Read by QxMD icon Read

primary immunodeficiencies

Arun Agarwal, Samiksha Sharma, Mala Airun
Selective immunoglobulin M deficiency(sIgMD) is a rare form of dysgammaglobulinaemia characterized by an isolated low level of serum immunoglobulin M (IgM). It was an incidence of less than 0.03% in the general population and 1% in hospitalized patients. sIgMD may occur as a primary or secondary condition. sIgMD is much more common than primary .Hemophagocytic lymphohistiocytosis (HLH) is also a rare but potentially fatal disease of normal but overactive histiocytes and lymphocytes and can be primary or secondary, characterized by the overwhelming activation of normal T lymphocytes and macrophages, invariably leading to clinical and hematologic alterations...
July 2016: Journal of the Association of Physicians of India
Jeremy Woodward, Effrossyni Gkrania-Klotsas, Dinakantha Kumararatne
Chronic infection with Norovirus is emerging as a significant risk for patients with immunodeficiency - either primary or secondary to therapeutic immunosuppression. Patients with primary immunodeficiency present a range of pathological responses to Norovirus infection. Asymptomatic infections occur and differentiating viral carriage or prolonged viral shedding after self-limiting infection from infection causing protracted diarrhoea can be challenging due to relatively mild pathological changes that may mimic other causes of diarrhoea in such patients (for instance pathogenic bacteria or parasites or graft-versus-host disease)...
October 18, 2016: Clinical and Experimental Immunology
Ann J Melvin, Grace Montepiedra, Lisa Aaron, William A Meyer, Hans M Spiegel, William Borkowsky, Mark J Abzug, Brookie M Best, Marilyn J Crain, Peggy R Borum, Bobbie Graham, Patricia Anthony, Katherine Shin, George K Siberry
BACKGROUND: HIV-infected children receiving antiretroviral therapy (ART) have increased prevalence of hyperlipidemia and risk factors for cardiovascular disease. No studies have investigated the efficacy and safety of statins in this population. METHODS: HIV-infected youth aged 10 - < 24 years on stable ART with low-density lipoprotein-cholesterol (LDL-C) ≥130 mg/dL for ≥ 6 months initiated atorvastatin 10mg once daily. Atorvastatin was increased to 20mg if LDL-C efficacy criteria (LDL-C < 110 mg/dL or decreased ≥30% from baseline) were not met at week 4...
October 3, 2016: Pediatric Infectious Disease Journal
Bingjie Shi, Juan Li, Xuanling Shi, Wenxu Jia, Yi Wen, Xiongbing Hu, Fengfeng Zhuang, Jianzhong Xi, Linqi Zhang
Transcription activator-like effector nuclease (TALEN) represents a valuable tool for genomic engineering due to its single-nucleotide precision, high nuclease activity and low cytotoxicity. We report here systematic design and characterization of twenty eight novel TALENs targeting multiple regions of CCR5 gene (CCR5-TALEN) which encodes the co-receptor critical for entry of human immunodeficiency virus type I (HIV-1). By systemic characterization of these CCR5-TALENs, we have identified one (CCR5-TALEN-515) with higher nuclease activity, specificity and lower cytotoxicity compared to zinc-finger nuclease (CCR5-ZFN) currently undergoing clinical trials...
October 3, 2016: Journal of Acquired Immune Deficiency Syndromes: JAIDS
Swathi Kaliki, Suzanne K Freitag, James Chodosh
PURPOSE: To describe clinical presentation and histopathological features of a nodulo-ulcerative variant of ocular surface squamous neoplasia (OSSN). METHODS: Retrospective study. RESULTS: Six patients were identified with a nodulo-ulcerative variant of OSSN. Mean age at presentation was 56 years. One patient was immunosuppressed because of human immunodeficiency virus infection. The initial misdiagnosis was necrotizing scleritis/sclerokeratitis (n = 4), intraepithelial neoplasia (n = 1), and chalazion (n = 1)...
October 5, 2016: Cornea
Siobhan O Burns, Alex Zarafov, Adrian J Thrasher
PURPOSE OF REVIEW: Primary immunodeficiencies (PIDs) are inherited conditions where components of the immune system are missing or dysfunctional. Over 300 genes have been causally linked to monogenic forms of PID, including a number that regulate the actin cytoskeleton. The majority of cytoskeletal defects disrupt assembly and disassembly of filamentous actin in multiple immune cell lineages impacting functions such as cell migration and adhesion, pathogen uptake, intercellular communication, intracellular signalling, and cell division...
