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Primary Immunodeficiency

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https://www.readbyqxmd.com/read/28437620/american-association-of-clinical-endocrinologists-and-american-college-of-endocrinology-guidelines-for-management-of-dyslipidemia-and-prevention-of-cardiovascular-disease
#1
Paul S Jellinger, Yehuda Handelsman, Paul D Rosenblit, Zachary T Bloomgarden, Vivian A Fonseca, Alan J Garber, George Grunberger, Chris K Guerin, David S H Bell, Jeffrey I Mechanick, Rachel Pessah-Pollack, Kathleen Wyne, Donald Smith, Eliot A Brinton, Sergio Fazio, Michael Davidson
OBJECTIVE: The development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and American College of Endocrinology (ACE) Board of Trustees and adheres with published AACE protocols for the standardized production of clinical practice guidelines (CPGs). METHODS: Recommendations are based on diligent reviews of the clinical evidence with transparent incorporation of subjective factors, according to established AACE/ACE guidelines for guidelines protocols...
April 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28435820/costs-of-hospital-admission-on-primary-immunodeficiency-diseases
#2
Kheirollah Gholami, Elaheh Laali, Hassan Abolhassani, Alireza Ahmadvand, Niayesh Mohebbi, Mohammad Reza Javadi, Asghar Aghamohammadi, Nima Rezaei
BACKGROUND: Primary immunodeficiency diseases (PID) are heterogeneous group of inherited disorders mainly characterized by recurrent infections leading to several times hospital admissions. The economic impact of PID is a challenging issue; therefore, this study was designed to determine the medical costs of hospitalizations in this group of patients as an indicator of the direct cost of these diseases. METHODS: One hundred and ten children with PID hospitalized in the Children's Medical Center Hospital, Tehran, Iran were included in this study during Jan 2011 and Jan 2012...
March 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28433605/stability-of-patient-specific-features-of-altered-dna-replication-timing-in-xenografts-of-primary-human-acute-lymphoblastic-leukemia
#3
Takayo Sasaki, Juan Carlos Rivera-Mulia, Daniel Vera, Jared Zimmerman, Sunny Das, Michelle Padget, Naoto Nakamichi, Bill H Chang, Jeff Tyner, Brian J Druker, Andrew P Weng, Curt I Civin, Connie J Eaves, David M Gilbert
Genome-wide DNA replication timing (RT) profiles reflect the global 3D chromosome architecture of cells. They also provide a comprehensive and unique megabase-scale picture of the cellular epigenetic state. Thus normal differentiation involves reproducible changes in RT and transformation generally perturbs these, although the potential effects of altered RT on the properties of transformed cells remain largely unknown. A major challenge to interrogating these issues in human acute lymphoid leukemia (ALL) is the low proliferative activity of most of the cells, which may be further reduced in cryopreserved samples and difficult to overcome in vitro...
April 19, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28433201/humoral-primary-immunodeficiency-diseases-clinical-overview-and-chest-high-resolution-computed-tomography-hrct-features-in-the-adult-population
#4
REVIEW
L Cereser, R Girometti, P d'Angelo, M De Carli, A De Pellegrin, C Zuiani
Humoral primary immunodeficiency diseases (hPIDs) are a heterogeneous group of hereditary disorders resulting in abnormal susceptibility to infections of the sinopulmonary tract. Some of these conditions (e.g., common variable immunodeficiency disorders [CVID]) imply a number of non-infectious thoracic complications such as non-infectious airway disorders, diffuse lung parenchymal diseases, and neoplasms. Chest high-resolution computed tomography (HRCT) is a key imaging tool to characterise and quantify the extent of underlying thoracic involvement, as well as to direct and monitor treatment...
April 19, 2017: Clinical Radiology
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
#5
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/28429103/resolution-of-primary-immune-defect-in-22q11-2-deletion-syndrome
#6
Yiwa Suksawat, Achara Sathienkijkanchai, Jittima Veskitkul, Orathai Jirapongsananuruk, Nualanong Visitsunthorn, Pakit Vichyanond, Punchama Pacharn
PURPOSE: Patients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery among patients with 22q11.2 deletion syndrome. METHODS: Patients with 22q11.2 deletion syndrome diagnosed by fluorescence in situ hybridization (FISH) were studied. Immunological parameters were evaluated every 6 months until patients returned to normal...
April 20, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28425252/allergic-and-autoimmune-disorders-in-families-with-selective-iga-deficiency
#7
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
#8
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/28424283/simian-immunodeficiency-virus-targeting-of-cxcr3-cd4-t-cells-in-secondary-lymphoid-organs-is-associated-with-robust-cxcl10-expression-in-monocyte-macrophage-subsets
#9
Masayuki Fujino, Hirotaka Sato, Tomotaka Okamura, Akihiko Uda, Satoshi Takeda, Nursarat Ahmed, Shigeyuki Shichino, Teiichiro Shiino, Yohei Saito, Satoru Watanabe, Chie Sugimoto, Marcelo Kuroda, Manabu Ato, Yoshiyuki Nagai, Shuji Izumo, Kouji Matsushima, Masaaki Miyazawa, Aftab A Ansari, Francois Villinger, Kazuyasu Mori
Glycosylation of Env defines pathogenic properties of SIV. We previously demonstrated that pathogenic SIVmac239 and live-attenuated, quintuple deglycosylated Env mutant (Δ5G) target CD4(+) T cells residing in different tissues during acute infection. SIVmac239 and Δ5G preferentially infected distinct CD4(+) T cells in secondary lymphoid organs (SLOs) and within the lamina propria of the small intestine, respectively (C. Sugimoto et al., J Virol 86:9323-9336, 2012). Herein, we studied the host responses relevant to SIV targeting of CXCR3(+)CCR5(+) CD4(+) T cells in SLOs...
