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https://www.readbyqxmd.com/read/29325543/persistent-mammalian-orthoreovirus-coxsackievirus-and-adenovirus-co-infection-in-a-child-with-a-primary-immunodeficiency-detected-by-metagenomic-sequencing-a-case-report
#1
Dagmara W Lewandowska, Riccarda Capaul, Seraina Prader, Osvaldo Zagordi, Fabienne-Desirée Geissberger, Martin Kügler, Marcus Knorr, Christoph Berger, Tayfun Güngör, Janine Reichenbach, Cyril Shah, Jürg Böni, Andrea Zbinden, Alexandra Trkola, Jana Pachlopnik Schmid, Michael Huber
BACKGROUND: We report a rare case of Mammalian orthoreovirus (MRV) infection in a child with a primary immunodeficiency (PID). Infections with Mammalian orthoreovirus are very rare and probably of zoonotic origin. Only a few cases have been described so far, including one with similar pathogenesis as in our case. CASE PRESENTATION: The patient, age 11, presented with flu-like symptoms and persistent severe diarrhea. Enterovirus has been detected over several months, however, exact typing of a positive cell culture remained inconclusive...
January 11, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29310365/ebv-lymphoproliferative-associated-disease-and-primary-cardiac-t-cell-lymphoma-in-a-stk4-deficient-patient-a-case-report
#2
Roya Sherkat, Mohammad Reza Sabri, Bahar Dehghan, Hamid Bigdelian, Nahid Reisi, Nooshin Afsharmoghadam, Hamid Rahimi, Narges Rahmanian, Cristoph Klein
RATIONALE: Primary cardiac lymphoma (PLC) is an extremely uncommon malignancy. PCL is more common in secondary immunodeficient patients. In this report, we describe a unique case of PLC who had been diagnosed as a STK4 deficient patient. This case is the first Primary immunodeficiency (PID) patient developing PCL in the world. PATIENT CONCERNS: An eleven-year-old girl, a known case of PID, was referred to the pediatric cardiology department because of chest pain and dyspnea...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29307028/exercise-perception-and-behaviors-in-individuals-living-with-primary-immunodeficiency-disease
#3
Kerri L Sowers, Bini A Litwin, Alan C W Lee, Mary Lou A Galantino
BACKGROUND: Routine exercise has been established as an effective way to improve overall health. The value of exercise has been established in many diseases, however, there are no studies investigating the impact of exercise for individuals with primary immunodeficiency disease (PID). The purpose of this study was to investigate exercise perceptions and behaviors in individuals diagnosed with PID. METHODS: An online survey was distributed over a four-week period...
January 6, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29306672/the-bronchiectasis-severity-index-and-faced-score-for-assessment-of-the-severity-of-bronchiectasis
#4
J C Costa, J N Machado, C Ferreira, J Gama, C Rodrigues
INTRODUCTION: Bronchiectasis (BC) is a multidimensional and etiologically diverse disease and, therefore, no single parameter can be used to determine its overall severity and prognosis. In this regard, two different validated scores are currently used to assess the severity of non-cystic fibrosis bronchiectasis (NCFB): the FACED score and the Bronchiectasis Severity Index (BSI). OBJECTIVE: To describe the etiology of NCFB and compare the results of the assessment of NCFB severity obtained via FACED and BSI scores...
January 3, 2018: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/29306654/humoral-immune-response-to-measles-and-varicella-vaccination-in-former-very-low-birth-weight-preterm-infants
#5
Carolina Schlindwein Mariano Ferreira, Maria Cristina Abrão Aued Perin, Maria Isabel de Moraes-Pinto, Raquel Maria Simão-Gurge, Ana Lucia Goulart, Lily Yin Weckx, Amélia Miyashiro Nunes Dos Santos
INTRODUCTION: Immune response to vaccination in infants born prematurely may be lower than in infants born at full-term. Some clinical factors might be associated with humoral immune response. OBJECTIVES: The objectives of this study were to compare the immune response to measles and varicella vaccination in infants born prematurely with those born at full-term and to analyze factors associated with measles and varicella antibody levels. METHODS: Prospective study including two groups of infants aged 12 months...
January 4, 2018: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29300535/hematopoietic-cell-transplantation-in-primary-immunodeficiency-conventional-and-emerging-indications
#6
Mary A Slatter, Andrew R Gennery
Haematopoietic stem cell transplantation (HSCT) is an established curative treatment for many primary immunodeficiencies. Advances in donor selection, graft manipulation, conditioning and treatment of complications, mean that survival for many conditions is now around 90%. Next generation sequencing is identifying new immunodeficiencies, many of which are treatable with HSCT. Challenges remain however with short and long-term sequalae. This article reviews latest developments in HSCT for conventional primary immunodeficiencies and presents data on outcome for emerging diseases, Areas covered: This article reviews recently published literature detailing advances, particularly in conditioning regimens and new methods of T-lymphocyte depletion, as well as new information regarding approach and out come of transplanting patients with conventional primary immunodeficiencies...
January 4, 2018: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29297925/genterapi-%C3%A2-fr%C3%A3-n-id%C3%A3-till-verklighet-%C3%A3-nnu-har-f%C3%A3-patienter-behandlats-och-preparaten-%C3%A3-r-ofta-mycket-dyra-%C3%A2-men-utvecklingen-g%C3%A3-r-fort-nu
#7
Edvard Smith, Pontus Blomberg
Gene therapy - from idea to reality Gene therapy was originally proposed 45 years ago, but it is only during the last 5-10 years that significant clinical benefit has been demonstrated. Gene therapy is in most cases in the form of engineered viruses carrying a therapeutic gene. Examples of successfully treated disorders are primary immunodeficiencies and hemophilias. In some cases, gene therapy consists of genetically modified cells, such as when chimeric antigen receptors are stably introduced into T lymphocytes, and used as tumor therapy, mainly for leukemias...
