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https://www.readbyqxmd.com/read/28634034/absence-of-%C3%AE-chain-in-keratinocytes-alters-chemokine-secretion-resulting-in-reduced-immune-cell-recruitment
#1
Karolin Nowak, Daniela Linzner, Adrian J Thrasher, Paul F Lambert, Wei Li Di, Siobhan O Burns
Loss of function mutations in the common gamma (γc) chain cytokine receptor subunit give rise to severe combined immunodeficiency (SCID) characterised by lack of T and natural killer cells and infant death from infection. Haematopoietic stem cell transplantation or gene therapy offer cure but despite successful replacement of lymphoid immune lineages a long-term risk of severe cutaneous human papilloma virus (HPV) infections persists, possibly related to persistent γc-deficiency in other cell types. Here we demonstrate that keratinocytes, the only cell type directly infected by HPV, express functional γc and its co-receptors...
June 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28630593/hemofagocitin%C3%A4-limfohistiocitoz%C3%A4-literat%C3%A5-ros-ap%C3%A5-valga
#2
Simona Bereikienė, Jelena Rascon
Hemophagocytic lymphohistiocytosis is an immune dysregulatory syndrome that is associated with alteration in the immune response activation and inhibition balance. There are two basic forms of the syndrome: primary (genetic or familial) determined by genes mutations involved in immune cell interactions, and secondary or sporadic developing as a result of an infectious process. The exact genetic background of the secondary form is still unknown. These forms are characterized by same combination of specific hyperinflammatory reactions and clinical signs and symptoms...
2017: Acta medica Lituanica
https://www.readbyqxmd.com/read/28627729/the-immune-deficiency-of-chromosome-22q11-2-deletion-syndrome
#3
Megan Morsheimer, Terri F Brown Whitehorn, Jennifer Heimall, Kathleen E Sullivan
The syndrome originally described by Dr. Angelo DiGeorge had immunodeficiency as a central component. When a 22q11.2 deletion was identified as the cause in the majority of patients with DiGeorge syndrome, the clinical features of 22q11.2 deletion syndrome became so expansive that the immunodeficiency became less prominent in our thinking about the syndrome. This review will focus on the immune system and the changes in our understanding over the past 50 years. Initially characterized as a pure defect in T cell development, we now appreciate that many of the clinical features related to the immunodeficiency are well downstream of the limitation imposed by a small thymus...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28622951/population-approach-to-efavirenz-therapy
#4
Hélder Duarte, João Paulo Cruz, Natália Aniceto, Ana Clara Ribeiro, Ana Fernandes, Paulo Paixão, Francisco Antunes, José Morais
Efavirenz (EFV) is a non-nucleoside reverse transcriptase inhibitor commonly used as first line therapy in the treatment of human immunodeficiency virus, with a narrow therapeutic range and a high between-subject variability which can lead to central nervous system toxicity or therapeutic failure. To characterize the sources of variability and better predict EFV steady state plasma concentrations, a population pharmacokinetic model was developed form 96 HIV positive individuals, using a nonlinear mixed effect method with Monolix® software...
June 13, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28622397/looking-for-the-most-suitable-orthotopic-retinoblastoma-mouse-model-in-order-to-characterize-the-tumoral-development
#5
Stéphanie Lemaitre, Florent Poyer, Sergio Marco, Paul Fréneaux, François Doz, Isabelle Aerts, Laurence Desjardins, Nathalie Cassoux, Carole D Thomas
Purpose: Because retinoblastoma therapies have many adverse effects, new approaches must be developed and evaluated on animal models. We describe orthotopic xenograft models of retinoblastoma using different strains of mice, suitable for this purpose. Methods: Human retinoblastoma tumors were established on immunodeficient mice by subcutaneous engraftment of tumors from enucleated eyes. The orthotopic model was obtained by subretinal injections of suspension cells into the right eye of immunodeficient (Swiss-nude, severe combined immunodeficiency [SCID]) and immunocompetent mice (C57BL/6N, B6Albino)...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28622118/imaging-spectrum-of-invasive-fungal-and-fungal-like-infections
#6
Hilary L P Orlowski, Sebastian McWilliams, Vincent M Mellnick, Sanjeev Bhalla, Meghan G Lubner, Perry J Pickhardt, Christine O Menias
Invasive fungal and fungal-like infections contribute to substantial morbidity and mortality in immunocompromised individuals. The incidence of these infections is increasing-largely because of rising numbers of immunocompromised patients, including those with neutropenia, human immunodeficiency virus, chronic immunosuppression, indwelling prostheses, burns, and diabetes mellitus, and those taking broad-spectrum antibiotics. Invasive fungal pathogens include primary mycotic organisms such as Histoplasma capsulatum, Coccidioides immitis, Blastomyces dermatitidis, and Paracoccidioides brasiliensis, which are true pathogens and inherently virulent...
