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severe combined immune deficiency

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https://www.readbyqxmd.com/read/27909766/association-between-tlr2-tlr4-gene-polymorphisms-and-copd-phenotype-in-a%C3%A2-greek-cohort
#1
A Apostolou, T Kerenidi, A Michopoulos, K I Gourgoulianis, M Noutsias, A E Germenis, M Speletas
BACKGROUND: Considering that the innate immune system plays a pivotal role in the pathogenesis of chronic obstructive pulmonary disease (COPD), we hypothesized that functional single-nucleotide polymorphisms (SNPs) of innate immune genes affect the disease phenotype and prognosis. AIM: To elucidate the contribution of common functional TLR2 and TLR4 SNPs and genotypic deficiency of the mannose-binding lectin (MBL) protein, both as single parameters and in combination, in Greek COPD patients...
December 1, 2016: Herz
https://www.readbyqxmd.com/read/27906690/the-long-road-to-leptin
#2
Jeffrey Friedman
Leptin is an adipose tissue hormone that functions as an afferent signal in a negative feedback loop that maintains homeostatic control of adipose tissue mass. This endocrine system thus serves a critical evolutionary function by protecting individuals from the risks associated with being too thin (starvation) or too obese (predation and temperature dysregulation). Mutations in leptin or its receptor cause massive obesity in mice and humans, and leptin can effectively treat obesity in leptin-deficient patients...
December 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27895821/implanting-1-1b4-human-%C3%AE-cell-pseudoislets-improves-glycaemic-control-in-diabetic-severe-combined-immune-deficient-mice
#3
Alastair D Green, Srividya Vasu, Neville H McClenaghan, Peter R Flatt
AIM: To investigate the potential of implanting pseudoislets formed from human insulin-releasing β-cell lines as an alternative to islet transplantation. METHODS: In this study, the anti-diabetic potential of novel human insulin releasing 1.1B4 β-cells was evaluated by implanting the cells, either as free cell suspensions, or as three-dimensional pseudoislets, into the subscapular region of severe combined immune deficient mice rendered diabetic by single high-dose administration of streptozotocin...
November 15, 2016: World Journal of Diabetes
https://www.readbyqxmd.com/read/27862280/melatonin-is-required-for-h2-o2-and-no-mediated-defense-signaling-through-mapkkk3-and-oxi1-in-arabidopsis-thaliana
#4
Hyoung Yool Lee, Kyoungwhan Back
Melatonin influences plant innate immunity through the mitogen-activated protein kinase (MAPK) pathway. However, the most upstream MAPK component in melatonin signaling and the dependence of generation of a reactive oxygen species (ROS) burst on melatonin synthesis and signaling remain unclear. In this study, treatment of several mekk (alias mapkkk)-knockout Arabidopsis mutants with melatonin revealed that the MAPKKK3 and OXI1 (oxidative signal-inducible1) kinases are responsible for triggering melatonin-induced defense signaling pathways...
November 18, 2016: Journal of Pineal Research
https://www.readbyqxmd.com/read/27862277/omenn-syndrome-presenting-with-striking-erythroderma-and-extreme-lymphocytosis-in-a-newborn
#5
Rabia Zafar, Aaron Ver Heul, Avraham Beigelman, Jeffrey J Bednarski, Susan J Bayliss, Louis P Dehner, Ilana S Rosman, Carrie C Coughlin
Omenn syndrome is an autosomal recessive form of "leaky" severe combined immune deficiency resulting in distinct phenotypic features. The patient described herein had an atypical presentation of Omenn syndrome, with conspicuous erythroderma and extreme lymphocytosis at birth, in contrast to the typical evolution of rash seen during the first few weeks of life. In addition, the skin findings were secondary to infiltration of CD8(+) (cytotoxic) T-cells in contrast to the CD4(+) (helper) T-cells typically seen, which broadens the Omenn syndrome phenotype...
November 12, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27855706/human-class-i-major-histocompatibility-complex-alleles-determine-central-nervous-system-injury-versus-repair
#6
Bharath Wootla, Aleksandar Denic, Jens O Watzlawik, Arthur E Warrington, Laurie J Zoecklein, Louisa M Papke-Norton, Chella David, Moses Rodriguez
BACKGROUND: We investigated the role of human HLA class I molecules in persistent central nervous system (CNS) injury versus repair following virus infection of the CNS. METHODS: Human class I A11(+) and B27(+) transgenic human beta-2 microglobulin positive (Hβ2m(+)) mice of the H-2 (b) background were generated on a combined class I-deficient (mouse beta-2 microglobulin deficient, β2m(0)) and class II-deficient (mouse Aβ(0)) phenotype. Intracranial infection with Theiler's murine encephalomyelitis virus (TMEV) in susceptible SJL mice results in acute encephalitis with prominent injury in the hippocampus, striatum, and cortex...
