keyword
MENU ▼
Read by QxMD icon Read
search

Primary immunodeficiences

keyword
https://www.readbyqxmd.com/read/28318195/-serratia-infections-should-we-think-about-primary-immunodeficiencies
#1
Alicia Montaner Ramón, Laura Murillo Sanjuán, Cristina Martínez Faci, Carmelo Guerrero Laleona, Carmen Rodríguez-Vigil Iturrate
Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200,000-250,000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28316003/evaluation-of-the-safety-tolerability-and-pharmacokinetics-of-gammaplex-%C3%A2-10-versus-gammaplex-%C3%A2-5-in-subjects-with-primary-immunodeficiency
#2
Richard L Wasserman, Isaac R Melamed, Mark R Stein, Stephen Jolles, Miranda Norton, James N Moy
PURPOSE: This phase 3, multicenter, open-label, randomized, two-period, crossover bioequivalence trial evaluated the safety, tolerability, and pharmacokinetics of intravenous immunoglobulins (IVIGs) Gammaplex 5% and Gammaplex 10% in 33 adults and 15 children with primary immunodeficiency diseases (PIDs). METHODS: Eligible adults received five Gammaplex 5% infusions followed by five Gammaplex 10% infusions, or vice versa, stratified by a 21- or 28-day dosing regimen...
March 18, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28304004/x-linked-agammaglobulinemia-first-case-with-bruton-tyrosine-kinase-mutation-from-pakistan
#3
Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan...
March 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28302518/mutations-in-pik3r1-can-lead-to-apds2-short-syndrome-or-a-combination-of-the-two
#4
M Bravo García-Morato, S García-Miñaúr, J Molina Garicano, F Santos Simarro, E López-Grandos, A Ferreira Cerdán, R Rodríguez Pena
Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-related phenotypes. Here we describe two more patients affected by APDS2 and SHORT syndrome, which highlights that this association may not be so infrequent. We recommend that patients with mutations in PIK3R1 gene should be assessed by both clinical immunologists and clinical geneticists...
March 13, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28302172/transcriptome-analysis-of-bronchoalveolar-lavage-fluid-from-children-with-severe-mycoplasma-pneumoniae-pneumonia-reveals-novel-gene-expression-and-immunodeficiency
#5
Kuo Wang, Man Gao, Mingyue Yang, Fanzheng Meng, Deli Li, Ruihua Lu, Yan Wang, Huadong Zhuang, Mengyao Li, Genhong Cheng, Xiaosong Wang
BACKGROUND: A growing number of severe Mycoplasma pneumoniae pneumonia (MPP) cases have been reported recently. However, the pathogenesis of severe MPP is not clear. In the current study, transcriptome sequencing was used to identify gene expression and alternative splicing profiles to provide insights into the pathogenesis of severe MPP. METHODS: RNAs of bronchoalveolar lavage fluid (BALF) samples from three severe MPP children and three mild MPP children were analyzed respectively by deep sequencing followed by computational annotation and quantification...
March 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28299599/incidence-of-typically-severe-primary-immunodeficiency-diseases-in-consanguineous-and-non-consanguineous-populations
#6
Arnon Broides, Amit Nahum, Amarilla B Mandola, Lihi Rozner, Vered Pinsk, Galina Ling, Baruch Yerushalmi, Jacov Levy, Noga Givon-Lavi
PURPOSE: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. METHODS: A retrospective analysis of all typically severe primary immunodeficiency diseases evaluated at a single center from January 1, 1996 to December 31, 2016...
March 16, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28298291/plasmablast-response-to-primary-rhesus-cytomegalovirus-infection-in-a-monkey-model-of-congenital-cmv-transmission
#7
Qihua Fan, Cody S Nelson, Kristy M Bialas, Flavia Chiuppesi, Joshua Amos, Thaddeus C Gurley, Dawn Jones Marshall, Joshua Eudailey, Holly Heimsath, Jonathon Himes, Ashlesha Deshpande, Mark R Walter, Felix Wussow, Don J Diamond, Peter A Barry, M Anthony Moody, Amitinder Kaur, Sallie R Permar
Human cytomegalovirus (HCMV) is the most common congenital infection worldwide, and the leading infectious cause of neurologic deficits and hearing loss in newborns. Development of a maternal HCMV vaccine to prevent vertical virus transmission is a high priority, yet protective maternal immune responses following acute infection are poorly understood. To characterize the maternal humoral immune response to primary CMV infection, we investigated the plasmablast and early antibody repertoire using a nonhuman primate model with two acutely rhesus CMV (RhCMV) infected animals - a CD4+ T cell-depleted dam that experienced fetal loss shortly after vertical RhCMV transmission and an immunocompetent dam that did not transmit RhCMV to her infant...