June 16, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28617419/utilization-of-genomic-sequencing-for-population-screening-of-immunodeficiencies-in-the-newborn
#7
Ashleigh R Pavey, Dale L Bodian, Thierry Vilboux, Alina Khromykh, Natalie S Hauser, Kathi Huddleston, Elisabeth Klein, Aaron Black, Megan S Kane, Ramaswamy K Iyer, John E Niederhuber, Benjamin D Solomon
PurposeImmunodeficiency screening has been added to many state-directed newborn screening programs. The current methodology is limited to screening for severe T-cell lymphopenia disorders. We evaluated the potential of genomic sequencing to augment current newborn screening for immunodeficiency, including identification of non-T cell disorders.MethodsWe analyzed whole-genome sequencing (WGS) and clinical data from a cohort of 1,349 newborn-parent trios by genotype-first and phenotype-first approaches. For the genotype-first approach, we analyzed predicted protein-impacting variants in 329 immunodeficiency-related genes in the WGS data...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28610939/outcome-of-challenging-hiv-case-consultations-provided-via-teleconference-by-the-clinician-consultation-center-to-the-federal-bureau-of-prisons
#8
Betty J Dong, Michelle R Williams, J Tyler Bingham, Jason Tokumoto, Jeffery D Allen
OBJECTIVES: To describe the collaboration and prospective outcome of challenging human immunodeficiency virus (HIV) cases presented by Board of Prisons (BOP) pharmacists in consultation with Clinician Consultation Center (CCC) clinical pharmacists and physicians to improve correctional patient care. SETTING: Federal correctional facilities. PRACTICE DESCRIPTION: Pharmacists improve care of incarcerated persons infected with HIV. PRACTICE INNOVATION: Pharmacists evaluate, implement, and provide successful oversight of HIV/hepatitis C virus (HCV) care...
June 10, 2017: Journal of the American Pharmacists Association: JAPhA
https://www.readbyqxmd.com/read/28607543/modulation-of-tryptophan-serotonin-pathway-by-probiotic-supplementation-in-human-immunodeficiency-virus-positive-patients-preliminary-results-of-a-new-study-approach
#9
Giuseppe Corano Scheri, Saeid Najafi Fard, Ivan Schietroma, Andrea Mastrangelo, Claudia Pinacchio, Noemi Giustini, Sara Serafino, Gabriella De Girolamo, Eugenio Nelson Cavallari, Maura Statzu, Luca Laghi, Annamaria Vullo, Giancarlo Ceccarelli, Vincenzo Vullo, Gabriella d'Ettorre
BACKGROUND: To date, no data are available regarding the effects of probiotics on the pathway of tryptophan/serotonin metabolism among human immunodeficiency virus (HIV) 1-infected individuals. Because a condition of dysbiosis might be responsible for the altered use of tryptophan described in this population, the aim of this study was to investigate the link between probiotic supplementation and serotonin levels in combined antiretroviral therapy-treated patients and the subsistence of an interplay with inflammation...
