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https://www.readbyqxmd.com/read/28430123/functional-analysis-of-the-rs774872314-rs116171003-rs200231898-and-rs201107751-polymorphisms-in-the-human-ror%C3%AE-t-gene-promoter-region
#1
Marcin Ratajewski, Marcin Słomka, Kaja Karaś, Marta Sobalska-Kwapis, Małgorzata Korycka-Machała, Anna Sałkowska, Jarosław Dziadek, Dominik Strapagiel, Jarosław Dastych
RAR-related orphan receptor gamma RORγT, a tissue-specific isoform of the RORC gene, plays a critical role in the development of naive CD4+ cells into fully differentiated Th17 lymphocytes. Th17 lymphocytes are part of the host defense against numerous pathogens and are also involved in the pathogenesis of inflammatory diseases, including autoimmune disorders. In this study, we functionally examined four naturally occurring polymorphisms located within one of the previously identified GC-boxes in the promoter region of the gene...
April 21, 2017: Genes
https://www.readbyqxmd.com/read/28425252/allergic-and-autoimmune-disorders-in-families-with-selective-iga-deficiency
#2
Mustafa Erkoçoğlu, Ayşe Metin, Ayşenur Kaya, Celal Özcan, Ayşegül Akan, Ersoy Civelek, Murat Çapanoğlu, Tayfur Giniş, Can Naci Kocabaş
BACKGROUND/AIM: IgA deficiency is the most common human primary immunodeficiency. The prevalence of allergic disorders and autoimmunity is thought to be increased in selective IgA deficiency (sIgAD). However, it is currently unclear if these disorders coincide within these families. We aimed to evaluate the frequency of allergic and autoimmune disorders in children with sIgAD and their first-degree relatives (FDRs). MATERIALS AND METHODS: The study included 81 children diagnosed with sIgAD and 274 of their FDRs...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28424699/patient-s-experience-in-pediatric-primary-immunodeficiency-disorders-computerized-classification-of-questionnaires
#3
Urs Mücke, Christian Klemann, Ulrich Baumann, Almut Meyer-Bahlburg, Xiaowei Kortum, Frank Klawonn, Werner M Lechner, Lorenz Grigull
INTRODUCTION: Primary immunodeficiency disorders (PIDs) are a heterogeneous group of more than 200 rare diseases. Timely diagnosis is of uttermost importance. Therefore, we aimed to develop a diagnostic questionnaire with computerized pattern-recognition in order to support physicians to identify suspicious patient histories. MATERIALS AND METHODS: Standardized interviews were conducted with guardians of children with PID. The questionnaire based on parental observations was developed using Colaizzis' framework for content analysis...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28422000/fibromyalgia-in-300-adult-index-patients-with-primary-immunodeficiency
#4
James C Barton, Luigi F Bertoli, Jackson C Barton, Ronald T Acton
OBJECTIVES: We sought to determine the prevalence and clinical and laboratory associations of fibromyalgia in adults with primary immunodeficiency (immunoglobulin (Ig) G subclass deficiency (IgGSD) and common variable immunodeficiency (CVID). METHODS: We performed a retrospective analysis of these observations in 300 non-Hispanic white adult index patients with recurrent/severe respiratory tract infections and IgGSD or CVID: age; sex; IgGSD; fibromyalgia; chronic fatigue; autoimmune conditions (ACs); interstitial cystitis (IC); diabetes; body mass index; serum Ig isotypes; blood lymphocytes and subsets; and human leukocyte antigen (HLA)-A and -B types and haplotypes...
