate-in-production-of-protein-drug-conjugates-conjugation-of-an-acyclic-nucleoside-phosphonate-to-a-model-carrier-protein
#13
Shengsheng Xu, Igor A Kaltashov
Acquired immunodeficiency syndrome (AIDS) remains one of the most serious public health challenges and a significant cause of mortality for certain populations. Despite the large number of antiretrovirals developed in the past two decades, the inability of small molecule therapeutics to target HIV reservoirs directly creates a significant obstacle to their effective utilization. Indeed, achieving the desired therapeutic outcome in the absence of an effective means of targeted delivery must rely on dosage escalation, which frequently causes severe toxicity...
July 17, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28712180/causes-of-chronic-non-infectious-diarrhoea-in-infants-less-than-6-months-of-age-rarely-recognized-entities
#14
Iqra Mushtaq, Huma Ashraf Cheema, Hassan Suleman Malik, Nadia Waheed, Muhammad Almas Hashmi, Hassan Suleman Malik
BACKGROUND: Non-infectious causes of chronic diarrhoea are important and easily missed. The study was done with the objectives to identify different causes of chronic non-infectious diarrhoea in infants less than 6 months of age. METHODS: All patients less than 6 months of age presenting for the first time to a Paediatric Gastroenterology tertiary care centre with a history of chronic diarrhoea and negative stool cultures were enrolled over a period of 8 months...
January 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28711959/a-multicentre-study-on-the-efficacy-safety-and-pharmacokinetics-of-iqymune%C3%A2-a-highly-purified-10-liquid-intravenous-immunoglobulin-in-patients-with-primary-immune-deficiency
#15
Gergely Krivan, Ludmila Chernyshova, Larysa Kostyuchenko, Andrzej Lange, Zoltan Nyul, Beata Derfalvi, Jacek Musial, Anne Bellon, Martin Kappler, Alain Sadoun, Ewa Bernatowska
This multicentre, open-label, prospective, single-arm study was designed to evaluate the efficacy, pharmacokinetics, and safety of IqYmune®, a highly purified 10% polyvalent immunoglobulin preparation for intravenous administration in patients with primary immunodeficiency. IqYmune® was administered to 62 patients (aged 2-61 years) with X-linked agammaglobulinemia or common variable immune deficiency at a dose from 0.22 to 0.97 g/kg every 3 to 4 weeks for 12 months with an infusion rate up to 8 mL/kg/h...
July 15, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28709077/phytonanotherapy-for-management-of-diabetes-using-green-synthesis-nanoparticles
#16
K Anand, C Tiloke, Pragalathan Naidoo, A A Chuturgoon
The world has a rich diversity of indigenous medicinal plants. The World Health Organization (WHO) gives high priority to eco-friendly, non-hazardous and cost effective healthcare such as the use of medicinal plants to treat various illnesses, including Human immunodeficiency virus (HIV) infection and Acquired immune deficiency syndrome (AIDS), tuberculosis (TB), diabetes mellitus (DM), malaria, and cancer. In developing countries, a high proportion of the population tends to use complementary and alternative medicines (CAM) together with conventional prescription drugs...
June 27, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28708268/screening-protocols-to-monitor-respiratory-status-in-primary-immunodeficiency-disease-findings-from-a-european-survey-and-subclinical-infection-working-group
#17
Stephen Jolles, Silvia Sánchez-Ramón, Isabella Quinti, Pere Soler-Palacín, Carlo Agostini, Benoit Florkin, Louis-Jean Couderc, Nicholas Brodszki, Alison Jones, Hilary Longhurst, Klaus Warnatz, Filomeen Haerynck, Andrea Matucci, Esther de Vries
Many patients with primary immunodeficiency (PID) who have antibody deficiency develop progressive lung disease due to underlying subclinical infection and inflammation. To understand how these patients are monitored we conducted a retrospective survey based on patient records of 13 PID centres across Europe, regarding the care of 1,061 adult and 178 paediatric patients with PID on IgG replacement. The most common diagnosis was common variable immunodeficiency in adults (75%), and hypogammaglobulinaemia in children (39%)...
July 14, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28706763/comparison-of-knowledge-attitudes-and-practices-of-educated-and-uneducated-adults-regarding-human-immunodeficiency-virus-in-karachi-pakistan
#18
Zainab Ahmad, Sara Sadiq, Mariam Asghar, Alizay Rashid Khan, Omer Arif, Syed Hamza Shah, Shahrukh Nadeem, Yamna Waseem, Rafi Aibani, Ammar Salman Syed, Rabia M Mustafa, Zainab Abdulrahman, Kaneez Fatima
BACKGROUND: Despite the high prevalence of human immunodeficiency virus (HIV) in Pakistan, no prior work has been done to specifically highlight the importance of education as a social vaccine against HIV. Therefore, our study focuses on differences in knowledge and practices regarding HIV and acquired immunodeficiency syndrome (AIDS) among educated and uneducated adults. METHODOLOGY: A cross-sectional study was carried out in which data was collected from all over Karachi...
June 12, 2017: Curēus
https://www.readbyqxmd.com/read/28702826/head-and-neck-diffuse-large-b-cell-lymphomas-hn-dlbcl-in-human-immunodeficiency-virus-hiv-positive-patients-long-term-results-in-the-highly-active-antiretroviral-therapy-haart-era
#19
Francesca De Felice, Andrea Di Mino, Lavinia Grapulin, Maria Lusia Mistrulli, Daniela Musio, Vincenzo Tombolini
To report long-term outcomes and toxicity rates after chemotherapy (CHT) followed by radiotherapy (RT) in the highly active antiretroviral therapy (HAART) era in human immunodeficiency virus (HIV) positive patients with head and neck diffuse large B cell lymphomas (HN-DLBCL). Clinical data concerning consecutive HIV patients treated for DLBCL located in head and neck region with CHT and RT were retrospectively reviewed. Systemic treatment consisted of combination CHT agents given with concomitant HAART and regimen was left to oncologists' discretion...
July 12, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28702026/lessons-from-genetic-studies-of-primary-immunodeficiencies-in-a-highly-consanguineous-population
#20
REVIEW
Mohamed-Ridha Barbouche, Najla Mekki, Meriem Ben-Ali, Imen Ben-Mustapha
During the last decades, the study of primary immunodeficiencies (PIDs) has contributed tremendously to unravel novel pathways involved in a variety of immune responses. Many of these PIDs have an autosomal recessive (AR) mode of inheritance. Thus, the investigation of the molecular basis of PIDs is particularly relevant in consanguineous populations from Middle East and North Africa (MENA). Although significant efforts have been made in recent years to develop genetic testing across the MENA region, few comprehensive studies reporting molecular basis of PIDs in these settings are available...
2017: Frontiers in Immunology
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