November 17, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27836056/vaccination-in-primary-immunodeficiency-disorders
#7
Ali Sobh, Francisco A Bonilla
Immunocompromised patients have increased susceptibility to vaccine-preventable infections. Thus, vaccination is a critical issue in this population. Vaccines are usually classified as live versus inactivated or subunit (nonviable) vaccines. In general, inactivated vaccines are safe in immunocompromised patients and should be given per the routine schedule except when they are unlikely to have any benefit as in severe antibody deficiency or combined immunodeficient patients and patients receiving immunosuppressive therapy or immunoglobulin replacement...
November 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27812706/vitamin-d-deficiency-in-hiv-infected-children
#8
Ayesha Mirza, Saran Wells, Tabitha Gayton, Carmen Smotherman, Azeem Rathore, Dale Kraemer, Mobeen Rathore
OBJECTIVES: Improvement in life expectancy with the use of combination antiretroviral therapy has come with the recognition of the complications associated with chronic human immunodeficiency virus infection. Vitamin D has been of particular interest because of its effect on bone health and immune functions. The purpose of this study was to assess vitamin D status in children in relation to the duration and severity of their human immunodeficiency virus infection and nutritional status, as well as to determine whether there was any effect of seasonality...
November 2016: Southern Medical Journal
https://www.readbyqxmd.com/read/27808398/homozygous-deletion-of-rag1-rag2-and-5-region-traf6-causes-severe-immune-suppression-and-atypical-osteopetrosis
#9
Monika Weisz Hubshman, Lina Basel-Vanagaite, Aviva Krauss, Osnat Konen, Yael Levy, Ben Zion Garty, Pola Smirin-Yosef, Idit Maya, Irina Lagovsky, Ellen Taub, Daphna Marom, Dafna Gaash, Keren Shichrur, Smadar Avigad, Lucille Hayman Manzur, Anna Villa, Cristina Sobacchi, Mordechai Shohat, Isaac Yaniv, Jerry Stein
Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T-cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported...
November 3, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27806326/glypican-5-suppresses-epithelial-mesenchymal-transition-of-the-lung-adenocarcinoma-by-competitively-binding-to-wnt3a
#10
Siwei Wang, Mantang Qiu, Wenjia Xia, Youtao Xu, Qixing Mao, Jie Wang, Gaochao Dong, Lin Xu, Xin Yang, Rong Yin
We previously demonstrated that Glypican-5 (GPC5), one of the members of heparan sulfate proteoglycan, was a novel tumor metastasis suppressor in lung adenocarcinoma (LAC). However, it remains unclear how GPC5 suppresses lung cancer metastasis. Here, we found over-expression GPC5 induced significant Epithelial-Mesenchymal Transition (EMT) process of A549 cells in vitro. Bioinformatic analysis of RNA sequencing data indicated that GPC5 was co-expressed with EMT related markers, E-cadherin and Vimentin. Wnt/β-catenin signaling pathway was also significantly enriched after overexpressing GPC5...
October 27, 2016: Oncotarget
https://www.readbyqxmd.com/read/27795434/clec5a-mediated-enhancement-of-the-inflammatory-response-in-myeloid-cells-contributes-to-influenza-pathogenicity-in-vivo
#11
Ooiean Teng, Szu-Ting Chen, Tsui-Ling Hsu, Sin Fun Sia, Suzanne Cole, Sophie A Valkenburg, Tzu-Yun Hsu, Jian Teddy Zheng, Wenwei Tu, Roberto Bruzzone, Joseph Sriyal Malik Peiris, Shie-Liang Hsieh, Hui-Ling Yen
: Human infections with influenza viruses exhibit mild to severe clinical outcome as a result of complex virus-host interactions. Induction of inflammatory mediators via pattern recognition receptors may dictate subsequent host responses for pathogen clearance and tissue damage. We identified that human C-type lectin member 5A (CLEC5A) interacts with the hemagglutinin protein of influenza viruses expressed on lentiviral pseudoparticles through lectin screening. Silencing CLEC5A gene expression, blocking influenza-CLEC5A interactions with anti-CLEC5A antibodies, or dampening CLEC5A-mediated signaling using a spleen tyrosine kinase inhibitor consistently reduced the levels of pro-inflammatory cytokines produced by human macrophages without affecting the replication of influenza A viruses of different subtypes...
