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Primary Immunodeficiency

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https://www.readbyqxmd.com/read/28634358/hiv-1-gp41-targeting-fusion-inhibitory-peptides-enhance-the-gp120-targeting-protein-mediated-inactivation-of-hiv-1-virions
#1
Qianqian Qi, Qian Wang, Weizao Chen, Lanying Du, Dimiter S Dimitrov, Lu Lu, Shibo Jiang
Protein- or peptide-based viral inactivators are being developed as novel antiviral drugs with improved efficacy, pharmacokinetics and toxicity profiles because they actively inactivate cell-free human immunodeficiency virus type 1 (HIV-1) virions before attachment to host cells. By contrast, most clinically used antiviral drugs must penetrate host cells to inhibit viral replication. In this study, we pre-treated HIV-1 particles with a gp120-targeting bispecific multivalent protein, 2Dm2m or 4Dm2m, in the presence or absence of the gp41-targeting HIV-1 fusion inhibitory peptides enfuvirtide (T20), T2635, or sifuvirtide (SFT)...
June 21, 2017: Emerging Microbes & Infections
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/28630076/what-are-the-primary-limitations-in-b-cell-affinity-maturation-and-how-much-affinity-maturation-can-we-drive-with-vaccination-is-affinity-maturation-a-self-defeating-process-for-eliciting-broad-protection
#3
Christopher T Stamper, Patrick C Wilson
Vaccinations are one of the greatest success stories of modern medicine, saving millions of lives since their widespread adoption. However, several diseases continue to elude highly effective vaccination strategies. Chief among these are human immunodeficiency virus (HIV) and influenza (flu), both of which will require vaccines that can guide the creation of highly mutated, broadly neutralizing antibodies (bnAbs). The generation of bnAbs is hindered by our inability to effectively drive the high levels of affinity maturation required to achieve them in a large number of cells...
June 19, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28626835/disrupted-er-to-golgi-trafficking-underlies-anti-hiv-drugs-and-alcohol-induced-cellular-stress-and-hepatic-injury
#4
Hui Han, Yuxin He, Jay Hu, Rhema Lau, Harrison Lee, Cheng Ji
Endoplasmic reticulum (ER) stress and unfolded protein response (UPR) are involved in anti-human immunodeficiency virus (HIV) drugs and alcohol-induced liver disease in a significant number of patients infected with HIV. However, the precise mechanism by which the drugs and alcohol cause ER stress remains elusive. We found that ritonavir-boosted lopinavir (RL) activated two canonical UPR branches without activation of the third canonical activating transcription factor 6 (ATF6) branch in either HepG2 cells or primary mouse hepatocytes...
April 2017: Hepatol Commun
https://www.readbyqxmd.com/read/28626778/single-cell-based-vector-tracing-in-patients-with-ada-scid-treated-with-stem-cell-gene-therapy
#5
Yuka Igarashi, Toru Uchiyama, Tomoko Minegishi, Sirirat Takahashi, Nobuyuki Watanabe, Toshinao Kawai, Masafumi Yamada, Tadashi Ariga, Masafumi Onodera
Clinical improvement in stem cell gene therapy (SCGT) for primary immunodeficiencies depends on the engraftment levels of genetically corrected cells, and tracing the transgene in each hematopoietic lineage is therefore extremely important in evaluating the efficacy of SCGT. We established a single cell-based droplet digital PCR (sc-ddPCR) method consisting of the encapsulation of a single cell into each droplet, followed by emulsion PCR with primers and probes specific for the transgene. A fluorescent signal in a droplet indicates the presence of a single cell carrying the target gene in its genome, and this system can clearly determine the ratio of transgene-positive cells in the entire population at the genomic level...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28625885/dock8-deficiency-insights-into-pathophysiology-clinical-features-and-management
#6
REVIEW
Catherine M Biggs, Sevgi Keles, Talal A Chatila
Dedicator of Cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer. It is caused by loss of function mutations in DOCK8, encoding a guanine nucleotide exchange factor highly expressed in lymphocytes that regulates the actin cytoskeleton. Additional roles of DOCK8 have also emerged, including regulating MyD88-dependent Toll-like receptor signaling and the activation of the transcription factor STAT3...
