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Combined immunodeficiency

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https://www.readbyqxmd.com/read/28748659/mauritian-cynomolgus-macaques-with-m3m4-mhc-genotype-control-sivmac251-infection
#1
Hongzhao Li, Robert W Omange, Chris Czarnecki, Jorge F Correia-Pinto, Jose Crecente-Campo, Meika Richmond, Lin Li, Nancy Schultz-Darken, Maria J Alonso, James B Whitney, Francis A Plummer, Ma Luo
BACKGROUND: Understanding natural HIV control may lead to new preventative or therapeutic strategies. Several protective major histocompatibility complex (MHC) genotypes were found in humans and rhesus macaques. Here, we report a simian immunodeficiency virus (SIV) controller MHC genotype in Mauritian cynomolgus macaques (MCMs). METHODS: Twelve MHC-genotyped MCMs were infected with SIVmac251 and monitored for viral loads and CD4+ T-cell counts. RESULTS: Two macaques with M3M4 genotype exhibited the lowest peak viral loads (log plasma SIV RNA copies/mL), nearly 3 logs lower than those in most macaques with other MHC haplotype combinations, and set point viral loads below the level of detection limit by RT-qPCR (<2 log RNA copies/mL)...
August 2017: Journal of Medical Primatology
https://www.readbyqxmd.com/read/28748650/autopsy-findings-in-epg5-related-vici-syndrome-with-antenatal-onset
#2
Renaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, Florent Marguet, Susan Byrne, Rachael Mein, Shu Yau, Shehla Mohammed, Laurent Guibaud, Mathias Gautel, Heinz Jungbluth
Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28748197/incidence-long-term-outcomes-and-healthcare-utilization-of-patients-with-human-immunodeficiency-virus-acquired-immune-deficiency-syndrome-and-disseminated-mycobacterium-avium-complex-from-1992-2015
#3
Lauren F Collins, Meredith E Clement, Jason E Stout
BACKGROUND: Despite the advent of combination antiretroviral therapy (cART), patients with human immunodeficiency virus (HIV) continue to develop late-stage complications including acquired immune deficiency syndrome (AIDS), disseminated Mycobacterium avium complex (DMAC), and death. METHODS: We performed an observational retrospective cohort study of HIV-infected adults who developed DMAC in the Duke University Health System from 1992 to 2015 to determine the incidence, long-term outcomes, and healthcare utilization of this population at high risk for poor outcomes...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28747915/t-cell-lymphoma-and-leukemia-in-severe-combined-immunodeficiency-pigs-following-bone-marrow-transplantation-a-case-report
#4
Ellis J Powell, Jared Graham, N M Ellinwood, Jesse Hostetter, Michael Yaeger, Chak-Sum Ho, Lynden Gault, Veronica Norlin, Elizabeth N Snella, Jackie Jens, Emily H Waide, Adeline N Boettcher, Maureen Kerrigan, Raymond R R Rowland, Jason W Ross, Jack C M Dekkers, Christopher K Tuggle
After the discovery of naturally occurring severe combined immunodeficiency (SCID) within a selection line of pigs at Iowa State University, we found two causative mutations in the Artemis gene: haplotype 12 (ART12) and haplotype 16 (ART16). Bone marrow transplants (BMTs) were performed to create genetically SCID and phenotypically immunocompetent breeding animals to establish a SCID colony for further characterization and research utilization. Of nine original BMT transfer recipients, only four achieved successful engraftment...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28747913/family-history-of-early-infant-death-correlates-with-earlier-age-at-diagnosis-but-not-shorter-time-to-diagnosis-for-severe-combined-immunodeficiency
#5
Anderson Dik Wai Luk, Pamela P Lee, Huawei Mao, Koon-Wing Chan, Xiang Yuan Chen, Tong-Xin Chen, Jian Xin He, Nadia Kechout, Deepti Suri, Yin Bo Tao, Yong Bin Xu, Li Ping Jiang, Woei Kang Liew, Orathai Jirapongsananuruk, Tassalapa Daengsuwan, Anju Gupta, Surjit Singh, Amit Rawat, Amir Hamzah Abdul Latiff, Anselm Chi Wai Lee, Lynette P Shek, Thi Van Anh Nguyen, Tek Jee Chin, Yin Hsiu Chien, Zarina Abdul Latiff, Thi Minh Huong Le, Nguyen Ngoc Quynh Le, Bee Wah Lee, Qiang Li, Dinesh Raj, Mohamed-Ridha Barbouche, Meow-Keong Thong, Maria Carmen D Ang, Xiao Chuan Wang, Chen Guang Xu, Hai Guo Yu, Hsin-Hui Yu, Tsz Leung Lee, Felix Yat Sun Yau, Wilfred Hing-Sang Wong, Wenwei Tu, Wangling Yang, Patrick Chun Yin Chong, Marco Hok Kung Ho, Yu Lung Lau
BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis. OBJECTIVE: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID. METHODS: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28747605/omenn-syndrome-and-dna-recombination-defects
#6
Akihiro Yachie
  Mutations in the RAG1/RAG2 genes are associated with a broad spectrum of clinical phenotypes, ranging from severe combined immunodeficiency to various autoimmune diseases. The diversity of the clinical symptoms is determined not only by the residual RAG recombinase enzyme activity as determined by the mutations, but also by multiple environmental factors and, in rare cases, by second site mutations within the RAG1/RAG2 genes. The residual recombinase activity is responsible for the oligoclonal expansion of autoreactive T cells...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28747600/severe-combined-immunodeficiency-from-its-discovery-to-the-perspective
#7
Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio
  Severe combined immunodeficiency (SCID) is impaired in lymphocyte development and function. Affected children have extreme susceptibility to infections, which are fatal in the first year of life without treatment. The estimate of incidence is one in approximately 50,000 live birth. The first series of diseases were described in 1950s, and all patients died in infancy. The first transplant for SCID was carried out in 1968, and it has been described that SCID patients could be treated by hematopoietic stem cell transplantation (HSCT) since then...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28747257/cells-with-treg-specific-foxp3-demethylation-but-low-cd25-are-prevalent-in-autoimmunity
#8
Ricardo C Ferreira, Henry Z Simons, Whitney S Thompson, Daniel B Rainbow, Xin Yang, Antony J Cutler, Joao Oliveira, Xaquin Castro Dopico, Deborah J Smyth, Natalia Savinykh, Meghavi Mashar, Tim J Vyse, David B Dunger, Helen Baxendale, Anita Chandra, Chris Wallace, John A Todd, Linda S Wicker, Marcin L Pekalski
Identification of alterations in the cellular composition of the human immune system is key to understanding the autoimmune process. Recently, a subset of FOXP3(+) cells with low CD25 expression was found to be increased in peripheral blood from systemic lupus erythematosus (SLE) patients, although its functional significance remains controversial. Here we find in comparisons with healthy donors that the frequency of FOXP3(+) cells within CD127(low)CD25(low) CD4(+) T cells (here defined as CD25(low)FOXP3(+) T cells) is increased in patients affected by autoimmune disease of varying severity, from combined immunodeficiency with active autoimmunity, SLE to type 1 diabetes...
July 23, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28741180/loss-of-nhej1-protein-due-to-a-novel-splice-site-mutation-in-a-family-presenting-with-combined-immunodeficiency-microcephaly-and-growth-retardation-and-literature-review
#9
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, Sulaiman Al Gazlan, Hasan Al Dhekri, Agha M Rehan Khaliq, Esteban Borrero, Lina El-Baik, Rand Arnaout, Hamoud Al-Mousa, Anas M Alazami
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS: Patients' clinical, immunological, and laboratory features were examined...
July 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28738768/current-status-of-the-pharmacokinetics-and-pharmacodynamics-of-hiv-1-entry-inhibitors-and-hiv-therapy
#10
Fengyan Xu, Edward P Acosta, Liyu Liang, Yingchun He, Juan Yang, Corenna Kerstner-Wood, Qingshang Zheng, Jihan Huang, Kun Wang
Human immunodeficiency virus (HIV) entry inhibitors target the first step of the HIV life cycle and efficiently inhibit HIV from infecting the immune cells which is a key prerequisite for viral spread. Because of their unique mechanism of action on cell-cell transmission they may provide a promising perspective for the treatment of AIDS. Maraviroc (MVC) and Enfuvirtide (ENF) have been approved by the FDA for the treatment of HIV-1 infection. Attachment inhibitors (BMS-663068 and TNX-355) and co-receptor inhibitors (PRO-140 and Cenicriviroc (CVC)) have reached phase II or III clinical trials...
