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Primary immune deficiency

Giuliana Giardino, Vera Gallo, Rosaria Prencipe, Giovanni Gaudino, Roberta Romano, Marco De Cataldis, Paola Lorello, Loredana Palamaro, Chiara Di Giacomo, Donatella Capalbo, Emilia Cirillo, Roberta D'Assante, Claudio Pignata
Increased risk of developing autoimmune manifestations has been identified in different primary immunodeficiencies (PIDs). In such conditions, autoimmunity and immune deficiency represent intertwined phenomena that reflect inadequate immune function. Autoimmunity in PIDs may be caused by different mechanisms, including defects of tolerance to self-antigens and persistent stimulation as a result of the inability to eradicate antigens. This general immune dysregulation leads to compensatory and exaggerated chronic inflammatory responses that lead to tissue damage and autoimmunity...
2016: Frontiers in Pediatrics
D Bogdanou, M Penna-Martinez, N Filmann, T L Chung, Y Moran-Auth, J Wehrle, C Cappel, S Huenecke, E Herrmann, U Koehl, K Badenhoop
BACKGROUND: Type 1 diabetes mellitus (T1D) is mediated by autoaggressive T effector cells with an underlying regulatory T cell (Treg) defect. Vitamin D (VD) deficiency is highly prevalent in T1D which can aggravate immune dysfunction. High dose VD treatment may enhance Tregs and improve metabolism in T1D patients. METHODS: In a randomized, double-blind, placebo-controlled trial with cross-over design, patients received either for three months cholecalciferol 4000 IU/d, followed by three months placebo or the sequential alternative...
October 20, 2016: Diabetes/metabolism Research and Reviews
Hui Han, Jinzhou Zhu, Yaqiong Wang, Zhengbin Zhu, Yanjia Chen, Lin Lu, Wei Jin, Xiaoxiang Yan, Ruiyan Zhang
Renal fibrosis is a significant threat to public health globally. Diverse primary aetiologies eventually result in chronic kidney disease (CKD) and immune cells influence this process. The roles of monocytes/macrophages, T cells and mast cells have been carefully examined, whilst only a few studies have focused on the effect of B cells. We investigated B cell function in tubulointerstitial fibrosis induced by unilateral ureteral obstruction (UUO), using genetic B cell-deficient μMT mice or CD20 antibody-mediated B cell depleted mice...
October 20, 2016: Journal of Pathology
Amanda Faria Assoni, Giuliana Castello, Marcos Valadares, Melinda Beccari, Juliana Gomes, Mayra Pelatti, Miguel Mitne-Neto, Valdemir Melechco Carvalho, Mayana Zatz
Duchenne muscular dystrophy (DMD) is a lethal X-linked disorder caused by null mutations in the dystrophin gene. Although the primary defect is the deficiency of muscle dystrophin, secondary events, including chronic inflammation, fibrosis and muscle regeneration failure are thought to actively contribute to disease progression. Despite several advances, there is still no effective therapy for DMD. Therefore, the potential regenerative capacities, as well as immune-privileged properties of Mesenchymal Stromal Cells (MSCs), have been the focus of intense investigation in different animal models aiming the treatment of these disorders...
October 20, 2016: Stem Cells and Development
Maulik Vyas, Ann-Charlott Schneider, Olga Shatnyeva, Katrin S Reiners, Samir Tawadros, Stephan Kloess, Ulrike Köhl, Michael Hallek, Hinrich P Hansen, Elke Pogge von Strandmann
Chronic lymphocytic leukemia (CLL) is the most common form of leukemia that affects B lymphocytes in adults. Natural killer (NK) cells in CLL patients are intrinsically potent but display poor in situ effector functions. NKG2D is an activating receptor found on NK and CD8(+) T cells and plays a role in immunosurveillance of CLL. In this study, we developed mono- and dual-targeting triplebodies utilizing a natural ligand for human NKG2D receptor (ULBP2) to retarget NK cells against tumor cells. Triplebodies in both formats showed better ability to induce NK-cell-dependent killing of target cells compared to bispecific counterparts...
2016: Oncoimmunology
Michael T Schweizer, Heather H Cheng, Maria S Tretiakova, Funda Vakar-Lopez, Nola Klemfuss, Eric Q Konnick, Elahe A Mostaghel, Peter S Nelson, Evan Y Yu, R Bruce Montgomery, Lawrence D True, Colin C Pritchard
Precision oncology entails making treatment decisions based on a tumor's molecular characteristics. For prostate cancer, identifying clinically relevant molecular subgroups is challenging, as molecular profiling is not routine outside of academic centers. Since histologic variants of other cancers correlates with specific genomic alterations, we sought to determine if ductal adenocarcinoma of the prostate (dPC) - a rare and aggressive histopathologic variant - was associated with any recurrent actionable mutations...
