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primary immunodeficiencies

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https://www.readbyqxmd.com/read/29233822/hematopoietic-stem-cell-gene-therapy-for-ifn%C3%AE-r1-deficiency-protects-mice-from-mycobacterial-infections
#1
Miriam Hetzel, Adele Mucci, Patrick Blank, Ariane Hai Ha Nguyen, Jan Schiller, Olga Halle, Mark-Philipp Kühnel, Sandra Billig, Robert Meineke, Daniel Brand, Vanessa Herder, Wolfgang Baumgärtner, Franz-Christoph Bange, Ralph Goethe, Danny Jonigk, Reinhold Förster, Bernhard Gentner, Jean-Laurent Casanova, Jacinta Bustamante, Axel Schambach, Ulrich Kalinke, Nico Lachmann
Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare primary immunodeficiency, characterized by severe infections caused by weakly virulent mycobacteria. Bi-allelic null mutations in genes encoding interferon gamma (IFNγ) receptor 1 or -2 (IFNGR1, IFNGR2) result in a life-threatening disease phenotype in early childhood. Recombinant IFNγ therapy is inefficient and hematopoietic stem cell transplantation (HSCT) has a poor prognosis. Thus, we developed a HSC gene therapy approach using lentiviral vectors expressing Ifnγr1 either constitutively or myeloid-specifically...
December 12, 2017: Blood
https://www.readbyqxmd.com/read/29230214/exome-sequencing-identifies-a-novel-map3k14-mutation-in-recessive-atypical-combined-immunodeficiency
#2
Nikola Schlechter, Brigitte Glanzmann, Eileen Garner Hoal, Mardelle Schoeman, Britt-Sabina Petersen, Andre Franke, Yu-Lung Lau, Michael Urban, Paul David van Helden, Monika Maria Esser, Marlo Möller, Craig Kinnear
Primary immunodeficiency disorders (PIDs) render patients vulnerable to infection with a wide range of microorganisms and thus provide good in vivo models for the assessment of immune responses during infectious challenges. Priming of the immune system, especially in infancy, depends on different environmental exposures and medical practices. This may determine the timing and phenotype of clinical appearance of immune deficits as exemplified with early exposure to Bacillus Calmette-Guérin (BCG) vaccination and dissemination in combined immunodeficiencies...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29229549/what-do-primary-immunodeficiencies-tell-us-about-the-essentiality-redundancy-of-immune-responses
#3
REVIEW
Alain Fischer, Antonio Rausell
Advances in genomics and medicine have enabled the identification of (currently) 346 primary immunodeficiencies (PIDs) caused by mutations in 336 different genes. Most of these PIDs are monogenic conditions with Mendelian inheritance. Given this large number, it is possible to analyze the distribution of PIDs associated with infections and/or immunopathology according to the nature of the defect - even though this exercise can be challenging and arguable because of the pleiotropic nature of some gene products...
December 8, 2017: Seminars in Immunology
https://www.readbyqxmd.com/read/29228918/nevirapine-versus-efavirenz-based-antiretroviral-therapy-regimens-in-antiretroviral-naive-patients-with-hiv-and-tuberculosis-infections-in-india-a-multi-centre-study
#4
Sanjeev Sinha, Kartik Gupta, Srikanth Tripathy, Sahajal Dhooria, Sanjay Ranjan, R M Pandey
BACKGROUND: According to World Health Organization (WHO) guidelines, which have also been adopted by the National AIDS Control Organization (NACO), India, Efavirenz-based Anti-Retroviral Therapy (ART) is better in Human-Immunodeficiency-Virus (HIV)-infected patients who are also being treated with Rifampicin-based Anti-Tuberculous Therapy (ATT). However, Efavirenz is much more expensive. We hypothesize that Nevirapine is a cheaper alternative that possesses equal efficacy as Efavirenz in HIV-Tuberculosis (TB) co-infected patients...
