keyword
MENU ▼
Read by QxMD icon Read
search

Primary immune deficiency

keyword
https://www.readbyqxmd.com/read/28652580/immunological-phenotype-of-the-murine-lrba-knockout
#1
Laura Gámez-Díaz, Julika Neumann, Fiona Jäger, Michele Proietti, Felicitas Felber, Pauline Soulas-Sprauel, Lisa Perruzza, Fabio Grassi, Tamara Kögl, Peter Aichele, Manfred Kilimann, Bodo Grimbacher, Sophie Jung
Biallelic mutations in the human Lipopolysaccharide Responsive Beige-like Anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized by a broad range of clinical manifestations including autoimmunity, organomegaly, hypogammaglobulinemia and recurrent infections. Considering the phenotypic heterogeneity in patients and the severity of the disease, our aim was to assess the role of LRBA in immune cells and to understand the underlying pathomechanisms through the study of a Lrba knockout (Lrba(-/-)) mouse model...
June 27, 2017: Immunology and Cell Biology
https://www.readbyqxmd.com/read/28651547/autoantibodies-against-baff-april-or-il21-an-alternative-pathogenesis-for-antibody-deficiencies
#2
Marian-Christopher Pott, Natalie Frede, Jennifer Wanders, Lennart Hammarström, Erik-Oliver Glocker, Cristina Glocker, Fariba Tahami, Bodo Grimbacher
BACKGROUND: The ability of anti-cytokine antibodies to play a disease-causing role in the pathogenesis of immunodeficiencies is widely accepted. The aim of this study was to investigate whether autoantibodies against BAFF (important B cell survival signal), APRIL (important plasma cell survival signal), or Interleukin-21 (important cytokine for immunoglobulin class switch) present an alternative mechanism for the development of the following primary antibody deficiencies (PADs): common variable immune deficiency (CVID) or selective IgA deficiency (sIgAD)...
June 26, 2017: BMC Immunology
https://www.readbyqxmd.com/read/28646085/generation-of-a-collection-of-mutant-tomato-lines-using-pooled-crispr-libraries
#3
Thomas B Jacobs, Ning Zhang, Dhruv Patel, Gregory B Martin
The high efficiency of CRIPSR-mediated mutagenesis in plants enables the development of high-throughput mutagenesis strategies. By transforming pooled CRISPR libraries into tomato, collections of mutant lines were generated with minimal transformation attempts and in a relatively short period of time. Identification of the targeted gene(s) was easily determined by sequencing the incorporated gRNA(s) in the primary transgenic events. From a single transformation with a CRISPR library targeting the immunity-associated leucine-rich repeat subfamily XII genes, heritable mutations were recovered in 15 of the 54 genes targeted...
June 23, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28637954/increases-in-il-33-production-by-fimbriae-and-lipopeptide-from-porphyromonas-gingivalis-in-mouse-bone-marrow-derived-dendritic-cells-via-toll-like-receptor-2
#4
Hiroyuki Tada, Risako Suzuki, Eiji Nemoto, Hidetoshi Shimauchi, Kenji Matsushita, Haruhiko Takada
Interleukin-33 (IL-33) is an IL-1 cytokine family member that is involved in the development of chronic inflammatory diseases and the initiation of allergic inflammation in response to pathogens. Porphyromonas gingivalis is a primary pathogen that is involved in chronic periodontitis and its bacterial components induce inflammatory responses. Dendritic cells (DCs) recognize pathogen- associated molecular patterns by expression of pattern-recognition receptors, such as Toll-like receptors (TLRs). DCs play an essential role in resistance to infection and maintenance of mucosal immune system...
2017: Biomedical Research
https://www.readbyqxmd.com/read/28637896/technical-advance-new-in-vitro-method-for-assaying-the-migration-of-primary-b-cells-using-an-endothelial-monolayer-as-substrate
#5
Phillip J Stewart-Hutchinson, Taylor P Szasz, Emily R Jaeger, Michael D Onken, John A Cooper, Sharon Celeste Morley
Migration of B cells supports their development and recruitment into functional niches. Therefore, defining factors that control B cell migration will lead to a better understanding of adaptive immunity. In vitro cell migration assays with B cells have been limited by poor adhesion of cells to glass coated with adhesion molecules. We have developed a technique using monolayers of endothelial cells as the substrate for B cell migration and used this technique to establish a robust in vitro assay for B cell migration...
June 21, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28636500/the-association-of-rs1047763-and-rs1008898-of-c1galt1-with-iga-nephropathy-risk-a-global-meta-analysis
#6
Ruili Nie, Guixue Cheng, Jin Zhang, Yu Dong, Chen Wang, Jianhua Liu, Xiaosong Qin
IgA nephropathy (IgAN) is a globally common primary glomerulonephritis characterized by an elevated level of serum IgA and immune complex deposition in the mesangial area. In the serum of patients with IgAN, the hinge region of IgA1 immunoglobulin contains aberrantly glycosylated O-glycans deficient in galactose, which is normally added to the core 1 O-glycan structure by core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1), the key enzyme in the process of glycosylation...