April 19, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28420062/intravenous-immunoglobulin-a-biological-corticosteroid-sparing-agent-in-some-autoimmune-conditions
#5
A Watad, H Amital, Y Shoenfeld
Intravenous immunoglobulin (IVIg) is increasingly used for the treatment of autoimmune and systemic inflammatory diseases. This compound is effective in a wide range of clinical conditions other than primary immunodeficiency, including autoimmune diseases, inflammatory disorders, infections, organ transplantation, and possibly supportive therapy for cancer. Systemic corticosteroids remain the gold standard treatment for many autoimmune diseases, but their long-term use is associated with complications in diverse organs and systems...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28416602/antigen-receptor-galaxy-a-user-friendly-web-based-tool-for-analysis-and-visualization-of-t-and-b-cell-receptor-repertoire-data
#6
Hanna IJspeert, Pauline A van Schouwenburg, David van Zessen, Ingrid Pico-Knijnenburg, Andrew P Stubbs, Mirjam van der Burg
Antigen Receptor Galaxy (ARGalaxy) is a Web-based tool for analyses and visualization of TCR and BCR sequencing data of 13 species. ARGalaxy consists of four parts: the demultiplex tool, the international ImMunoGeneTics information system (IMGT) concatenate tool, the immune repertoire pipeline, and the somatic hypermutation (SHM) and class switch recombination (CSR) pipeline. Together they allow the analysis of all different aspects of the immune repertoire. All pipelines can be run independently or combined, depending on the available data and the question of interest...
April 17, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28414293/inherited-gins1-deficiency-underlies-growth-retardation-along-with-neutropenia-and-nk-cell-deficiency
#7
Julien Cottineau, Molly C Kottemann, Francis P Lach, Young-Hoon Kang, Frédéric Vély, Elissa K Deenick, Tomi Lazarov, Laure Gineau, Yi Wang, Andrea Farina, Marie Chansel, Lazaro Lorenzo, Christelle Piperoglou, Cindy S Ma, Patrick Nitschke, Aziz Belkadi, Yuval Itan, Bertrand Boisson, Fabienne Jabot-Hanin, Capucine Picard, Jacinta Bustamante, Céline Eidenschenk, Soraya Boucherit, Nathalie Aladjidi, Didier Lacombe, Pascal Barat, Waseem Qasim, Jane A Hurst, Andrew J Pollard, Holm H Uhlig, Claire Fieschi, Jean Michon, Vladimir P Bermudez, Laurent Abel, Jean-Pierre de Villartay, Frédéric Geissmann, Stuart G Tangye, Jerard Hurwitz, Eric Vivier, Jean-Laurent Casanova, Agata Smogorzewska, Emmanuelle Jouanguy
Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The association of neutropenia and NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow failures, was due to a blockade in the bone marrow and was mildly symptomatic. We discovered compound heterozygous rare mutations in Go-Ichi-Ni-San (GINS) complex subunit 1 (GINS1, also known as PSF1) in the 5 patients...
April 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28414062/novel-pik3cd-mutations-affecting-n-terminal-residues-of-p110%C3%AE-cause-apds1-in-humans
#8
Andrew J Takeda, Yu Zhang, Gillian L Dornan, Braden D Siempelkamp, Meredith L Jenkins, Helen F Matthews, Joshua J McElwee, Weimin Bi, Filiz O Seeborg, Helen C Su, John E Burke, Carrie L Lucas
APDS is a newly described and prevalent primary immunodeficiency disease, and we now expand the list of mutation sites to include E81K and G124D of p110δ and uncover an intramolecular mechanism of activation that is inhibited by clinically relevant targeting of p110δ.
April 13, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28412396/systems-approach-to-uncover-signaling-networks-in-primary-immunodeficiency-diseases
#9
Jeff Choi, Rosemary Fernandez, Holden T Maecker, Manish J Butte
This broad, unbiased approach of studying signaling across all circulating immune cells in healthy subjects allowed identification of disrupted signaling networks in patients with primary immunodeficiencies.
April 12, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28411962/epidemiology-and-pathophysiology-of-malignancy-in-common-variable-immunodeficiency
#10
REVIEW
A Tak Manesh, G Azizi, A Heydari, F Kiaee, M Shaghaghi, N Hossein-Khannazer, R Yazdani, H Abolhassani, A Aghamohammadi
Common variable immunodeficiency (CVID) is a diagnostic category of primary immunodeficiency (PID) which may present with heterogeneous disorders including recurrent infections, autoimmunity, granulomatous diseases, lymphoid and other types of malignancies. Generally, the incidence of malignancy in CVID patients is around 1.5-20.7% and usually occurs during the 4th-6th decade of life. Non-Hodgkin lymphoma is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix...
April 12, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28411176/hematopoietic-stem-cell-transplant-for-a-new-primary-immunodeficiency-disorder-a-voyage-where-no-transplant-physician-has-gone-before
#11
James A Connelly
No abstract text is available yet for this article.