June 15, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28623346/early-onset-primary-antibody-deficiency-resembling-common-variable-immunodeficiency-challenges-the-diagnosis-of-wiedeman-steiner-and-roifman-syndromes
#7
Delfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P Leroy, Julie E Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N Lambrecht, Frans De Baets, Sergio D Rosenzweig, Elfride De Baere, Filomeen Haerynck
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28623282/a-nationwide-study-of-severe-and-protracted-diarrhoea-in-patients-with-primary-immunodeficiency-diseases
#8
Wen-I Lee, Chien-Chang Chen, Tang-Her Jaing, Liang-Shiou Ou, Chuen Hsueh, Jing-Long Huang
Diarrhoea lasting longer than 14 days and failing to respond to conventional management is defined as severe and protracted diarrhoea (SD). In this study, we investigated the prevalence, pathogens and prognosis of SD in primary immunodeficiency diseases (PIDs). Among 246 patients with predominantly paediatric-onset PIDs from 2003-2015, 21 [Btk (six), IL2RG (four), WASP, CD40L, gp91 (three each), gp47, RAG2 (one each)] and five [CVID (four), SCID (one)] without identified mutations had SD before prophylactic treatment...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28623128/targeting-pi3k-akt-mtor-by-ly3023414-inhibits-human-skin-squamous-cell-carcinoma-cell-growth-in-vitro-and-in-vivo
#9
Ying Zou, Minggai Ge, Xuemin Wang
Abnormal activation of PI3K-AKT-mTOR signaling is detected in human skin squamous cell carcinoma (SCC). LY3023414 is a novel, potent, and orally bio-available PI3K-AKT-mTOR inhibitor. Its activity against human skin SCC cells was tested. We demonstrated that LY3023414 was cytotoxic when added to established (A431 line) and primary (patient-derived) human skin SCC cells. LY3023414 induced G0/1-S arrest and inhibited proliferation of skin SCC cells. Moreover, LY3023414 induced activation of caspase-3/-9 and apoptosis in skin SCC cells...
June 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28622118/imaging-spectrum-of-invasive-fungal-and-fungal-like-infections
#10
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/28621249/tuberculosis-masked-by-immunodeficiency-a-review-of-two-cases-diagnosed-with-chronic-granulomatous-disease
#11
Hikmet Tekin Nacaroğlu, Semiha Bahçeci Erdem, Nesrin Gülez, Canan Şule Ünsal Karkıner, İlker Devrim, Ferah Genel, Mustafa Yavuz Köker, Demet Can
Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency that is characterized by recurrent and life-threatening infections resulting from defects in phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system and granuloma formation due to increased inflammatory response. The most commonly involved organs are the lungs, skin, lymph nodes, and liver due to infection. It may present with recurrent pneumonia, hilar lymphadenopathy, empyema, abscess, reticulonodular patterns, and granulomas due to lung involvement...
March 2017: Tüberküloz Ve Toraks
https://www.readbyqxmd.com/read/28615731/the-role-of-il-6-in-host-defence-against-infections-immunobiology-and-clinical-implications
#12
REVIEW
Stefan Rose-John, Kevin Winthrop, Leonard Calabrese
IL-6 is a pleiotropic cytokine with broad-ranging effects within the integrated immune response. One of the roles of IL-6 is to support immunocompetence, defined as the ability of a host to respond to infections. Understanding the precise role of this cytokine in immunocompetence requires a critical appraisal of data derived from both preclinical and clinical studies. Primary immunodeficiency diseases involving IL-6 or its signalling pathways reveal that IL-6 is critical in the defence against numerous types of pathogens...