June 2017: Monoclonal Antibodies in Immunodiagnosis and Immunotherapy
https://www.readbyqxmd.com/read/28634345/sirtuin-3-deficiency-does-not-alter-host-defenses-against-bacterial-and-fungal-infections
#7
Eleonora Ciarlo, Tytti Heinonen, Jérôme Lugrin, Hans Acha-Orbea, Didier Le Roy, Johan Auwerx, Thierry Roger
Sirtuin 3 (SIRT3) is the main mitochondrial deacetylase. SIRT3 regulates cell metabolism and redox homeostasis, and protects from aging and age-associated pathologies. SIRT3 may drive both oncogenic and tumor-suppressive effects. SIRT3 deficiency has been reported to promote chronic inflammation-related disorders, but whether SIRT3 impacts on innate immune responses and host defenses against infections remains essentially unknown. This aspect is of primary importance considering the great interest in developing SIRT3-targeted therapies...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28626409/hiv-associated-cerebellar-dysfunction-and-improvement-with-aminopyridine-therapy-a-case-report
#8
Carolin Hoyer, Angelika Alonso, Beate Schlotter-Weigel, Michael Platten, Marc Fatar
Apart from infectious causes and cerebellar dysfunction associated with acquired immune deficiency syndrome dementia or HIV-associated neurocognitive disorder, cerebellar dysfunction in HIV-positive individuals has been ascribed to granule cell neuronopathy as well as primary cerebellar atrophy without identifiable etiology. We report the case of a patient with progressive cerebellar dysfunction as the primary manifestation of HIV infection. No symptom improvement was seen under combination antiretroviral therapy, which had been established upon diagnosis, but the patient improved rapidly under 4-aminopyridine treatment, which was recommended 1 year later...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28625885/dock8-deficiency-insights-into-pathophysiology-clinical-features-and-management
#9
REVIEW
Catherine M Biggs, Sevgi Keles, Talal A Chatila
Dedicator of Cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer. It is caused by loss of function mutations in DOCK8, encoding a guanine nucleotide exchange factor highly expressed in lymphocytes that regulates the actin cytoskeleton. Additional roles of DOCK8 have also emerged, including regulating MyD88-dependent Toll-like receptor signaling and the activation of the transcription factor STAT3...
June 15, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28625040/vitamin-d-status-in-under-five-children-with-a-history-of-close-tuberculosis-contact-in-padang-west-sumatra
#10
Finny Fitry Yani, Nur Indrawaty Lipoeto, Bambang Supriyatno, Eryati Darwin, Darfioes Basir
BACKGROUND AND OBJECTIVE: Serum vitamin D influences cellular immunity against Mycobacterium tuberculosis, particularly in under-five children. Vitamin D insufficiency and deficiency as well as tuberculosis (TB) are highly prevalent in Indonesia. This study described the association of serum vitamin D in the incidence of latent TB in under-five children with a history of close TB contact. METHODS AND STUDY DESIGN: This cross-sectional study examined 178 under-five children with a history of close TB contact, with 98 index cases from primary health care facilities in Padang...
June 2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28624132/schizogony-and-gametogony-of-oocyst-deficient-t-263-strain-of-toxoplasma-gondii
#11
J P Dubey
Oocysts are important stage for the spread of Toxoplasma gondii because they are environmentally resistant. Among all hosts of T. gondii, only felids can excrete oocysts. Cats that have excreted T. gondii oocysts after primary infection develop immunity to re-excretion of oocysts, and this immunity appears to be long-lasting. It would be desirable to have a non-infectious vaccine for the prevention of T. gondii infection in cats and to understand mechanism of immunity to excretion of oocysts. An initial step will be to indentify stage/stages of the parasite for induction of immunity...
May 27, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28623346/early-onset-primary-antibody-deficiency-resembling-common-variable-immunodeficiency-challenges-the-diagnosis-of-wiedeman-steiner-and-roifman-syndromes
#12
Delfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P Leroy, Julie E Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N Lambrecht, Frans De Baets, Sergio D Rosenzweig, Elfride De Baere, Filomeen Haerynck
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28619678/april-taci-axis-is-dispensable-for-the-immune-response-to-rabies-vaccination
#13
Shannon L Haley, Evgeni P Tzvetkov, Andrew G Lytle, Kishore R Alugupalli, Joseph R Plummer, James P McGettigan
There is significant need to develop a single-dose rabies vaccine to replace the current multi-dose rabies vaccine regimen and eliminate the requirement for rabies immune globulin in post-exposure settings. To accomplish this goal, rabies virus (RABV)-based vaccines must rapidly activate B cells to secrete antibodies which neutralize pathogenic RABV before it enters the CNS. Increased understanding of how B cells effectively respond to RABV-based vaccines may improve efforts to simplify post-exposure prophylaxis (PEP) regimens...
June 12, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28611299/cblb-deficient-t-cells-are-less-susceptible-to-pd-l1-mediated-inhibition
#14
Sebastian Peer, Gottfried Baier, Thomas Gruber
Modulation of the immune system for the treatment of primary and metastatic tumors has been a goal of cancer research for many years. The E3 ubiquitin ligase Cbl-b has been established as an intracellular checkpoint that limits T cell activation, critically contributing to the maintenance of self-tolerance. Furthermore, it has been shown that Cblb deficiency enhances T cell effector functions towards tumors. Blockade of the immune checkpoints CTLA-4 and PD-1/PD-L1 has recently emerged as a promising strategy in the development of effective cancer immune therapies...
