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"Primary immunodeficiency"

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https://www.readbyqxmd.com/read/28523402/advances-in-the-care-of-primary-immunodeficiencies-pids-from-birth-to-adulthood
#1
Nizar Mahlaoui, Klaus Warnatz, Alison Jones, Sarita Workman, Andrew Cant
Primary immunodeficiencies (PIDs) are a widely heterogeneous group of inherited defects of the immune system consisting of many clinical phenotypes with at least 300 underlying genetic deficits currently known. Patients with PIDs can present with, or develop during the course of their life, a susceptibility to recurrent and chronic infection along with autoimmune, allergic, inflammatory, and/or proliferative disorders, all potentially leading to end-organ damage. In recent years, a combination of basic and clinical research has greatly improved understanding of the underlying immunological and genetic defects in PIDs, leading to improved diagnosis, classification, and treatment approaches...
May 18, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28520701/another-subcutaneous-immune-globulin-cuvitru-for-primary-immunodeficiency
#2
(no author information available yet)
No abstract text is available yet for this article.
May 22, 2017: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/28515318/molecular-mechanism-of-activation-of-class-ia-phosphoinositide-3-kinases-pi3ks-by-membrane-localized-hras
#3
Braden D Siempelkamp, Manoj K Rathinaswamy, Meredith L Jenkins, John E Burke
Class IA PI3Ks are involved in the generation of the key lipid signaling molecule phosphatidylinositol 3,4,5-trisphosphate (PIP3), and inappropriate activation of this pathway is implicated in a multitude of human diseases, including cancer, inflammation, and primary immunodeficiencies. Class IA PI3Ks are activated downstream of the Ras superfamily of GTPases, and Ras-PI3K interaction plays a key role in promoting tumor formation and maintenance in Ras-driven tumors. Investigating the detailed molecular events in the Ras-PI3K interaction has been challenging because it occurs on a membrane surface...
May 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28513998/ibd-due-to-pid-inflammatory-bowel-disease-caused-by-primary-immunodeficiencies-clinical-presentations-review-of-literature-and-proposal-of-a-rational-diagnostic-algorithm
#4
REVIEW
Daniel Tegtmeyer, Maximilian Seidl, Patrick Gerner, Ulrich Baumann, Christian Klemann
Inflammatory bowel diseases (IBD) including Crohn's disease (CD) and ulcerative colitis (UC) have a multifactorial pathogenesis with complex interactions between polygenetic predispositions and environmental factors. However, IBD can also be caused by monogenic diseases, such as primary immunodeficiencies (PID). Recently, an increasing number of these altogether rare diseases has been described to present often primarily, or solely as IBD. Early recognition of these conditions enables adaption of therapies and thus directly benefits the course of IBDs...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28512459/in-vivo-chronic-stimulation-unveils-autoreactive-potential-of-wiskott-aldrich-syndrome-protein-deficient-b-cells
#5
Maria Carmina Castiello, Francesca Pala, Lucia Sereni, Elena Draghici, Donato Inverso, Aisha V Sauer, Francesca Schena, Elena Fontana, Enrico Radaelli, Paolo Uva, Karla E Cervantes-Luevano, Federica Benvenuti, Pietro L Poliani, Matteo Iannacone, Elisabetta Traggiai, Anna Villa, Marita Bosticardo
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency caused by mutations in the gene encoding the hematopoietic-specific WAS protein (WASp). WAS is frequently associated with autoimmunity, indicating a critical role of WASp in maintenance of tolerance. The role of B cells in the induction of autoreactive immune responses in WAS has been investigated in several settings, but the mechanisms leading to the development of autoimmune manifestations have been difficult to evaluate in the mouse models of the disease that do not spontaneously develop autoimmunity...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28509119/serial-sonographic-findings-during-progression-from-acute-pyelonephritis-to-renal-abscess-a-rare-case-report
#6
Masayuki Sato, Shigeru Suzuki, Sorachi Shimada, Shiho Yamamoto, Genya Taketazu, Tokuo Mukai, Mio Taketazu, Hiroshi Sakata, Junichi Oki
Renal abscess, accumulation of infective fluid in the kidney, is a rare pathology. Currently, no reports of the serial imaging changes of acute pyelonephritis (APN) progressing to renal abscess exist. We report clinical and serial sonographic findings of a patient with hyper-immunoglobulin E syndrome, a primary immunodeficiency, who developed APN that progressed to renal abscess. Renal ultrasonography revealed that echogenicity of infectious lesions dramatically changed from isoechoic to hyperechoic and to hypoechoic during progression...