March 15, 2017: Clinical and Vaccine Immunology: CVI
https://www.readbyqxmd.com/read/28295345/the-viral-protein-gp120-decreases-the-acetylation-of-neuronal-tubulin-potential-mechanism-of-neurotoxicity
#8
Valeria Avdoshina, Seamus P Caragher, Erin D Wenzel, Francesca Taraballi, Italo Mocchetti, G Jean Harry
The human immunodeficiency virus (HIV) envelope protein gp120 promotes axonal damage and neurite pruning, similar to that observed in HIV positive subjects with neurocognitive disorders. Thus, gp120 has been used to examine molecular and cellular pathways underlying HIV-mediated neuronal dysfunction. Gp120 binds to tubulin beta III, a component of neuronal microtubules. Microtubule function, which modulates the homeostasis of neurons, is regulated by polymerization and post-translational modifications. Based on these considerations, we tested the hypothesis that gp120 induces dynamic instability of neuronal microtubules...
March 10, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28293550/dock-8-deficiency-ebv-lymphomatoid-granulomatosis-and-intrafamilial-variation-in-presentation
#9
Victoria R Dimitriades, Vincent Devlin, Stefania Pittaluga, Helen C Su, Steven M Holland, Wyndham Wilson, Kieron Dunleavy, Nirali N Shah, Alexandra F Freeman
Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl was initially evaluated for mild eczema and recurrent sinopulmonary infections. She had normal immunoglobulins with elevated IgE, poor polysaccharide response with low switched memory B cells, low CD4 count, and normal mitogen and antigen responses...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28293507/soluble-epoxide-hydrolase-inhibition-and-epoxyeicosatrienoic-acid-treatment-improve-vascularization-of-engineered-skin-substitutes
#10
Dorothy M Supp, Jennifer M Hahn, Kevin L McFarland, Kelly A Combs, Kin Sing Stephen Lee, Bora Inceoglu, Debin Wan, Steven T Boyce, Bruce D Hammock
BACKGROUND: Autologous engineered skin substitutes comprised of keratinocytes, fibroblasts, and biopolymers can serve as an adjunctive treatment for excised burns. However, engineered skin lacks a vascular plexus at the time of grafting, leading to slower vascularization and reduced rates of engraftment compared with autograft. Hypothetically, vascularization of engineered skin grafts can be improved by treatment with proangiogenic agents at the time of grafting. Epoxyeicosatrienoic acids (EETs) are cytochrome P450 metabolites of arachidonic acid that are inactivated by soluble epoxide hydrolase (sEH)...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28292647/transfusion-transmitted-infections-in-frequently-transfused-thalassemic-children-living-in-fayoum-governorate-egypt-current-prevalence-and-risk-factors
#11
Zeze Th Atwa, Wafaa Y Abdel Wahed
Regular blood transfusion therapy remains the primary treatment in thalassemia major (TM). Transfusion-transmitted infections (TTIs) and iron overload are considered to be the major drawbacks of this therapy. This cross-sectional study aimed to update the prevalence of the hepatitis C virus (HCV) antibody, PCR-confirmed HCV, hepatitis B surface antigen (HBsAg), and human immunodeficiency virus (HIV) antibody among TM children. Clinical and epidemiological factors that can affect HCV infection prevalence rate were studied...
March 11, 2017: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/28289412/follicular-t-cells-from-smb-common-variable-immunodeficiency-patients-are-skewed-toward-a-th1-phenotype
#12
Vanesa Cunill, Antonio Clemente, Nallibe Lanio, Carla Barceló, Valero Andreu, Jaume Pons, Joana M Ferrer
Germinal center follicular T helper (GCTfh) cells are essential players in the differentiation of B cells. Circulating follicular T helper (cTfh) cells share phenotypic and functional properties with GCTfh cells. Distinct subpopulations of cTfh with different helper capabilities toward B cells can be identified: cTfh1 (CXCR3(+)CCR6(-)), cTfh2 (CXCR3(-)CCR6(-)), and cTfh17 (CXCR3(-)CCR6(+)). Alterations in cTfh function and/or distribution have been associated with autoimmunity, infectious diseases, and more recently, with several monogenic immunodeficiencies...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28288951/haploidentical-related-donor-hematopoietic-stem-cell-transplantation-for-dock8-deficiency-using-post-transplantation-cyclophosphamide
#13
Nirali N Shah, Alexandra F Freeman, Helen Su, Kristen Cole, Mark Parta, Niki M Moutsopoulos, Safa Baris, Elif Karakoc-Aydiner, Thomas E Hughes, Heidi H Kong, Steve M Holland, Dennis D Hickstein
Dedicator-of-Cytokinesis-8 (DOCK8) deficiency, a primary immunodeficiency disease, can be reversed by allogeneic hematopoietic stem cell transplant (HSCT); however, there are few reports describing the use of alternative donor sources for HSCT in DOCK8 deficiency. We describe HSCT for patients with DOCK8 deficiency who lack a matched related or unrelated donor using bone marrow from haploidentical related donors and post-transplantation cyclophosphamide (PT/CY) for GVHD prophylaxis. Seven patients with DOCK8 deficiency (median age 20 years, range 7-25 years) received a haploidentical related donor HSCT...