October 15, 2016: Oncotarget
Stella Hartono, Amrita Bhagia, Avni Y Joshi
PURPOSE OF REVIEW: Norovirus infection is an emerging chronic infection in immunocompromised hosts. The aim of this review is to discuss the pathophysiology of Norovirus infection and explore mechanistic models for chronic infection/shedder state, especially in patients with immune deficiency diseases. RECENT FINDINGS: Chronic Norovirus infection is increasingly associated with enteropathy associated with both primary and secondary immune deficiency diseases. There is an ongoing debate in the immune deficiency community whether it is truly a causative agent for the enteropathy or it is an innocent bystander...
October 13, 2016: Current Opinion in Allergy and Clinical Immunology
Venetia Bigley, Dawn Barge, Matthew Collin
PURPOSE OF REVIEW: Dendritic cells are specialized antigen-presenting cells which link innate and adaptive immunity, through recognition and presentation of antigen to T cells. Although the importance of dendritic cells has been demonstrated in many animal models, their contribution to human immunity remains relatively unexplored in vivo.Given their central role in infection, autoimmunity, and malignancy, dendritic cell deficiency or dysfunction would be expected to have clinical consequences...
October 17, 2016: Current Opinion in Allergy and Clinical Immunology
Sudhir Gupta, Sudhanshu Agrawal, Sastry Gollapudi, Hiromi Kubagawa
IgMFcR (FcμR) are expressed on B cell and B cell subsets. Mice deficient in secreted IgM and FcμR share properties of impaired specific antibody response and autoimmunity with patient with selective IgM deficiency (SIGMD). Intravenous immunoglobulin (IGIV) regulates immune response, including modulation of IgGFc receptors. However, there are no data on the expression of FcμR in patients with SIGMD, and the effects of IGIV on FcμR. In this study, we investigated FcμR expression in naïve marginal zone (MZ), IgM memory, and class-switched memory B cells in patients with selective IgM deficiency and healthy controls...
October 14, 2016: Human Immunology
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
Yinyin Li, Yi Shen, Philipp Hohensinner, Jihang Ju, Zhenke Wen, Stuart B Goodman, Hui Zhang, Jörg J Goronzy, Cornelia M Weyand
Immune aging manifests with a combination of failing adaptive immunity and insufficiently restrained inflammation. In patients with rheumatoid arthritis (RA), T cell aging occurs prematurely, but the mechanisms involved and their contribution to tissue-destructive inflammation remain unclear. We found that RA CD4(+) T cells showed signs of aging during their primary immune responses and differentiated into tissue-invasive, proinflammatory effector cells. RA T cells had low expression of the double-strand-break repair nuclease MRE11A, leading to telomeric damage, juxtacentromeric heterochromatin unraveling, and senescence marker upregulation...
October 10, 2016: Immunity
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
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
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
Takeshi Nishimura, Susumu Mochizuki, Naoko Ishii-Minami, Yukiko Fujisawa, Yoshihiro Kawahara, Yuri Yoshida, Kazunori Okada, Sugihiro Ando, Hideo Matsumura, Ryohei Terauchi, Eiichi Minami, Yoko Nishizawa
Magnaporthe oryzae, the fungus causing rice blast disease, should contend with host innate immunity to develop invasive hyphae (IH) within living host cells. However, molecular strategies to establish the biotrophic interactions are largely unknown. Here, we report the biological function of a M. oryzae-specific gene, Required-for-Focal-BIC-Formation 1 (RBF1). RBF1 expression was induced in appressoria and IH only when the fungus was inoculated to living plant tissues. Long-term successive imaging of live cell fluorescence revealed that the expression of RBF1 was upregulated each time the fungus crossed a host cell wall...