April 19, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28423509/histone-lysine-methyltransferase-g9a-is-a-novel-epigenetic-target-for-the-treatment-of-hepatocellular-carcinoma
#10
Masayuki Yokoyama, Tetsuhiro Chiba, Yoh Zen, Motohiko Oshima, Yuko Kusakabe, Yoshiko Noguchi, Kaori Yuki, Shuhei Koide, Shiro Tara, Atsunori Saraya, Kazumasa Aoyama, Naoya Mimura, Satoru Miyagi, Masanori Inoue, Toru Wakamatsu, Tomoko Saito, Sadahisa Ogasawara, Eiichiro Suzuki, Yoshihiko Ooka, Akinobu Tawada, Masayuki Otsuka, Masaru Miyazaki, Osamu Yokosuka, Atsushi Iwama
Histone H3 lysine 9 dimethylation (H3K9me2) is mainly regulated by the histone lysine methyltransferase G9a and is associated with the repression of transcription. However, both the role of G9a and the significance of H3K9me2 in hepatocellular carcinoma (HCC) cells remain unclear. In this study, we conducted loss-of-function assay of G9a using short-hairpin RNA and pharmacological interference. Knockdown of G9a reduced H3K9me2 levels and impaired both HCC cell growth and sphere formation. However, transforming growth factor β1-induced epithelial mesenchymal transition (EMT) was not suppressed by G9a knockdown...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422000/fibromyalgia-in-300-adult-index-patients-with-primary-immunodeficiency
#11
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
#12
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/28419204/immune-serum-from-sabin-inactivated-poliovirus-vaccine-immunization-neutralizes-multiple-individual-wild-and-vaccine-derived-polioviruses
#13
Mingbo Sun, Changgui Li, Wenbo Xu, Guoyang Liao, Rongcheng Li, Jian Zhou, Yanping Li, Wei Cai, Dongmei Yan, Yanchun Che, Zhifang Ying, Jianfeng Wang, Huijuan Yang, Yan Ma, Lei Ma, Guang Ji, Li Shi, Shude Jiang, Qihan Li
Background.: A Sabin strain-based inactivated poliomyelitis vaccine (Sabin-IPV) is the rational option for completely eradicating poliovirus transmission. The neutralizing capacity of Sabin-IPV immune serum to different strains of poliovirus is a key indicator of the clinical protective efficacy of this vaccine. Methods.: Sera collected from 500 infants enrolled in a randomized, blinded, positive control, phase 2 clinical trial were randomly divided into 5 groups: Groups A, B, and C received high, medium, and low doses, respectively, of Sabin-IPV, while groups D and E received trivalent oral polio vaccine and Salk strain-based IPV, respectively, all on the same schedule...
April 13, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28418524/evaluating-testing-strategies-for-identifying-youths-with-hiv-infection-and-linking-youths-to-biomedical-and-other-prevention-services
#14
Robin Lin Miller, Cherrie B Boyer, Danielle Chiaramonte, Peter Lindeman, Kate Chutuape, Bendu Cooper-Walker, Bill G Kapogiannis, Craig M Wilson, J Dennis Fortenberry
Importance: Most human immunodeficiency virus (HIV)-infected youths are unaware of their serostatus (approximately 60%) and therefore not linked to HIV medical or prevention services. The need to identify promising and scalable approaches to promote uptake of HIV testing among youths at risk is critical. Objective: To evaluate a multisite HIV testing program designed to encourage localized HIV testing programs focused on self-identified sexual minority males and to link youths to appropriate prevention services after receipt of their test results...
April 17, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28418072/myb-gata1-fusion-promotes-basophilic-leukaemia-involvement-of-il33-and-nerve-growth-factor-receptors
#15
Stéphane Ducassou, Valérie Prouzet-Mauléon, Marie-Céline Deau, Philippe Brunet de la Grange, Bruno Cardinaud, Hayssam Soueidan, Cathy Quelen, Pierre Brousset, Jean-Max Pasquet, François Moreau-Gaudry, Michel Arock, François-Xavier Mahon, Eric Lippert
Acute basophilic leukaemia (ABL) is a rare subtype of acute myeloblastic leukaemia. We previously described a recurrent t(X;6)(p11;q23) translocation generating a MYB-GATA1 fusion gene in male infants with ABL. To better understand its role, the chimeric MYB-GATA1 transcription factor was expressed in CD34-positive hematopoietic progenitors which were transplanted into immunodeficient mice. Cells expressing MYB-GATA1 showed increased expression of markers of immaturity (CD34), of granulocytic lineage (CD33, CD117) and of basophilic differentiation (CD203c, FcƐRI)...
April 18, 2017: Journal of Pathology
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
#16
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
#17
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
#18
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
#19
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
#20
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
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