July 24, 2017: Current Drug Metabolism
https://www.readbyqxmd.com/read/28738755/qsar-dft-and-molecular-modeling-studies-of-peptides-from-hiv-1-to-describe-their-recognition-properties-by-mhc-i
#11
S Andrade-Ochoa, J García-Machorro, Martiniano Bello, L M Rodríguez-Valdez, C A Flores-Sandoval, J Correa-Basurto
Human immunodeficiency virus type-1 (HIV-1) has infected more than 40 million people around the world. HIV-1 treatment still has several side effects, and the development of a vaccine, which is another potential option for decreasing human infections, has faced challenges. This work presents a computational study that includes a quantitative structure activity relationship (QSAR) using density functional theory for reported peptides to identify the principal quantum mechanics descriptors related to peptide activity...
July 25, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28736065/common-variable-immunodeficiency-associated-granulomatous-and-lymphocytic-interstitial-lung-disease-successfully-treated-with-a-combination-regimen-of-rituximab-and-azathioprine
#12
Sananda I Moctezuma, Carlos M Panizo, Manuel F Landecho
No abstract text is available yet for this article.
July 20, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28735354/transplantation-sites-for-human-and-murine-islets
#13
Rebecca A Stokes, Kim Cheng, Amit Lalwani, Michael M Swarbrick, Helen E Thomas, Thomas Loudovaris, Tom W Kay, Wayne J Hawthorne, Philip J O'Connell, Jenny E Gunton
AIMS/HYPOTHESIS: Beta cell replacement is a potential cure for type 1 diabetes. In humans, islet transplants are currently infused into the liver via the portal vein, although this site has disadvantages. Here, we investigated alternative transplantation sites for human and murine islets in recipient mice, comparing the portal vein with quadriceps muscle and kidney, liver and spleen capsules. METHODS: Murine islets were isolated from C57BL6/J mice and transplanted into syngeneic recipients...
July 22, 2017: Diabetologia
https://www.readbyqxmd.com/read/28734679/assessment-of-biodistribution-using-mesenchymal-stromal-cells-algorithm-for-study-design-and-challenges-in-detection-methodologies
#14
Blanca Reyes, Maria Isabel Coca, Margarita Codinach, María Dolores López-Lucas, Anna Del Mazo-Barbara, Marta Caminal, Irene Oliver-Vila, Valentín Cabañas, Silvia Lope-Piedrafita, Joan García-López, José M Moraleda, Cesar G Fontecha, Joaquim Vives
BACKGROUND AIMS: Biodistribution of candidate cell-based therapeutics is a critical safety concern that must be addressed in the preclinical development program. We aimed to design a decision tree based on a series of studies included in actual dossiers approved by competent regulatory authorities, noting that the design, execution and interpretation of pharmacokinetics studies using this type of therapy is not straightforward and presents a challenge for both developers and regulators...
July 19, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28733129/endocannabinoids-exert-cb1-receptor-mediated-neuroprotective-effects-in-models-of-neuronal-damage-induced-by-hiv-1-tat-protein
#15
Changqing Xu, Douglas J Hermes, Blessing Nwanguma, Ian R Jacobs, Kenneth Mackie, Somnath Mukhopadhyay, Aron H Lichtman, Bogna Ignatowska-Jankowska, Sylvia Fitting
In the era of combined antiretroviral therapy (cART), human immunodeficiency virus type 1 (HIV-1) is considered a chronic disease that specifically targets the brain and causes HIV-1-associated neurocognitive disorders (HAND). Endocannabinoids (eCBs) elicit neuroprotective and anti-inflammatory actions in several central nervous system (CNS) disease models, but their effects in HAND remain unknown. HIV-1 does not infect neurons, but produces viral toxins, such as transactivator of transcription (Tat), that disrupt neuronal calcium equilibrium and give rise to synaptodendritic injuries and cell death, the former being highly correlated with HAND...