October 19, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27779444/selective-anticancer-activity-of-acacetin-against-chronic-lymphocytic-leukemia-using-both-in-vivo-and-in-vitro-methods-key-role-of-oxidative-stress-and-cancerous-mitochondria
#12
Ahmad Salimi, Mehryar Habibi Roudkenar, Leila Sadeghi, Alireza Mohseni, Enayatollah Seydi, Nahal Pirahmadi, Jalal Pourahmad
The present study investigates the in vitro and in vivo effect of acacetin (4'-methoxy-5,7-dihydroxyflavone) on chronic lymphocytic leukemia (CLL) B-lymphocytes and mitochondria. CLL B-lymphocytes and healthy B-lymphocytes were obtained from CLL patients and healthy donors, respectively. Mitochondria were isolated from B-lymphocytes of both groups. Xenografts in severe combined immune deficient mice were used to examine the toxicity and anti CLL activity of acacetin. We evaluated and compared the mechanism of action of acacetin on CLL and healthy B-lymphocytes and their mitochondria...
October 25, 2016: Nutrition and Cancer
https://www.readbyqxmd.com/read/27755185/anticytokine-autoantibodies-in-infection-and-inflammation-an-update
#13
Gabriela Barcenas-Morales, Peter Jandus, Rainer Döffinger
PURPOSE OF REVIEW: Concise overview of the field of anticytokine autoantibodies with a focus on recent developments. RECENT FINDINGS: Advances in particular in the analysis of autoantibodies to IFNγ, granulocyte-macrophage colony-stimulating factor (GM-CSF) and type I IFN are presented. The target epitope for anti-IFNγ autoantibodies has been found to have high homology to a protein from Aspergillus suggesting molecular mimicry as a mechanism of breaking self-tolerance...
December 2016: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27750381/molecular-heterogeneity-of-non-small-cell-lung-carcinoma-patient-derived-xenografts-closely-reflect-their-primary-tumors
#14
Dennis Wang, Nhu-An Pham, Jiefei Tong, Shingo Sakashita, Ghassan Allo, Lucia Kim, Naoki Yanagawa, Vibha Raghavan, Yuhong Wei, Christine To, Quang M Trinh, Maud H W Starmans, Michelle A Chan-Seng-Yue, Dianne Chadwick, Lei Li, Chang-Qi Zhu, Ni Liu, Ming Li, Sharon Lee, Vladimir Ignatchenko, Dan Strumpf, Paul Taylor, Nadeem Moghal, Geoffrey Liu, Paul C Boutros, Thomas Kislinger, Melania Pintilie, Igor Jurisica, Frances A Shepherd, John D McPherson, Lakshmi Muthuswamy, Michael F Moran, Ming-Sound Tsao
Availability of lung cancer models that closely mimic human tumors remains a significant gap in cancer research, as tumor cell lines and mouse models may not recapitulate the spectrum of lung cancer heterogeneity seen in patients. We aimed to establish a patient-derived tumor xenograft (PDX) resource from surgically resected non-small cell lung cancer (NSCLC). Fresh tumor tissue from surgical resection was implanted and grown in the subcutaneous pocket of non-obese severe combined immune deficient (NOD SCID) gamma mice...
October 17, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27717373/dna-ligase-iv-syndrome-a-review
#15
Thomas Altmann, Andrew R Gennery
DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic features. DNA ligase IV is part of the non-homologous end joining mechanism, required to repair DNA double stranded breaks. Ubiquitously expressed, it is required to prevent mutagenesis and apoptosis, which can result from DNA double strand breakage caused by intracellular events such as DNA replication and meiosis or extracellular events including damage by reactive oxygen species and ionising radiation...
October 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27707659/precision-molecular-diagnosis-defines-specific-therapy-in-combined-immunodeficiency-with-megaloblastic-anemia-secondary-to-mthfd1-deficiency
#16
Kesava A Ramakrishnan, Reuben J Pengelly, Yifang Gao, Mary Morgan, Sanjay V Patel, E Graham Davies, Sarah Ennis, Saul N Faust, Anthony P Williams
BACKGROUND: Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency. OBJECTIVE: To describe our investigative approach to the molecular diagnosis and evaluation of immune dysfunction in a family with MTHFD1 deficiency. METHODS: The methods used were exome sequencing and analysis of variants in genes involved in the folate metabolic pathway in a family with 2 affected siblings...