2017: International Journal of Tryptophan Research: IJTR
https://www.readbyqxmd.com/read/28600865/immune-deficiency-and-autoimmunity-in-patients-with-ctla-4-mutations
#10
REVIEW
Nisha Verma, Siobhan O Burns, Lucy Sk Walker, David M Sansom
Immune deficiency disorders are a heterogeneous group of diseases of variable genetic aetiology. Whilst the hallmark of immunodeficiency is susceptibility to infection, it is increasingly clear that autoimmunity is prevalent suggestive of a more general immune dysregulation in some cases. With the increasing use of genetic technologies the underlying causes of immune dysregulation are beginning to emerge. Here we provide a review of the heterozygous mutations found in the immune checkpoint protein CTLA-4, which was originally identified in cases of Common Variable Immunodeficiency Disorders (CVID) with accompanying autoimmunity...
June 10, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28600490/treating-tobacco-dependence-guidance-for-primary-care-on-life-saving-interventions-position-statement-of-the-ipcrg
#11
O C P Van Schayck, S Williams, V Barchilon, N Baxter, M Jawad, P A Katsaounou, B J Kirenga, C Panaitescu, K W I G Tsiligianni, N Zwar, A Ostrem
Tobacco smoking is the world's leading cause of premature death and disability. Global targets to reduce premature deaths by 25% by 2025 will require a substantial increase in the number of smokers making a quit attempt, and a significant improvement in the success rates of those attempts in low, middle and high income countries. In many countries the only place where the majority of smokers can access support to quit is primary care. There is strong evidence of cost-effective interventions in primary care yet many opportunities to put these into practice are missed...
June 9, 2017: NPJ Primary Care Respiratory Medicine
https://www.readbyqxmd.com/read/28592301/pneumococcal-meningitis-with-normal-cerebrospinal-biochemistry-and-no-pneumococci-at-microscopy-mimicking-a-stroke-a-case-report
#12
Gideon Ertner, Jeppe Romme Christensen, Christian T Brandt
BACKGROUND: Bacterial meningitis commonly presents with symptoms such as headache, impaired consciousness, neck stiffness, and fever. In most cases, cerebrospinal fluid analysis will yield white cell counts >100/mm(3). Atypical presentations occur, especially in the very young or very elderly and the immunocompromised. We report an unusual case of pneumococcal meningitis in a healthy 78-year-old Danish woman who presented with clinical features mimicking a stroke with normal cerebrospinal fluid parameters and without microscopic evidence of bacteria...
June 7, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28588580/specific-antibody-deficiency-controversies-in-diagnosis-and-management
#13
REVIEW
Elena Perez, Francisco A Bonilla, Jordan S Orange, Mark Ballow
Specific antibody deficiency (SAD) is a primary immunodeficiency disease characterized by normal immunoglobulins (Igs), IgA, IgM, total IgG, and IgG subclass levels, but with recurrent infection and diminished antibody responses to polysaccharide antigens following vaccination. There is a lack of consensus regarding the diagnosis and treatment of SAD, and its clinical significance is not well understood. Here, we discuss current evidence and challenges regarding the diagnosis and treatment of SAD. SAD is normally diagnosed by determining protective titers in response to the 23-valent pneumococcal polysaccharide vaccine...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28583689/granulomatous-lymphocytic-interstitial-lung-disease-in-a-patient-with-common-variable-immunodeficiency
#14
Jehan L Shah, Sagar B Amin, Nupur Verma, Tan-Lucien Mohammed
Common variable immunodeficiency is the most common primary immunodeficiency and consists of impaired immunoglobulin production causing recurrent sinopulmonary infections. The most common cause of mortality for this disorder, however, is from the development of malignancy and autoimmune disorders. One common entity that develops is a systemic granulomatous and lymphoproliferative disorder that can cause an interstitial lung disease more formally referred to as granulomatous-lymphocytic interstitial lung disease (GL-ILD)...
April 14, 2017: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28583173/hiv-and-syphilis-in-the-context-of-community-vulnerability-among-indigenous-people-in-the-brazilian-amazon
#15
Adele Schwartz Benzaken, Meritxell Sabidó, Ivo Brito, Ximena Pamela Díaz Bermúdez, Nina Schwartz Benzaken, Enrique Galbán, Rosanna W Peeling, David Mabey
BACKGROUND: Contextual factors shape the risk of acquiring human immunodeficiency virus (HIV) and syphilis. We estimated the prevalence of both infections among indigenous people in nine indigenous health districts of the Brazilian Amazon and examined the context of community vulnerability to acquiring these infections. METHODS: We trained 509 health care workers to screen sexually active populations in the community for syphilis and HIV using rapid testing (RT)...