September 24, 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28503543/irak4-deficiency-in-a-patient-with-recurrent-pneumococcal-infections-case-report-and-review-of-the-literature
#7
Karina Gobin, Mary Hintermeyer, Bertrand Boisson, Maya Chrabieh, Pegah Gandil, Ann Puel, Capucine Picard, Jean-Laurent Casanova, John Routes, James Verbsky
Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes and start the inflammatory cascade. Sensing of microbes occurs by a number of pathogen-recognition receptors, resulting in the activation of inflammatory signal transduction pathways, such as the activation of NF-κB. Herein, we describe a case of IRAK4 deficiency, a key signal transduction molecule of toll-like and IL-1 receptors...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28502416/the-heterogeneity-of-systemic-inflammation-in-bronchiectasis
#8
Aarash D Saleh, James D Chalmers, Anthony De Soyza, Thomas C Fardon, Spiro O Koustas, Jonathan Scott, A John Simpson, Jeremy S Brown, John R Hurst
BACKGROUND: Systemic inflammation in bronchiectasis is poorly studied in relation to aetiology and severity. We hypothesized that molecular patterns of inflammation may define particular aetiology and severity groups in bronchiectasis. METHOD: We assayed blood concentrations of 31 proteins from 90 bronchiectasis patients (derivation cohort) and conducted PCA to examine relationships between these markers, disease aetiology and severity. Key results were validated in two separate cohorts of 97 and 79 patients from other centres...
June 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28497675/evaluation-of-pulmonary-complications-in-patients-with-primary-immunodeficiency-disorders
#9
M Reisi, G Azizi, F Kiaee, F Masiha, R Shirzadi, T Momen, H Rafiemanesh, N Tavakolinia, M Modaresi, A Aghamohammadi
Background. Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of immune system are defected. Moreover, affected patients are at high risk for developing recurrent infections, particularly pulmonary infections. The spectrum of pulmonary manifestations in PIDs is broad, and includes acute and chronic infection, structural abnormalities (eg, bronchiectasis), malignancy and dysregulated inflammation resulting in tissue damage. In this study, our aims are to evaluate pulmonary complications in PID patients...
May 2017: European Annals of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28488220/pla2r-positive-primary-membranous-nephropathy-in-a-child-with-ipex-syndrome
#10
Teresa Chuva, Frederick Pfister, Ortraud Beringer, Kerstin Felgentreff, Maike Büttner-Herold, Kerstin Amann
BACKGROUND: Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency syndrome characterized by the development of multiple autoimmune disorders in affected individuals. Different forms of renal injury have been reported in IPEX syndrome, and membranous nephropathy (MN) is among the most common glomerulopathies found. However, the exact pathogenesis of MN in this setting has not been elucidated, and it is not clear whether it is part of the clinical spectrum of the disease or secondary to medications, infections or other concomitant insults...
May 9, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28487086/an-evaluation-of-the-trec-assay-with-regard-to-the-integration-of-scid-screening-into-the-dutch-newborn-screening-program
#11
Maartje Blom, Ingrid Pico-Knijnenburg, Marja Sijne-van Veen, Anita Boelen, Robbert G M Bredius, Mirjam van der Burg, Peter C J I Schielen
Newborn screening of severe combined immunodeficiency through the detection of T-cell receptor excision circles will provide the opportunity of treating before the occurrence of life-threatening infections. With the EnLite Neonatal TREC assay (PerkinElmer) and end-point PCR, 39 samples (3.0%) of 1295 heel prick cards of the Dutch newborn screening program required a retest after initial analysis. After retest, 21 samples (1.62%) gave TREC levels below cut-off. A significant reduction in TREC levels was observed in heel prick cards stored for three months (n=33) and one year (n=33)...
May 6, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28484900/diagnostic-delay-of-primary-immunodeficiencies-at-a-tertiary-care-hospital-in-peru-brief-report
#12
Liz E Veramendi-Espinoza, Jessica H Zafra-Tanaka, Gabriela A Pérez-Casquino, Wilmer O Córdova-Calderón
OBJECTIVE: The aim of the study was to assess the diagnostic delay in pediatric patients with primary immunodeficiencies (PID) at a tertiary care hospital in Peru. METHODS: A descriptive study was carried out in which patients from a third-level referral center in Peru were included. Those without a specific diagnosis of PID were excluded. Data was collected by reviewing the medical records and interviewing patients' family members. RESULTS: A total of 45 patients with a mean of 7...
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28480310/genetic-engineering-and-manufacturing-of-hematopoietic-stem-cells
#13
REVIEW
Xiuyan Wang, Isabelle Rivière
The marketing approval of genetically engineered hematopoietic stem cells (HSCs) as the first-line therapy for the treatment of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) is a tribute to the substantial progress that has been made regarding HSC engineering in the past decade. Reproducible manufacturing of high-quality, clinical-grade, genetically engineered HSCs is the foundation for broadening the application of this technology. Herein, the current state-of-the-art manufacturing platforms to genetically engineer HSCs as well as the challenges pertaining to production standardization and product characterization are addressed in the context of primary immunodeficiency diseases (PIDs) and other monogenic disorders...