March 10, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28288231/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#14
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María Angélica Marinovic
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28285796/cardiovascular-disease-in-women-with-hiv-1-infection
#15
Massimo Volpe, Alessia Uglietti, Antonella Castagna, Cristina Mussini, Giulia Marchetti, Rita Bellagamba, Teresa Bini, Daniela Mancusi, Roberta Termini
Cardiovascular disease is a leading cause of death in women, nevertheless it is often underestimated in female patients without overt risk factors. The chronic infection by Human Immunodeficiency Virus (HIV) is clearly associated, along with the use of certain antiretroviral drugs and traditional risk factors, with an increased risk of cardiovascular diseases. The aim of this manuscript is to review the epidemiology, risk factors, pathogenesis, diagnostic approach, primary and secondary prevention strategies of cardiovascular disease in HIV-negative and HIV-positive female subjects...
February 27, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28285195/engineering-intravaginal-vaccines-to-overcome-mucosal-and-epithelial-barriers
#16
Zhonghua Ji, Zhaolu Xie, Zhirong Zhang, Tao Gong, Xun Sun
The mucosal surface of the vagina is a primary human immunodeficiency virus (HIV) entry portal, making it an attractive site for HIV vaccination. However, HIV vaccines based on recombinant adenovirus (rAd) do not efficiently cross the mucus layers or underlying epithelium of the vagina. Here we designed nanocomplexes of rAd particles coated with (1) the polyethylene glycol derivative APS to provide a hydrophilic surface that would prevent entrapment in the hydrophobic mucus, and (2) the cell-penetrating peptide TAT to improve transduction efficiency...
March 7, 2017: Biomaterials
https://www.readbyqxmd.com/read/28284485/abnormality-of-regulatory-t-cells-in-common-variable-immunodeficiency
#17
REVIEW
Gholamreza Azizi, Nasim Hafezi, Hamed Mohammadi, Reza Yazdai, Tina Alinia, Marzieh Tavakol, Asghar Aghamohammadi, Abbas Mirshafiey
Common variable immunodeficiency (CVID) is a heterogeneous group of primary antibody deficiencies (PAD) which is defined by recurrent infections, hypogammaglobulinemia and defects in B-cell differentiation into plasma cells and memory B cells. T cell abnormalities have also been described in CVID patients. Several studies reported that Treg frequencies and their functional characteristics are disturbed and might account for the aberrant immune responses observed in CVID patients. The aim of this review is to describe phenotypic and functional characteristics of Treg cells, and to review the literature with respect to the reported Treg defects and its association with the clinical manifestation in CVID...
December 29, 2016: Cellular Immunology
https://www.readbyqxmd.com/read/28284255/a-systematic-review-of-prediction-models-for-prevalent-pulmonary-tuberculosis-in-adults
#18
S S Van Wyk, H H Lin, M M Claassens
A systematic review was conducted to describe the quality and characteristics of prediction models for prevalent pulmonary tuberculosis (PTB) in adults at routine TB care settings. A prediction model was defined as the combination of two or more clinical predictors designed to estimate the probability of having TB. Studies using culture-confirmed PTB as reference standard were included. Models for in-patients, children or specific patient populations were excluded. PubMed, Scopus and the Cochrane Library and abstracts from the International Union Against Tuberculosis and Lung Disease, American Thoracic Society and European Respiratory Society conferences were searched...
April 1, 2017: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/28282271/safety-and-efficacy-of-pegylated-interferon-lambda-ribavirin-and-daclatasvir-in-hcv-and-hiv-coinfected-patients
#19
Mark Nelson, Rafael Rubio, Adriano Lazzarin, Svetlana Romanova, Annie Luetkemeyer, Brian Conway, Jean-Michel Molina, Dong Xu, Subasree Srinivasan, Simon Portsmouth
To evaluate the efficacy and safety of pegylated interferon-lambda-1a (Lambda)/ribavirin (RBV)/daclatasvir (DCV) for treatment of patients coinfected with chronic hepatitis C virus (HCV) and human immunodeficiency virus (HIV). Treatment-naive patients were assigned to cohort A [HCV genotype (GT)-2 or -3] or cohort B [HCV GT-1(a or b) or -4]. All patients received Lambda/RBV/DCV for the first 12 weeks; cohort A received Lambda/RBV for an additional 12 weeks, followed by 24 weeks of follow-up, and cohort B received response-guided therapy...
March 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28282242/influence-of-the-injury-to-surgery-interval-on-the-healing-potential-of-human-anterior-cruciate-ligament-derived-cells
#20
Takao Inokuchi, Tomoyuki Matsumoto, Koji Takayama, Naoki Nakano, Shurong Zhang, Daisuke Araki, Takehiko Matsushita, Ryosuke Kuroda
BACKGROUND: Vascular CD34+ cells in anterior cruciate ligament (ACL) tissue have the potential for high proliferation and multilineage differentiation that can accelerate tendon-bone healing. While patient characteristics, such as age, can affect tendon-bone healing, the influence of elapsed time after injury on the healing process is unclear. HYPOTHESIS: Cells obtained during the early phase after injury will exhibit a greater tendon-bone healing potential compared with chronic phase counterparts when applied to an immunodeficient rat model of ACL reconstruction...
March 1, 2017: American Journal of Sports Medicine
keyword
keyword
10059
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"