June 5, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28581372/hospital-admissions-for-hiv-infected-prisoners-in-italy
#16
Emanuele Pontali, Roberto Ranieri, Elena Rastrelli, Maria Donata Iannece, Anna Maria Ialungo, Serena Dell'Isola, Alfonso Liberti, Pietro Rosario, Rodolfo Casati, Giulio Starnini, Sergio Babudieri
Purpose The purpose of this paper is to give a description of the clinical conditions and patient demographics of inpatient admissions of human immunodeficiency virus (HIV)-infected inmates in three hospital wards that provide hospital care for inmates in Italy. Design/methodology/approach This is a retrospective review of hospital medical admissions of patients living with HIV from January 1 to December 31, 2014, in three Italian referral centers for hospitalization of inmates. Findings A total of 85 admissions for 85 different HIV-infected inmates occurred in 2014 in the three centers participating to the study...
June 12, 2017: International Journal of Prisoner Health
https://www.readbyqxmd.com/read/28578686/challenges-and-opportunities-of-optimal-breastfeeding-in-the-context-of-hiv-option-b-guidelines
#17
Pamela Marinda, Nkandu Chibwe, Ernest Tambo, Sidney Lulanga, Christopher Khayeka-Wandabwa
BACKGROUND: In 2013, the World Health Organization released a new set of guidelines widely known as Option B+. Prior to that there were guidelines released in 2010. Option B+ recommends lifelong antiretroviral treatment for all pregnant and breastfeeding women living with Human Immunodeficiency Virus. The study aimed at investigating challenges and opportunities in implementing Infant and Young Child Feeding in the context of Prevention of Mother To Child Transmission (PMTCT) guidelines among HIV positive mothers of children aged 0-24 months...
June 2, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28578473/geoepidemiology-and-immunologic-features-of-autoinflammatory-diseases-a-comprehensive-review
#18
REVIEW
Yvan Jamilloux, Alexandre Belot, Flora Magnotti, Sarah Benezech, Mathieu Gerfaud-Valentin, Emilie Bourdonnay, Thierry Walzer, Pascal Sève, Thomas Henry
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed...
June 3, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28574813/an-immunocompetent-mouse-model-of-human-glioblastoma
#19
Samantha Semenkow, Shen Li, Ulf D Kahlert, Eric H Raabe, Jiadi Xu, Antje Arnold, Miroslaw Janowski, Byoung Chol Oh, Gerald Brandacher, Jeff W M Bulte, Charles G Eberhart, Piotr Walczak
Orthotopic xenotransplantation studies represent the final stage in preclinical cancer research and could facilitate the implementation of precision medicine. To date, these xenografts have been tested in immunodeficient animals, but complete elimination of the adaptive immunity is a significant drawback. We present a method of efficient human glioblastoma (GBM) cell engraftment in adult mice with intact immune systems, mediated by a transient blockade of T-cell co-stimulation. Compared to transplants grown in immunodeficient hosts, the resulting tumors more accurately resemble the clinical pathophysiology of patient GBMs, which are characterized by blood-brain-barrier leakage and strong neo-vascularization...
May 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28570672/mirasol-pathogen-reduction-technology-treatment-of-human-whole-blood-does-not-induce-acute-lung-injury-in-mice
#20
Beñat Mallavia, Nicholas Kwaan, Susanne Marschner, Susan Yonemura, Mark R Looney
In resource-limited settings and in the military theater, fresh human whole blood is commonly transfused, but infectious risks are a concern. Sophisticated molecular testing for potential infectious agents in the whole blood is often unavailable. To address this unmet need, pathogen reduction technology (PRT) has been developed, and it is an effective approach to inactivate a broad range of pathogens found in human blood. However, studies are needed to determine if it is harmful to blood cells and whether these cells could damage the transfused recipient, including the development of acute lung injury/acute respiratory distress syndrome...
2017: PloS One
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