October 5, 2016: Current Opinion in Hematology
Emily M Mace
PURPOSE OF REVIEW: Human natural killer (NK) cell development is poorly understood; however, we gain important insight from cases of human primary immunodeficiency that affect the generation of mature human NK cell subsets. In this review, monogenic primary immunodeficiencies that highlight critical requirements for human NK cell development are discussed. RECENT FINDINGS: Increased resolution in NK cell phenotyping has revealed NK cell deficiencies that affect the distribution of NK cell subsets found in peripheral blood...
October 5, 2016: Current Opinion in Allergy and Clinical Immunology
Elena W Y Hsieh, Joseph D Hernandez
PURPOSE OF REVIEW: This review gives an overview of the systems-immunology single-cell proteomic and transcriptomic approaches that can be applied to study primary immunodeficiency. It also introduces recent advances in multiparameter tissue imaging, which allows extensive immune phenotyping in disease-affected tissue. RECENT FINDINGS: Mass cytometry is a variation of flow cytometry that uses rare earth metal isotopes instead of fluorophores as tags bound to antibodies, allowing simultaneous measurement of over 40 parameters per single-cell...
October 5, 2016: Current Opinion in Allergy and Clinical Immunology
Hinojal Zazo, Clara I Colino, Klaudia T Warzecha, Mareike Hoss, Uwe Gbureck, Christian Trautwein, Frank Tacke, José M Lanao, Matthias Bartneck
The human immunodeficiency virus (HIV) continues to be a global pandemic and there is an urgent need for innovative treatment. Immune cells represent a major target of virus infection, but are also therapeutic targets. Currently, no antiretroviral therapy targets macrophages, which function as portal of entry and as major long-term deposit of HIV. It has been shown before that human macrophages efficiently internalize gold nanoparticles, a fact which might be used to target them with drug-nanoparticle conjugates...
October 17, 2016: Macromolecular Bioscience
Austen J J Worth, Charlotte J Houldcroft, Claire Booth
Epstein-Barr virus (EBV) infection is ubiquitous in humans, but the majority of infections have an asymptomatic or self-limiting clinical course. Rarely, individuals may develop a pathological EBV infection with a variety of life threatening complications (including haemophagocytosis and malignancy) and others develop asymptomatic chronic EBV viraemia. Although an impaired ability to control EBV infection has long been recognised as a hallmark of severe T-cell immunodeficiency, the advent of next generation sequencing has identified a series of Primary Immunodeficiencies in which EBV-related pathology is the dominant feature...
October 17, 2016: British Journal of Haematology
Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure
PURPOSE: Pediatric inflammatory bowel disease (IBD) is a heterogeneous disorder caused by multiple factors. Although genetic and immunological analyses are required for a definitive diagnosis, no reports of a comprehensive genetic study of a Japanese population are available. METHODS: In total, 35 Japanese patients <16 years of age suffering from IBD, including 27 patients aged <6 years with very early-onset IBD, were enrolled in this multicenter study. Exome and targeted gene panel sequencing was performed for all patients...
October 17, 2016: Journal of Clinical Immunology
Guillermo S Romano Ibarra, Biswajit Paul, Blythe D Sather, Patrick M Younan, Karen Sommer, John P Kowalski, Malika Hale, Barry Stoddard, Jordan Jarjour, Alexander Astrakhan, Hans-Peter Kiem, David J Rawlings
A naturally occurring 32-base pair deletion of the HIV-1 co-receptor CCR5 has demonstrated protection against HIV infection of human CD4(+) T cells. Recent genetic engineering approaches using engineered nucleases to disrupt the gene and mimic this mutation show promise for HIV therapy. We developed a megaTAL nuclease targeting the third extracellular loop of CCR5 that we delivered to primary human T cells by mRNA transfection. The CCR5 megaTAL nuclease established resistance to HIV in cell lines and disrupted the expression of CCR5 on primary human CD4(+) T cells with a high efficiency, achieving up to 80% modification of the locus in primary cells as measured by molecular analysis...
August 23, 2016: Molecular Therapy. Nucleic Acids
Ellen P Carlin, Nichole Giller, Rebecca Katz
OBJECTIVE: To quantify the population at risk of serious adverse reactions to replicating smallpox vaccine. DESIGN AND SAMPLE: Conditions known or suspected to carry risk were identified via Centers for Disease Control and Prevention planning documents, other federal publications, and peer-reviewed literature. Conditions identified were categorized as historically recognized risks or more recently recognized immunocompromised states that may pose risk. Major historical risk factors were as follows: eczema/atopic dermatitis, pregnancy, HIV, and primary immunodeficiency...