June 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28606585/cancer-in-primary-immunodeficiency-diseases-cancer-incidence-in-the-united-states-immune-deficiency-network-registry
#15
Paul C Mayor, Kevin H Eng, Kelly L Singel, Scott I Abrams, Kunle Odunsi, Kirsten B Moysich, Ramsay Fuleihan, Elizabeth Garabedian, Patricia Lugar, Hans D Ochs, Francisco A Bonilla, Rebecca H Buckley, Kathleen E Sullivan, Zuhair K Ballas, Charlotte Cunningham-Rundles, Brahm H Segal
BACKGROUND: We evaluated the overall and site-specific incidence of cancer in subjects with primary immunodeficiency diseases (PIDD) enrolled in the United States Immune Deficiency Network (USIDNET) registry compared with age-adjusted cancer incidence in the Surveillance, Epidemiology and End Results Program (SEER) database. We hypothesized that subjects with PIDD would have an increased incidence of cancer due to impaired immune function. METHODS: Overall and site-specific cancer incidence rates were evaluated in subjects with PIDD (n = 3,658) enrolled in the USIDNET registry from 2003-2015, and compared with age-adjusted incidence rates in the SEER database...
June 9, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28606051/comparison-of-bone-mineral-density-in-common-variable-immunodeficiency-and-x-linked-agammaglobulinaemia-patients
#16
Ali Mohebbi, Gholamreza Azizi, Naeimeh Tavakolinia, Mehdi Karimipour, Fatemeh Kiaee, Reza Yazdani, Sareh Sadat Ebrahimi, Hosein Rafiemanesh, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi, Farzaneh Abbasi, Fatemeh Sayarifard, Mehran Ebrahimi, Javad Tafaroji
BACKGROUND: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. In the present study, our aim was to evaluate bone mineral density (BMD) of patients with CVID and XLA...
June 11, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28603521/novel-combined-immune-deficiency-and-radiation-sensitivity-blended-phenotype-in-an-adult-with-biallelic-variations-in-zap70-and-rnf168
#17
Ivan K Chinn, Robert P Sanders, Asbjørg Stray-Pedersen, Zeynep H Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Chaim M Roifman, Troy Quigg, James R Lupski, Jordan S Orange, I Celine Hanson
With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these "mendelizing" disease traits represent phenotypes caused by single-gene defects, a percentage of patients have blended phenotypes caused by pathogenic variants in multiple genes. We describe an adult patient with susceptibility to bacterial, herpesviral, and fungal infections...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28601684/b-cells-control-maternofetal-priming-of-allergy-and-tolerance-in-a-murine-model-of-allergic-airway-inflammation
#18
Christine Happle, Adan Chari Jirmo, Almut Meyer-Bahlburg, Anika Habener, Heinz Gerd Hoymann, Christian Hennig, Jelena Skuljec, Gesine Hansen
BACKGROUND: Allergic asthma is a chronic lung disease resulting from inappropriate immune responses to environmental antigens. Early tolerance induction is an attractive approach for primary prevention of asthma. OBJECTIVE: We analysed the mechanisms of perinatal tolerance induction to allergens with particular focus on the role of B cells in preconceptional and early intrauterine immune priming. METHODS: Wild type (WT) and B cell deficient mice received ovalbumin (OVA) intranasally before mating...
June 7, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28589420/the-use-of-salmonella-typhim-vaccine-to-diagnose-antibody-deficiency
#19
Mary T Bausch-Jurken, James W Verbsky, Katherine A Gonzaga, Nancy P Elms, Mary K Hintermeyer, Stephen B Gauld, John M Routes
PURPOSE: The specific antibody response to the unconjugated 23-valent pneumococcal polysaccharide vaccine is one of the most common tests used to assess for possible humoral immunodeficiency. The results can be difficult to interpret because most people have been immunized with one or more of the pneumococcal vaccines and there is controversy regarding what constitutes a normal response. To circumvent this problem, we developed an ELISA to measure IgG-specific antibodies to the Salmonella Vi Typhim (S...
June 7, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28588580/specific-antibody-deficiency-controversies-in-diagnosis-and-management
#20
REVIEW
Elena Perez, Francisco A Bonilla, Jordan S Orange, Mark Ballow
Specific antibody deficiency (SAD) is a primary immunodeficiency disease characterized by normal immunoglobulins (Igs), IgA, IgM, total IgG, and IgG subclass levels, but with recurrent infection and diminished antibody responses to polysaccharide antigens following vaccination. There is a lack of consensus regarding the diagnosis and treatment of SAD, and its clinical significance is not well understood. Here, we discuss current evidence and challenges regarding the diagnosis and treatment of SAD. SAD is normally diagnosed by determining protective titers in response to the 23-valent pneumococcal polysaccharide vaccine...
2017: Frontiers in Immunology
keyword
keyword
17398
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"