October 1, 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27701733/antigen-presentation-by-b-cells-guides-programing-of-memory-cd4-t-cell-responses-to-a-tlr4-agonist-containing-vaccine-in-mice
#17
Natasha Dubois Cauwelaert, Susan L Baldwin, Mark T Orr, Anthony L Desbien, Emily Gage, Kimberly A Hofmeyer, Rhea N Coler
The contribution of B cells to immunity against many infectious diseases is unquestionably important and well characterized. Here, we sought to determine the role of B cells in the induction of T-helper 1 (TH 1) CD4(+) T cells upon vaccination with a tuberculosis (TB) antigen combined with a TLR4 agonist. We used B-cell deficient mice (μMT(-/-) ), tetramer-positive CD4(+) T cells, markers of memory "precursor" effector cells (MPECs), and T-cell adoptive transfers and demonstrated that the early antigen-specific cytokine-producing TH 1 responses are unaffected in the absence of B cells, however MPEC induction is strongly impaired resulting in a deficiency of the memory TH 1 response in μMT(-/-) mice...
October 4, 2016: European Journal of Immunology
https://www.readbyqxmd.com/read/27699073/early-diagnosis-and-hematopoietic-stem-cell-transplantation-for-il10r-deficiency-leading-to-very-early-onset-inflammatory-bowel-disease-are-essential-in-familial-cases
#18
Neslihan Edeer Karaca, Guzide Aksu, Ezgi Ulusoy, Serap Aksoylar, Salih Gozmen, Ferah Genel, Sanem Akarcan, Nesrin Gulez, Tatjana Hirschmugl, Savas Kansoy, Kaan Boztug, Necil Kutukculer
Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies...
2016: Case Reports in Immunology
https://www.readbyqxmd.com/read/27694630/deciphering-systemic-lupus-erythematosus-associated-serum-biomarkers-reflecting-apoptosis-and-disease-activity
#19
P Delfani, G Sturfelt, B Gullstrand, A Carlsson, M Kassandra, C A K Borrebaeck, A A Bengtsson, C Wingren
Systemic lupus erythematosus (SLE) is a severe chronic inflammatory autoimmune connective tissue disease. Despite major efforts, SLE remains a poorly understood disease with unpredictable course, unknown etiology and complex pathogenesis. Apoptosis combined with deficiency in clearing apoptotic cells is an important etiopathogenic event in SLE, which could contribute to the increased load of potential autoantigen(s); however, the lack of disease-specific protein signatures deciphering SLE and the underlying biological processes is striking and represents a key limitation...
September 30, 2016: Lupus
https://www.readbyqxmd.com/read/27658761/a-prospective-study-on-the-natural-history-of-patients-with-profound-combined-immunodeficiency-p-cid-an-interim-analysis
#20
Carsten Speckmann, Sam Doerken, Alessandro Aiuti, Michael H Albert, Waleed Al-Herz, Luis M Allende, Allessia Scarselli, Tadej Avcin, Ruy Perez-Becker, Caterina Cancrini, Andrew Cant, Silvia Di Cesare, Andrea Finocchi, Alain Fischer, H Bobby Gaspar, Sujal Ghosh, Andrew Gennery, Kimberly Gilmour, Luis I González-Granado, Monica Martinez-Gallo, Sophie Hambleton, Fabian Hauck, Manfred Hoenig, Despina Moshous, Benedicte Neven, Tim Niehues, Luigi Notarangelo, Capucine Picard, Nikolaus Rieber, Ansgar Schulz, Klaus Schwarz, Markus G Seidel, Pere Soler-Palacin, Polina Stepensky, Brigitte Strahm, Thomas Vraetz, Klaus Warnatz, Christine Winterhalter, Austen Worth, Sebastian Fuchs, Annette Uhlmann, Stephan Ehl
BACKGROUND: Absent T cell immunity resulting in life-threatening infections provides a clear rationale for hematopoetic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID). Combined immunodeficiencies (CID) and "atypical" SCID show reduced, not absent T-cell immunity. If associated with infections or autoimmunity, they represent profound CID (P-CID), for which outcome data are insufficient for unambiguous early transplant decisions. OBJECTIVES: We recruit non-transplanted P-CID patients aged 1-16 years to compare natural histories of severity-matched patients with/without subsequent transplantation and to determine whether immunological and/or clinical parameters may be predictive for outcome...
September 19, 2016: Journal of Allergy and Clinical Immunology
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