April 11, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28404538/haematopoietic-stem-cell-transplantation-in-primary-immunodeficiency-patients-in-the-black-sea-region-of-turkey
#12
Alişan Yıldıran, Mehmet Halil Çeliksoy, Stephan Borte, Şükrü Nail Güner, Murat Elli, Tunç Fışgın, Emel Özyürek, Recep Sancak, Gönül Oğur
OBJECTIVE: Haematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. MATERIALS AND METHODS: We retrospectively reviewed paediatric cases that were diagnosed with primary immunodeficiencies and scheduled for haematopoietic stem cell transplantation. RESULTS: We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received haematopoietic stem cell transplantation...
April 13, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28403054/prevalence-of-cryptosporidium-carriage-and-disease-in-children-with-primary-immune-deficiencies-undergoing-hematopoietic-stem-cell-transplant-in-northern-europe
#13
MULTICENTER STUDY
Angharad P Davies, Mary Slatter, Andrew R Gennery, Guy Robinson, Nigel Crouch, Kristin Elwin, Stephen J Hadfield, Andrew J Cant, E Graham Davies, Rachel M Chalmers
A prospective cohort study of children with primary immunodeficiencies undergoing hematopoietic stem cell transplant in the United Kingdom investigated the extent and significance of Cryptosporidium carriage in this high risk group. Three of 42 children recruited were infected with Cryptosporidium, a lower proportion than previously described. One had serious disease. The underlying immunodeficiency likely had a bearing on the clinical presentation and possible outcome of infection.
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28400082/immune-dysregulation-in-immunodeficiency-disorders-the-role-of-t-cell-receptor-sequencing
#14
REVIEW
Gabriel K Wong, James M Heather, Sara Barmettler, Mark Cobbold
Immune dysregulation is a prominent feature of primary immunodeficiency disorders, which commonly manifested as autoimmunity, cytopenias and inflammatory bowel disease. In partial T-cell immunodeficiency disorders, it has been proposed that the imbalance between effector and regulatory T-cells drives the breakdown of peripheral tolerance. While there is no robust test for immune dysregulation, the T-cell receptor repertoire is used as a surrogate marker, and has been shown to be perturbed in a number of immunodeficiency disorders featuring immune dysregulation including Omenn's Syndrome, Wiskott-Aldrich Syndrome, and common variable immunodeficiency...
April 8, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28395106/primary-congenital-immunodeficiency-2015-sh-eahp-workshop-report-part-5
#15
Dita Gratzinger, Elaine S Jaffe, Amy Chadburn, John K C Chan, Daphne de Jong, John R Goodlad, Jonathan Said, Yasodha Natkunam
Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations. Methods: Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies. Results: Autoimmune lymphoproliferative syndrome (ALPS) is a prototypical immune dysregulation-type immunodeficiency, with defects in T-cell signaling or apoptosis, expansion of T-cell subsets, and predisposition to hemophagocytic lymphohistiocytosis...
February 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28392333/outcome-of-hematopoietic-cell-transplantation-for-dna-double-strand-breakage-repair-disorders
#16
James Slack, Michael H Albert, Dmitry Balashov, Bernd H Belohradsky, Alice Bertaina, Jack Bleesing, Claire Booth, Jochen Büchner, Rebecca H Buckley, Marie Ouachée-Chardin, Elena Deripapa, Katarzyna Drabko, Mary Eapen, Tobias Feuchtinger, Andrea Finocchi, H Bobby Gaspar, Sujal Ghosh, Alfred Gillio, Luis I Gonzalez-Granado, Eyal Grunebaum, Tayfun Güngör, Carsten Heilmann, Merja Helminen, Kohei Higuchi, Kohsuke Imai, Krzysztof Kalwak, Nubuo Kanazawa, Gülsün Karasu, Zeynep Y Kucuk, Alexandra Laberko, Andrzej Lange, Nizar Mahlaoui, Roland Meisel, D Moshous, Hideki Muramatsu, Suhag Parikh, Srdjan Pasic, Irene Schmid, Catharina Schuetz, Ansgar Schulz, Kirk R Schultz, Peter J Shaw, Mary A Slatter, Karl-Walter Sykora, Shinobu Tamura, Mervi Taskinen, Angela Wawer, Beata Wolska-Kus Nierz, Morton J Cowan, Alain Fischer, Andrew R Gennery
BACKGROUND: Rare DNA breakage-repair disorders predispose to infection and lympho-reticular malignancies. Hematopoietic cell transplantation (HCT) is curative but co-administered chemo- or radio-therapy is damaging due to systemic radio-sensitivity. We collected HCT outcome data for Nijmegen Breakage syndrome (NBS), DNA ligase IV deficiency (LIG4), Cernunnos-XLF deficiency and ataxia-telangiectasia. METHODS: Data from 38 centres worldwide, including indication, donor, conditioning regimen, graft-versus-host disease (GvHD) and outcome were analyzed...