December 11, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29228703/dual-inhibition-of-brd4-and-pi3k-akt-by-sf2523-suppresses-human-renal-cell-carcinoma-cell-growth
#5
Hua Zhu, Jia-Hui Mao, Yin Wang, Dong-Hua Gu, Xiao-Dong Pan, Yuxi Shan, Bing Zheng
Bromodomain-containing protein 4 (BRD4) and PI3K-AKT are both important for renal cell carcinoma (RCC) development and progression. SF2523 is a BRD4 and PI3K-AKT dual inhibitor. The present study demonstrated that SF2523 was cytotoxic and anti-proliferative to established RCC cell lines (786-O and A498) and primary human RCC cells. SF2523 induced activation of caspase and apoptosis in RCC cells. Further, SF2523 disrupted RCC cell cycle progression and inhibited cell migration in vitro. At the signaling level, SF2523 in-activated PI3K-AKT-mTOR, and downregulated BRD4-dependent proteins, Bcl-2 and Myc, in RCC cells...
November 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29227177/immunogenicity-and-safety-of-inactivated-chromatographically-purified-vero-cell-derived-japanese-encephalitis-vaccine-in-thai-children
#6
Pornthep Chanthavanich, Kriengsak Limkittikul, Chukiat Sirivichayakul, Watcharee Chokejindachai, Weerawan Hattasingh, Krisana Pengsaa, Surachai Surangsrirat, Termsang Srisuwannaporn, Benjawan Kaewma, Sutee Yoksan, Gao Jun, Bai Zhumu
Inactivated mouse-brain-derived Japanese encephalitis vaccine has a worrisome safety profile and the live attenuated vaccine is unsuitable in immunodeficiency. This study aimed to evaluate the immunogenicity and safety of an inactivated chromatographically purified Vero-cell-derived JE vaccine (CVI-JE, Beijing P-3 strain) in children. 152 healthy Thai children, with an average (SD) age of 14.4 (3.8) months, received 3 doses of CVI-JE on days 0, 7-28, and one year. Homologous JE neutralizing antibody titers (NT) were measured...
December 11, 2017: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/29226302/international-union-of-immunological-societies-2017-primary-immunodeficiency-diseases-committee-report-on-inborn-errors-of-immunity
#7
Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Kathleen E Sullivan
Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee. The current report details the categorization and listing of 354 (as of February 2017) inborn errors of immunity. The growth and increasing complexity of the field have been impressive, encompassing an increasing variety of conditions, and the classification described here will serve as a critical reference for immunologists and researchers worldwide...
December 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29226301/the-2017-iuis-phenotypic-classification-for-primary-immunodeficiencies
#8
Aziz Bousfiha, Leïla Jeddane, Capucine Picard, Fatima Ailal, H Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation...
December 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29225977/double-morphology-tertiary-syphilis-and-acquired-immunodeficiency-syndrome-a-rare-association
#9
R M Ngwanya, B Kakande, N P Khumalo
Background: Human immunodeficiency virus (HIV) and Treponema pallidum coinfection is relatively common and accounts for about 25% of primary and secondary syphilis. Tertiary syphilis in HIV-uninfected and HIV-infected patients is vanishingly rare. This is most likely due to early treatment of cases of primary and secondary syphilis. There is rapid progression to tertiary syphilis in HIV-infected patients. Case Presentation: A 49-year-old woman diagnosed with HIV Type 1 infection and cluster of differentiation 4 (CD4) count of 482 presented with a four-week history of multiple crusted plaques, nodules, and ulcers on her face, arms, and abdomen...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/29225858/fatal-ctla-4-heterozygosity-with-autoimmunity-and-recurrent-infections-a-de-novo-mutation
#10
Maria Francisca Moraes-Fontes, Amy P Hsu, Iris Caramalho, Catarina Martins, Ana Carolina Araújo, Filipa Lourenço, Anna V Taulaigo, Ana Lladó, Steven M Holland, Gulbu Uzel
Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29225631/initial-intravenous-immunoglobulin-doses-should-be-based-on-adjusted-body-weight-in-obese-patients-with-primary-immunodeficiency-disorders
#11
Rohan Ameratunga
Background: Immunoglobulin therapy plays a critical role in the treatment of immunodeficiency disorders as well as autoimmune and inflammatory conditions. In immunodeficient patients, there has been controversy whether initial loading doses of intravenous (IVIG) should be based on actual body weight or a calculated parameter such as adjusted body weight in obese patients. Case presentation: I describe a patient with Common Variable Immunodeficiency disorder (CVID) who underwent bariatric surgery for morbid obesity...