October 13, 2016: Public Health Nursing
Bahaa Abu-Raya, Tobias R Kollmann, Arnaud Marchant, Duncan M MacGillivray
Infants born to human immunodeficiency virus (HIV) infected women are HIV-exposed but the majority remains uninfected [i.e., HIV-exposed uninfected (HEU)]. HEU infants suffer greater morbidity and mortality from infections compared to HIV-unexposed (HU) peers. The reason(s) for these worse outcomes are uncertain, but could be related to an altered immune system state. This review comprehensively summarizes the current literature investigating the adaptive and innate immune system of HEU infants. HEU infants have altered cell-mediated immunity, including impaired T-cell maturation with documented hypo- as well as hyper-responsiveness to T-cell activation...
2016: Frontiers in Immunology
Manmeet K Mamik, Eugene L Asahchop, Wing F Chan, Yu Zhu, William G Branton, Brienne A McKenzie, Eric A Cohen, Christopher Power
: HIV-1 infection of the brain causes the neurodegenerative syndrome HIV-associated neurocognitive disorders (HAND), for which there is no specific treatment. Herein, we investigated the actions of insulin using ex vivo and in vivo models of HAND. Increased neuroinflammatory gene expression was observed in brains from patients with HIV/AIDS. The insulin receptor was detected on both neurons and glia, but its expression was unaffected by HIV-1 infection. Insulin treatment of HIV-infected primary human microglia suppressed supernatant HIV-1 p24 levels, reduced CXCL10 and IL-6 transcript levels, and induced peroxisome proliferator-activated receptor gamma (PPAR-γ) expression...
October 12, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Lesia K Dropulic, Howard M Lederman
Understanding the components of the immune system that contribute to host defense against infection is key to recognizing infections that are more likely to occur in an immunocompromised patient. In this review, we discuss the integrated system of physical barriers and of innate and adaptive immunity that contributes to host defense. Specific defects in the components of this system that predispose to particular infections are presented. This is followed by a review of primary immunodeficiency diseases and secondary immunodeficiencies, the latter of which develop because of a specific illness or condition or are treatment-related...
August 2016: Microbiology Spectrum
Manmeet K Mamik, Elizabeth Hui, William G Branton, Brienne A McKenzie, Jesse Chisholm, Eric A Cohen, Christopher Power
Human Immunodeficiency virus (HIV) enters the brain soon after seroconversion and induces chronic neuroinflammation by infecting and activating brain macrophages. Inflammasomes are cytosolic protein complexes that mediate caspase-1 activation and ensuing cleavage and release of IL-1β and -18 by macrophages. Our group recently showed that HIV-1 infection of human microglia induced inflammasome activation in NLRP3-dependent manner. The HIV-1 viral protein R (Vpr) is an accessory protein that is released from HIV-infected cells, although its effects on neuroinflammation are undefined...
October 10, 2016: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
Paola G Bronson, Diana Chang, Tushar Bhangale, Michael F Seldin, Ward Ortmann, Ricardo C Ferreira, Elena Urcelay, Luis Fernández Pereira, Javier Martin, Alessandro Plebani, Vassilios Lougaris, Vanda Friman, Tomáš Freiberger, Jiri Litzman, Vojtech Thon, Qiang Pan-Hammarström, Lennart Hammarström, Robert R Graham, Timothy W Behrens
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10(-8)) loci and association with a rare IFIH1 variant (p.Ile923Val). Peak new variants (PVT1, P = 4.3 × 10(-11); ATG13-AMBRA1, P = 6.7 × 10(-10); AHI1, P = 8.4 × 10(-10); CLEC16A, P = 1.4 × 10(-9)) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3(+) regulatory T cells...
October 10, 2016: Nature Genetics
Gadavalli Vera Venkata Satyakiran, Radhika Manoj Bavle, Glory Alexander, Saritha Rao, Reshma Venugopal, Sreelatha S Hosthor
INTRODUCTION: Human immunodeficiency virus (HIV) infection gradually destroys the body's immune system, which makes it harder for the body to fight infections. HIV infection causes a quantitative and qualitative depletion of CD4 lymphocyte count, which increases the risk of opportunistic infections. Thus, CD4 count is one of the key factors in determining both the urgency of highly active antiretroviral therapy (HAART) initiation and the need of prophylaxis for opportunistic infections...
September 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
Maria Asunción García Gonzalo, María Isabel Santamaría Mas, Lidia Pascual Tomé, Maialen Ibarguren Pinilla, Francisco Rodríguez-Arrondo
AIM: To assess the prevalence of comorbidities, concomitant therapies and adverse effects associated with the medication in a cohort of patients with HIV infection. DESIGN: Multicentre cross-sectional study. SETTINGS: Infectious Diseases or Internal Medicine outpatient Clinics of 3 hospitals in the Basque Country. PARTICIPANTS: During a 3 month period, patients with the following inclusion criteria were randomly selected: HIV infection, age>18years, antiretroviral treatment (ART) for at least 6months, and no changes in ART in the previous 4weeks...
October 5, 2016: Atencion Primaria
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"