June 16, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28469999/immunodeficiency-associated-lymphoid-hyperplasia-as-a-cause-of-intussusception-in-a-case-of-activated-pi3k-%C3%AE-syndrome
#14
Daniel Mettman, Isabelle Thiffault, Chitra Dinakar, Carol Saunders
Activated PI3K-δ syndrome refers to a recently described primary immunodeficiency syndrome consisting of recurrent sinopulmonary infections, lymphadenopathy, mucosal lymphoid aggregates, increased susceptibility to Epstein-Barr virus and cytomegalovirus, and increased incidence of B-cell lymphomas. Variants in PIK3CD, which encodes the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform, enhance membrane association and kinase activity, resulting in increased signal transduction through the PI3K-Akt pathway...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28466095/survival-of-the-fetus-fetal-b-and-t-cell-receptor-repertoire-development
#15
REVIEW
Erez Rechavi, Raz Somech
A mature and diverse T and B cell receptor repertoire is a prerequisite for immunocompetence. In light of its increased susceptibility to infection, the human fetus has long been considered deficient in this regard. However, data accumulated since the 1990s and in earnest in the past couple of years paints a more complicated picture. As we describe in this review, mechanisms responsible for generating a diverse receptor repertoire, such as somatic recombination, class switch recombination, and somatic hypermutation, are all operational to surprising extents in the growing fetus...
May 2, 2017: Seminars in Immunopathology
https://www.readbyqxmd.com/read/28463775/identifying-dynamic-pathway-interactions-based-on-clinical-information
#16
Shinuk Kim
In this paper, we introduce approaches for inferring dynamic pathway interactions by converting static datasets into dynamic datasets using patients' clinical information. One approach uses survival time-based dynamic datasets, and the other uses grade- and stage-based dynamic datasets. Based on cancer grades and stages, we generated six dynamic levels and obtained two pairs of significant pathways out of twelve enriched pathways. One pair of the pathways included CELL ADHESION MOLECULES CAMS and SYSTEMIC LUPUS ERYTHEMATOSUS (correlation coefficient=1...
April 24, 2017: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28449602/reference-values-for-b-cell-surface-markers-and-co-receptors-associated-with-primary-immune-deficiencies-in-healthy-turkish-children
#17
Elif Azarsiz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer
In order to evaluate B-lymphocyte subsets of patients with primary immunodeficiencies, the normal values for national healthy children have to be used as a reference. Recently, B-cell co-receptor markers (CD19, CD21, and CD81) and CD20, CD22, and CD27 deficiencies have been reported in relation with different primary immunodeficiency diseases. The objective of this study was to establish national reference values for B-lymphocyte co-receptors and some surface markers, CD20, CD22, CD27, as well as classic lymphocyte subsets in the peripheral blood of healthy children...
April 1, 2017: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/28448599/simulation-of-the-dynamics-of-primary-immunodeficiencies-in-cd4-t-cells
#18
Gabriel N Teku, Mauno Vihinen
Primary immunodeficiencies (PIDs) form a large and heterogeneous group of mainly rare disorders that affect the immune system. T-cell deficiencies account for about one-tenth of PIDs, most of them being monogenic. Apart from genetic and clinical information, lots of other data are available for PID proteins and genes, including functions and interactions. Thus, it is possible to perform systems biology studies on the effects of PIDs on T-cell physiology and response. To achieve this, we reconstructed a T-cell network model based on literature mining and TPPIN, a previously published core T-cell network, and performed semi-quantitative dynamic network simulations on both normal and T-cell PID failure modes...
2017: PloS One
https://www.readbyqxmd.com/read/28448570/disease-burden-for-patients-with-primary-immunodeficiency-diseases-identified-at-reference-hospitals-in-guanajuato-mexico
#19
Eduardo Guaní-Guerra, Ana Isabel Jiménez-Romero, Ulises Noel García-Ramírez, José Manuel Velázquez-Ávalos, Edgar Martínez-Guzmán, Eunice Sandoval-Ramírez, Ignacio Camacho-Meza
BACKGROUND: In addition to the deleterious effect on health, there is considerable economic and psychosocial morbidity associated with primary immunodeficiency diseases (PID). Also, the cost of a late diagnosis frequently results in a heavy disease burden on the patient. The objective of this study was to collect and analyze data on patients with PID in the state of Guanajuato in Mexico, to indirectly estimate the burden of the disease. METHODS: An observational, longitudinal, and comparative study was conducted...
2017: PloS One
https://www.readbyqxmd.com/read/28446389/infectious-and-non-infectious-pulmonary-complications-in-primary-immunodeficiencies
#20
R Yazdani, H Abolhassani, M Asgardoon, M Shaghaghi, M Modaresi, G Azizi, A Aghamohammadi
Primary immunodeficiency disorders (PIDs) have been described as diseases caused by one or more defects of the immune system. These patients are more likely to experience recurrent and/or severe infections and have a tendency to develop a wide range of complications. Respiratory diseases are the main and initial manifestation for the majority of PID patients and most common complication in this group of patients. Pulmonary complications present a significant cause of morbidity and also mortality among patients suffering from different forms of PIDs...
April 27, 2017: Journal of Investigational Allergology & Clinical Immunology
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