June 15, 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28615691/human-myogenic-reserve-cells-are-quiescent-stem-cells-that-contribute-to-muscle-regeneration-after-intramuscular-transplantation-in-immunodeficient-mice
#13
Thomas Laumonier, Flavien Bermont, Pierre Hoffmeyer, Vincent Kindler, Jacques Menetrey
Satellite cells, localized within muscles in vivo, are Pax7(+) muscle stem cells supporting skeletal muscle growth and regeneration. Unfortunately, their amplification in vitro, required for their therapeutic use, is associated with reduced regenerative potential. In the present study, we investigated if human myogenic reserve cells (MRC) obtained in vitro, represented a reliable cell source for muscle repair. For this purpose, primary human myoblasts were freshly isolated and expanded. After 2 days of differentiation, 62 ± 2...
June 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28614691/a-trial-of-itraconazole-or-amphotericin-b-for-hiv-associated-talaromycosis
#14
RANDOMIZED CONTROLLED TRIAL
Thuy Le, Nguyen Van Kinh, Ngo T K Cuc, Nguyen L N Tung, Nguyen T Lam, Pham T T Thuy, Do D Cuong, Pham T H Phuc, Vu H Vinh, Doan T H Hanh, Vu Van Tam, Nguyen T Thanh, Tran P Thuy, Nguyen T Hang, Hoang B Long, Ho T Nhan, Heiman F L Wertheim, Laura Merson, Cecilia Shikuma, Jeremy N Day, Nguyen V V Chau, Jeremy Farrar, Guy Thwaites, Marcel Wolbers
BACKGROUND: Talaromyces marneffei infection is a major cause of human immunodeficiency virus (HIV)-related death in South and Southeast Asia. Guidelines recommend initial treatment with amphotericin B deoxycholate, but this drug has substantial side effects, a high cost, and limited availability. Itraconazole is available in oral form, is associated with fewer unacceptable side effects than amphotericin, and is widely used in place of amphotericin; however, clinical trials comparing these two treatments are lacking...
June 15, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28609016/multiparametric-whole-blood-dissection-a-one-shot-comprehensive-picture-of-the-human-hematopoietic-system
#15
Luca Basso-Ricci, Serena Scala, Raffaella Milani, Maddalena Migliavacca, Attilio Rovelli, Maria Ester Bernardo, Fabio Ciceri, Alessandro Aiuti, Luca Biasco
Human hematopoiesis is a complex and dynamic system where morphologically and functionally diverse mature cell types are generated and maintained throughout life by bone marrow (BM) Hematopoietic Stem/Progenitor Cells (HSPC). Congenital and acquired hematopoietic disorders are often diagnosed through the detection of aberrant frequency or composition of hematopoietic cell populations. We here describe a novel protocol, called "Whole Blood Dissection" (WBD), capable of analyzing in a single test-tube, hematopoietic progenitors and all major mature cell lineages composing either BM or peripheral blood (PB) through a multiparametric flow-cytometry analysis...
June 13, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28606585/cancer-in-primary-immunodeficiency-diseases-cancer-incidence-in-the-united-states-immune-deficiency-network-registry
#16
Paul C Mayor, Kevin H Eng, Kelly L Singel, Scott I Abrams, Kunle Odunsi, Kirsten B Moysich, Ramsay Fuleihan, Elizabeth Garabedian, Patricia Lugar, Hans D Ochs, Francisco A Bonilla, Rebecca H Buckley, Kathleen E Sullivan, Zuhair K Ballas, Charlotte Cunningham-Rundles, Brahm H Segal
BACKGROUND: We evaluated the overall and site-specific incidence of cancer in subjects with primary immunodeficiency diseases (PIDD) enrolled in the United States Immune Deficiency Network (USIDNET) registry compared with age-adjusted cancer incidence in the Surveillance, Epidemiology and End Results Program (SEER) database. We hypothesized that subjects with PIDD would have an increased incidence of cancer due to impaired immune function. METHODS: Overall and site-specific cancer incidence rates were evaluated in subjects with PIDD (n = 3,658) enrolled in the USIDNET registry from 2003-2015, and compared with age-adjusted incidence rates in the SEER database...