October 2016: PLoS Pathogens
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
Angela R M Kurz, Monika Pruenster, Ina Rohwedder, Mahalakshmi Ramadass, Kerstin Schäfer, Ute Harrison, Gabriel Gouveia, Claudia Nussbaum, Roland Immler, Johannes R Wiessner, Andreas Margraf, Dae-Sik Lim, Barbara Walzog, Steffen Dietzel, Markus Moser, Christoph Klein, Dietmar Vestweber, Rainer Haas, Sergio D Catz, Markus Sperandio
Neutrophils need to penetrate the perivascular basement membrane for successful extravasation into inflamed tissue, but this process is incompletely understood. Recent findings have associated mammalian sterile 20-like kinase 1 (MST1) loss of function with a human primary immunodeficiency disorder, suggesting that MST1 may be involved in immune cell migration. Here, we have shown that MST1 is a critical regulator of neutrophil extravasation during inflammation. Mst1-deficient (Mst1-/-) neutrophils were unable to migrate into inflamed murine cremaster muscle venules, instead persisting between the endothelium and the basement membrane...
October 4, 2016: Journal of Clinical Investigation
Salem Al-Tamemi, Shafiq Ur Rehman Naseem, Nabila Al-Siyabi, Ibtisam El-Nour, Abdulhakim Al-Rawas, David Dennison
PURPOSE: Primary immunodeficiency (PID) diseases are rare, complex medical disorders that often are overlooked in clinical settings. There are emerging reports of PID from Middle Eastern populations. This study describes the features of PID patients in a tertiary care setting in Oman and compares them with regional and worldwide reports. METHOD: Sultan Qaboos University Hospital (SQUH) is an academic tertiary care-level hospital for specialized healthcare, including PID patients...
October 3, 2016: Journal of Clinical Immunology
M Teresa de la Morena, David Leonard, Troy R Torgerson, Otavio Cabral-Marques, Mary Slatter, Asghar Aghamohammadi, Sharat Chandra, Luis Murguia-Favela, Francisco Bonilla, Maria Kanariou, Rongras Damrongwatanasuk, Caroline Y Kuo, Christopher C Dvorak, Isabelle Meyts, Karin Chen, Lisa Kobrynski, Neena Kapoor, Darko Richter, Daniela DiGiovanni, Fatima Dhalla, Evangelia Farmaki, Carsten Speckmann, Teresa Espanol, Anna Shcherbina, Celine Hanson, Jiri Litzman, John Routes, Melanie Wong, Ramsay Fuleihan, Suranjith L Seneviratne, Trudy N Small, Ales Janda, Liliana Bezrodnik, Reinhard Seger, Andrea Gomez Raccio, J David M Edgar, Janet Chou, Jordan K Abbott, Joris van Montfrans, Luis Ignacio Gonzalez-Granado, Nancy Bunin, Necil Kutukculer, Paul Gray, Gisela Seminario, Srdjan Pasic, Victor Aquino, Christian Wysocki, Hassan Abolhassani, Eyal Grunebaum, Morna Dorsey, Beatriz Tavares Costa Carvalho, Antonio Condino-Neto, Charlotte Cunningham-Rundles, Alan P Knutsen, John Sleasman, Helen Chapel, Hans D Ochs, Alexandra Filipovich, Mort Cowan, Andrew Gennery, Andrew Cant, Luigi D Notarangelo, Chaim Roifman
BACKGROUND: X-linked hyper IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared to normal individuals. Hematopoietic cell transplant (HCT) has been considered a curative therapy, but the procedure has inherent complications, and may not be available for all patients. OBJECTIVES: We sought to collect data on the clinical presentation, treatment, and follow-up of a large sample of patients with XHIGM in order to (1) compare long-term overall survival and general well-being of patients treated with or without HCT along with clinical factors associated with mortality, and (2) summarize clinical practice and risk factors in the subgroup of patients treated with HCT...
September 30, 2016: Journal of Allergy and Clinical Immunology
Vincent Barlogis, Nizar Mahlaoui, Pascal Auquier, Isabelle Pellier, Fanny Fouyssac, Camille Vercasson, Maya Allouche, Carolina Brito De Azevedo, Felipe Suarez, Despina Moshous, Bénédicte Neven, Marlène Pasquet, Eric Jeziorski, Nathalie Aladjidi, Nicolas Schleinitz, Caroline Thomas, Virginie Gandemer, Françoise Mazingue, Patrick Lutz, Olivier Hermine, Capucine Picard, Stéphane Blanche, Gérard Michel, Alain Fischer
BACKGROUND: Most children with primary immune deficiency (PID) now reach adulthood. However, few studies have evaluated their health status and health related quality of life (HRQoL). OBJECTIVE: To investigate long-term morbidity, the French Reference Center for PIDs initiated a prospective multicenter cohort: the F-CILC (French Childhood Immune deficiency Long-term Cohort). The data collected was used to assess the physical health condition of patients who reached adulthood and the impact on their quality of life...
September 30, 2016: Journal of Allergy and Clinical Immunology
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