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/29225606/epstein-barr-virus-specific-immune-control-by-innate-lymphocytes
#12
REVIEW
Christian Münz
Epstein-Barr virus (EBV) is a potent B cell transforming pathogen in humans. In most persistently EBV-infected individuals, potent cytotoxic lymphocyte responses prevent EBV-associated pathologies. In addition to comprehensive adaptive T cell responses, several innate lymphocyte populations seem to target different stages of EBV infection and are compromised in primary immunodeficiencies that render individuals susceptible to symptomatic EBV infection. In this mini-review, I will highlight the functions of natural killer, γδ T cells, and natural killer T cells during innate immune responses to EBV...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29216507/chimeric-hcmv-hsv-1-and-%C3%AE-%C3%AE-134-5-oncolytic-herpes-simplex-virus-elicit-immune-mediated-antigliomal-effect-and-antitumor-memory
#13
Mohammed G Ghonime, Josh Jackson, Amish Shah, Justin Roth, Mao Li, Ute Saunders, Jennifer Coleman, G Yancey Gillespie, James M Markert, Kevin A Cassady
Malignant gliomas are the most common primary brain tumor and are characterized by rapid and highly invasive growth. Because of their poor prognosis, new therapeutic strategies are needed. Oncolytic virotherapy (OV) is a promising strategy for treating cancer that incorporates both direct viral replication mediated and immune mediated mechanisms to kill tumor cells. C134 is a next generation Δγ134.5 oHSV-1 with improved intratumoral viral replication. It remains safe in the CNS environment by inducing early IFN signaling which restricts its replication in non-malignant cells...
December 4, 2017: Translational Oncology
https://www.readbyqxmd.com/read/29215267/new-structural-insights-into-formation-of-the-key-actin-regulating-wip-wasp-complex-determined-by-nmr-and-molecular-imaging
#14
Adi Halle-Bikovski, Sophia Fried, Eva Rozentur-Shkop, Guy Biber, Hadassa Shaked, Noah Joseph, Mira Barda-Saad, Jordan H Chill
Wiskott-Aldrich syndrome protein (WASp) is exclusively expressed in hematopoietic cells and responsible for actin-dependent processes, including cellular activation, migration, and invasiveness. The C-terminal domain of WASp-Interacting Protein (WIP) binds to WASp and regulates its activity by shielding it from degradation in a phosphorylation dependent manner as we previously demonstrated. Mutations in the WAS-encoding gene lead to the primary immunodeficiencies Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT)...
December 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/29212182/oncogenic-p95her2-611ctf-primes-human-breast-epithelial-cells-for-metabolic-stress-induced-down-regulation-of-flip-and-activation-of-trail-r-caspase-8-dependent-apoptosis
#15
Rosa Martín-Pérez, Rosario Yerbes, Rocío Mora-Molina, Ana Cano-González, Joaquín Arribas, Massimiliano Mazzone, Abelardo López-Rivas, Carmen Palacios
Oncogenic transformation triggers reprogramming of cell metabolism, as part of the tumorigenic process. However, metabolic reprogramming may also increase the sensitivity of transformed cells to microenvironmental stress, at the early stages of tumor development. Herein, we show that transformation of human breast epithelial cells by the p95HER2/611CTF oncogene markedly sensitizes these cells to metabolic stress induced by the simultaneous inhibition of glucose and glutamine metabolism. In p95HER2/611CTF-transformed cells, metabolic stress activates a TNF related apoptosis-inducing ligand (TRAIL)-R and caspase-8-dependent apoptotic process that requires prior down-regulation of cellular FLICE-like inhibitor protein (c-FLIP) levels...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29210076/in-vitro-effect-of-antiretroviral-drugs-on-cultured-primary-astrocytes-analysis-of-neurotoxicity-and-matrix-metalloproteinase-inhibition
#16
Tiziana Latronico, Ilaria Pati, Rossana Ciavarella, Anna Fasano, Fabio Mengoni, Miriam Lichtner, Vincenzo Vullo, Claudio Maria Mastroianni, Grazia Maria Liuzzi
There is little information available on the possible toxic effects that antiretroviral (ARV) drugs used for the treatment of human immunodeficiency virus (HIV)-infected subjects, may have on the central nervous system (CNS) resident cells. Moreover, it is unclear whether the efficacy of the ARV drugs may also be due to their ability to exert extravirological effects on factors responsible for the development of HIV brain injury, e.g. matrix metalloproteinases (MMPs). This study investigates the toxicity of three different ARV drugs and on their ability to modulate levels and expression of gelatinases A (MMP-2) and B (MMP-9) in astrocytes...