December 19, 2017: Läkartidningen
https://www.readbyqxmd.com/read/29288077/update-vaccines-in-primary-immunodeficiency
#8
Francisco A Bonilla
Vaccines were originally developed in order to prevent or ameliorate infectious disease. As knowledge of immune function and the appreciation of immunodeficiency has developed, researchers have used vaccine responses as a tool to characterize the phenotypes of patients exhibiting various syndromes. Thus, it has become possible for a clinician to evaluate individual responses to vaccines in order to interrogate the immunocompetence of their patients. Although there have been many advances in these areas, we still have much to learn about the quantity and quality of humoral and cellular vaccine responses in normal and immunodeficient individuals and how that knowledge may then be extrapolated to diagnostic purposes...
December 26, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29280519/subcutaneous-immunoglobulin-for-the-treatment-of-deep-morphoea-in-a-child
#9
M A Yamazaki-Nakashimada, M Saez-de-Ocariz, G Maldonado-Colin, M T García-Romero
Morphoea, also known as localized scleroderma, is a disorder characterized by excessive collagen deposition leading to thickening of the dermis and/or subcutaneous tissues. Intravenous IgG therapy has induced improvement in some fibrotic conditions. The primary indication for subcutaneous IgG (SCIG) is in primary immunodeficiency disorders as replacement therapy; however, recently there has been considerable interest in SCIG as an immunomodulatory agent. We report an 11-year-old girl with deep morphoea who was successfully treated with SCIG...
December 27, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29279357/successful-outcome-following-allogeneic-hematopoietic-stem-cell-transplantation-in-adults-with-primary-immunodeficiency
#10
Thomas A Fox, Ronjon Chakraverty, Siobhan Burns, Benjamin Carpenter, Kirsty Thomson, David Lowe, Adele Fielding, Karl Peggs, Panagiotis Kottaridis, Benjamin Uttenthal, Venetia Bigley, Matthew Buckland, Victoria Grandage, Shari Denovan, Sarah Grace, Julia Dahlstrom, Sarita Workman, Andrew Symes, Stephen Mackinnon, Rachael Hough, Emma Morris
INTRODUCTION: The primary immunodeficiencies (PID), rare inherited diseases characterised by severe dysfunction of immunity have been successfully treated by allogeneic hematopoietic stem cell transplantation (Allo-HSCT) in childhood. Controversy exists regarding optimal timing and use of Allo-HSCT in adults, due to lack of experience and previous poor outcomes. MATERIALS AND METHODS: 29 consecutive adult patients, with a mean age at transplant of 24 years (range 17-50) underwent Allo-HSCT...
December 26, 2017: Blood
https://www.readbyqxmd.com/read/29276577/are-circulating-type-2-vaccine-derived-polioviruses-vdpvs-genetically-distinguishable-from-immunodeficiency-associated-vdpvs
#11
Kun Zhao, Jaume Jorba, Jing Shaw, Jane Iber, Qi Chen, Kelley Bullard, Olen M Kew, Cara C Burns
Public health response to vaccine-derived poliovirus (VDPV) that is transmitted from person to person (circulating VDPV [cVDPV]) differs significantly from response to virus that replicates in individuals with primary immunodeficiency (immunodeficiency-associated VDPV [iVDPV]). cVDPV outbreaks require a community immunization response, whereas iVDPV chronic infections require careful patient monitoring and appropriate individual treatment. To support poliovirus outbreak response, particularly for type 2 VDPV, we investigated the genetic distinctions between cVDPV2 and iVDPV2 sequences...
2017: Computational and Structural Biotechnology Journal
https://www.readbyqxmd.com/read/29274825/should-antibiotic-prophylaxis-be-routinely-used-in-patients-with-antibody-mediated-primary-immunodeficiency
#12
REVIEW
Mark Ballow, Kenneth Paris, Maite de la Morena
No abstract text is available yet for this article.
December 21, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29249107/-common-immunodeficiency-variable-in-adults
#13
Patricia María O'Farrill-Romanillos, Diana Andrea Herrera-Sánchez, Cecilia Hernández-Fernández, Eunice Giselle López-Rocha
Primary immunodeficiencies (PIDs) are low-incidence diseases caused by defects in genes involved in the development, maintenance, and regulation of the immune system. Common variable immunodeficiency (CVID) is the most common symptomatic immunodeficiency of adulthood. It has an approximate prevalence of 1 in 25 000-50 000 in the general population, with a delay in diagnosis between 6-7 years. The clinical manifestations of CVID constitute six main categories: infections, pulmonary complications, granulomatous or polyclonal lymphocytic disease, autoimmunity, gastrointestinal diseases and malignancy Most patients must have at least one of the following clinical manifestations (infection, autoimmunity, lymphoproliferation)...
October 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29233822/hematopoietic-stem-cell-gene-therapy-for-ifn%C3%AE-r1-deficiency-protects-mice-from-mycobacterial-infections
#14
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
#15
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
#16
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/29226302/international-union-of-immunological-societies-2017-primary-immunodeficiency-diseases-committee-report-on-inborn-errors-of-immunity
#17
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
#18
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...
January 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29225858/fatal-ctla-4-heterozygosity-with-autoimmunity-and-recurrent-infections-a-de-novo-mutation
#19
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
#20
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
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