July 18, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28732118/pd-1-checkpoint-blockade-in-combination-with-an-mtor-inhibitor-restrains-hepatocellular-carcinoma-growth-induced-by-hepatoma-cell-intrinsic-pd-1
#16
Hui Li, Xiaoqiang Li, Shuang Liu, Lei Guo, Bo Zhang, Jubo Zhang, Qinghai Ye
Inhibitors of PD-1 administered as single agents have resulted in durable tumor regression in advanced cancer patients. However, only a minority of cancer patients respond to anti PD-1 immunotherapy. Here, we show that PD-1 expression in hepatocellular carcinoma (HCC) promotes tumor growth independently of adaptive immunity. Knockdown of PD-1 suppress tumor growth, whereas PD-1 overexpression enhances tumorigenesis in immunodeficient xenografted mice. Mechanistically, PD-1 binds the downstream mTOR effectors eukaryotic initiation factor 4E (eIF4E) and ribosomal protein S6 (S6), thus promoting their phosphorylation...
July 21, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28730965/efficient-non-invasive-plasmid-dna-administration-into-tibialis-cranialis-muscle-of-little-mice
#17
C R Cecchi, E Higuti, E R Lima, D P Vieira, P L Squair, C N Peroni, P Bartolini
An alternative treatment for growth hormone deficiency based on hGH-DNA administration, followed by electro gene transfer, was investigated by injecting the plasmid into surgically exposed or non-exposed quadriceps or tibialis muscle of immunodeficient "little" mice. Previously optimized electrotransfer conditions were also improved via a new combination of high/low voltage pulses: after 3 days, serum hGH was determined. Both groups exhibited similar results: 5.0 ± 2.2 (SD) and 3.5 ± 0.9 ng hGH/ml (P>0...
July 21, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28729231/cernunnos-deficiency-associated-with-bcg-adenitis-and-autoimmunity-first-case-from-the-national-iranian-registry-and-review-of-the-literature
#18
Reza Yazdani, Hassan Abolhassani, Javad Tafaroji, Gholamreza Azizi, Raif S Geha, Asghar Aghamohammadi
Non-homologous end-joining (NHEJ) is a pathway that repairs double-strand breaks (DSB) in DNA and plays a vital role in V(D)J recombination of immunoglobulin genes. Cernunnos is a DNA repair factor that is involved in nonhomologous end-joining (NHEJ) process. Impairment in Cernunnos leads to a genetic disease characterized by neural disorders, immunodeficiency and increased radiosensitivity. We herein describe a severe combined immunodeficiency (SCID) patient with T- B+ phenotype who had a mutation in Cernunnos gene and manifested recurrent infections, microcephaly and growth retardation with hypogammaglobulinemia...
July 17, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28727579/enhanced-anticancer-efficacy-of-histone-deacetyl-inhibitor-suberoylanilide-hydroxamic-acid-in-combination-with-a-phosphodiesterase-inhibitor-pentoxifylline-in-human-cancer-cell-lines-and-in-vivo-tumor-xenografts
#19
Saranya Nidhyanandan, Boreddy S Thippeswamy, Kottapalli B Chandrasekhar, Neetinkumar D Reddy, Nagaraj M Kulkarni, Kandasamy Karthikeyan, Farhin R Khan, Jayaprakash Raghul, Govindharajan Vijaykanth, Shridhar Narayanan
Vorinostat [suberoylanilide hydroxamic acid (SAHA)], a histone deacetylase inhibitor, shows limited clinical activity against solid tumors when used alone. The methyl xanthine drug, pentoxifylline (PENT), has been described to have antitumor properties. The aim of this study was to look for the enhanced anticancer activities of both agents when used in combination at doses lower than their respective efficacy dose when used alone. We investigated the antitumor potential of this novel combination in vitro and in vivo...
July 19, 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28725640/risk-factors-for-impaired-fasting-glucose-or-diabetes-among-hiv-infected-patients-on-art-in-the-copperbelt-province-of-zambia
#20
Perfect Shankalala, Choolwe Jacobs, Samuel Bosomprah, Michael Vinikoor, Patrick Katayamoyo, Charles Michelo
BACKGROUND: Africa has a high prevalence of both Human Immunodeficiency Virus and Non Communicable Diseases (NCDs) but in Zambia there are few data on co-morbid NCDs like Diabetes Mellitus (DM) among HIV-infected individuals. We aimed to identify risk factors for impaired fasting glucose or diabetes among HIV-infected Zambians on long-term Combined Antiretroviral Treatment (cART). METHODS: This was a cross sectional study of adult HIV patients in five health facilities of Copperbelt Province in Zambia...
2017: Journal of Diabetes and Metabolic Disorders
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