June 9, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28606085/care-cascade-structural-intervention-versus-standard-of-care-in-the-diagnosis-and-treatment-of-hiv-in-china-a-cluster-randomized-controlled-trial-protocol
#17
Yurong Mao, Zunyou Wu, Jennifer M McGoogan, David Liu, Diane Gu, Lynda Erinoff, Walter Ling, Paul VanVeldhuisen, Roger Detels, Albert L Hasson, Robert Lindblad, Julio S G Montaner, Zhenzhu Tang, Yan Zhao
BACKGROUND: The high rate of attrition along the care cascade of infection with human immunodeficiency virus (HIV) results in lost opportunities to provide timely antiretroviral therapy (ART) and to prevent unnecessarily high mortality. This study aims to assess the effectiveness of a structural intervention, the one-stop ("One4All") strategy that streamlines China's HIV care cascade with the intent to improve testing completeness, ART initiation, viral suppression, and mortality. METHOD: A two-arm, cluster-randomized controlled trial was implemented in twelve county hospitals in Guangxi China to test the effectiveness of the One4All strategy (intervention arm) compared to the current standard of care (SOC; control arm)...
June 12, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28606051/comparison-of-bone-mineral-density-in-common-variable-immunodeficiency-and-x-linked-agammaglobulinaemia-patients
#18
Ali Mohebbi, Gholamreza Azizi, Naeimeh Tavakolinia, Mehdi Karimipour, Fatemeh Kiaee, Reza Yazdani, Sareh Sadat Ebrahimi, Hosein Rafiemanesh, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi, Farzaneh Abbasi, Fatemeh Sayarifard, Mehran Ebrahimi, Javad Tafaroji
BACKGROUND: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. In the present study, our aim was to evaluate bone mineral density (BMD) of patients with CVID and XLA...
June 11, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28603521/novel-combined-immune-deficiency-and-radiation-sensitivity-blended-phenotype-in-an-adult-with-biallelic-variations-in-zap70-and-rnf168
#19
Ivan K Chinn, Robert P Sanders, Asbjørg Stray-Pedersen, Zeynep H Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Chaim M Roifman, Troy Quigg, James R Lupski, Jordan S Orange, I Celine Hanson
With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these "mendelizing" disease traits represent phenotypes caused by single-gene defects, a percentage of patients have blended phenotypes caused by pathogenic variants in multiple genes. We describe an adult patient with susceptibility to bacterial, herpesviral, and fungal infections...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28601685/hematopoietic-stem-cell-transplantation-in-patients-with-gain-of-function-stat1-mutation
#20
Jennifer W Leiding, Satoshi Okada, David Hagin, Mario Abinun, Anna Shcherbina, Dmitry N Balashov, Vy H D Kim, Adi Ovadia, Stephen L Guthery, Michael Pulsipher, Desa Lilic, Lisa A Devlin, Sharon Christie, Mark Depner, Sebastian Fuchs, Annet van Royen-Kerkhof, Caroline Lindemans, Aleksandra Petrovic, Kathleen E Sullivan, Nancy Bunin, Sara Sebnem Kilic, Fikret Arpaci, Oscar de la Calle-Martin, Laura Martinez-Martinez, Juan Carlos Aldave, Masao Kobayashi, Teppei Ohkawa, Kohsuke Imai, Akihiro Iguchi, Chaim M Roifman, Andrew R Gennery, Mary Slatter, Hans D Ochs, Tomohiro Morio, Troy R Torgerson
BACKGROUND: Gain of function mutations in signal transducer and activator of transcription 1 (GOF-STAT1) cause a susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life threatening. Hematopoietic stem cell transplantation (HSCT) has been utilized in some patients with more severe symptoms to treat and cure the disorder. The outcome of HSCT for this disorder is, however, not well established...
June 7, 2017: Journal of Allergy and Clinical Immunology
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