April 6, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28388605/refining-strategies-to-translate-genome-editing-to-the-clinic
#17
REVIEW
Tatjana I Cornu, Claudio Mussolino, Toni Cathomen
Recent progress in developing programmable nucleases, such as zinc-finger nucleases, transcription activator-like effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeat (CRISPR)-Cas nucleases, have paved the way for gene editing to enter clinical practice. This translation is a result of combining high nuclease activity with high specificity and successfully applying this technology in various preclinical disease models, including infectious disease, primary immunodeficiencies, hemoglobinopathies, hemophilia and muscular dystrophy...
April 3, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28385331/generalized-verrucosis-and-abnormal-t-cell-activation-due-to-homozygous-taok2-mutation
#18
Vered Molho-Pessach, Yuval Ramot, Maxim Mogilevsky, Leonor Cohen-Daniel, Eli M Eisenstein, Abdulsalam Abu-Libdeh, Ihab Siam, Michael Berger, Rotem Karni, Abraham Zlotogorski
BACKGROUND: Generalized verrucosis (GV) is a chronic and progressive cutaneous human papillomavirus (HPV) infection resulting in multiple warts and associated with acquired or genetic immune defects. We identified a consanguineous Arab family manifesting GV and recurrent bacterial and viral infections, in association with inflammatory bowel disease (IBD). OBJECTIVE: To identify the mutated gene responsible for GV, recurrent infections and IBD, in this family. METHODS: Flow cytometry of peripheral blood mononuclear cells was performed, as well as proliferation and cell cycle assays of T cells...
March 27, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28383134/in-vitro-t-lymphocyte-proliferation-by-carboxyfluorescein-diacetate-succinimidyl-ester-method-is-helpful-in-diagnosing-and-managing-primary-immunodeficiencies
#19
Elif Azarsiz, Neslihan Karaca, Birgul Ergun, Mehmet Durmuscan, Necil Kutukculer, Guzide Aksu
BACKGROUND: Functional studies besides routine laboratory tests for the definitive diagnosis of T lymphocyte disorders with isolated T or combined T/B-cell immunodeficiencies are important. We hereby summarized our experience with a carboxyfluorescein diacetate succinimidyl ester (CFSE)-based assay for the assessment of mitogenic T-cell proliferation responses in primary immunodeficiency (PID) patients who have not been diagnosed yet or genetically analyzed, but classified as probably having T-cell defects...
April 6, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28377772/treatment-of-pediatric-acute-graft-versus-host-disease-lessons-from-primary-immunodeficiency
#20
REVIEW
Aisling M Flinn, Andrew R Gennery
Allogeneic hematopoietic stem cell transplant (HSCT) is used to treat increasing numbers of malignant and non-malignant disorders. Despite significant advances in improved human leukocyte antigens-typing techniques, less toxic conditioning regimens and better supportive care, resulting in improved clinical outcomes, acute graft-versus-host disease (aGvHD) continues to be a major obstacle and, although it principally involves the skin, gastrointestinal tract, and liver, the thymus is also a primary target. An important aim following HSCT is to achieve complete and durable immunoreconstitution with a diverse T-cell receptor (TCR) repertoire to recognize a broad range of pathogens providing adequate long-term adaptive T-lymphocyte immunity, essential to reduce the risk of infection, disease relapse, and secondary malignancies...
2017: Frontiers in Immunology
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