December 6, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29209121/fatal-gastrointestinal-histoplasmosis-15-years-after-orthotopic-liver-transplantation
#17
Nikita Agrawal, David Ej Jones, Jessica K Dyson, Tim Hoare, Sharon A Melmore, Stephanie Needham, Nick P Thompson
We report a case of ileo-colonic Histoplasmosis without apparent respiratory involvement in a patient who had previously undergone an orthotopic liver transplant (OLT) for primary biliary cholangitis 15 years earlier. The recipient lived in the United Kingdom, a non-endemic region for Histoplasmosis. However, she had previously lived in rural southern Africa prior to her OLT. The patient presented with iron deficiency anaemia, diarrhoea, abdominal pain and progressive weight loss. She reported no previous foreign travel, however, it later became known that following her OLT she had been on holiday to rural southern Africa...
November 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29204910/who-is-the-patient-at-risk-of-cmv-recurrence-a-review-of-the-current-scientific-evidence-with-a-focus-on-hematopoietic-cell-transplantation
#18
REVIEW
Jan Styczynski
Cytomegalovirus (CMV) is an agent of global infection, and its acquisition in a population is characterized by an age-dependent rise in seropositivity. After primary infection, CMV remains in the host cells in latent form, and it can reactivate in the case of immune suppression. The risk of CMV recurrence is dependent on the level of incompetency of the immune system, manifested as an impairment of T-cell immunity, including the presence and function of CMV-specific cytotoxic T lymphocytes. This article presents data on the incidence of CMV recurrence in groups of immunocompromised patients, including allogeneic hematopoietic stem cell transplantation (HSCT) patients and other groups of patients, based on a summary of reported data...
December 4, 2017: Infectious Diseases and Therapy
https://www.readbyqxmd.com/read/29204384/approach-to-a-child-with-primary-immunodeficiency-made-simple
#19
REVIEW
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29202190/lack-of-truncated-ifitm3-transcripts-in-cells-homozygous-for-the-rs12252-c-variant-that-is-associated-with-severe-influenza-infection
#20
Shokouh Makvandi-Nejad, Henry Laurenson-Schafer, LiLi Wang, Dannielle Wellington, Yan Zhao, Boquan Jin, Ling Qin, Kerry Kite, Hooman K Moghadam, Chaojun Song, Kevin Clark, Philip Hublitz, Alain R Townsend, Hao Wu, Andrew J McMichael, YongHong Zhang, Tao Dong
Interferon-induced transmembrane 3 (IFITM3) is known to restrict the entry of a range of enveloped viruses. The single nucleotide polymorphism rs12252-C within IFITM3 has been shown to be associated with severe influenza A virus infection. It has been suggested that rs12252-C results in expression of a truncated IFITM3 protein lacking the first 21 amino acids. By performing high-throughput RNA sequencing on primary dendritic cells and peripheral blood mononuclear cells isolated from pandemic H1N1 influenza and human immunodeficiency virus-1 (HIV-1) infected patients we show that full-length IFITM3 mRNA is dominantly expressed (>99%) across all rs12252 genotypes...
November 30, 2017: Journal of Infectious Diseases
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