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Common variable immunodeficiency

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https://www.readbyqxmd.com/read/28337685/type-iii-hypersensitivity-reaction-to-subcutaneous-insulin-preparations-in-a-type-1-diabetic
#1
Benjamin R Murray, Jolene R Jewell, Kyle J Jackson, Olabunmi Agboola, Brianna R Alexander, Poonam Sharma
Management of type 1 diabetes in patients who have insulin hypersensitivity is a clinical challenge and places patients at risk for recurrent diabetic ketoacidosis (DKA). Hypersensitivity reactions can be due to the patient's response to the insulin molecule itself or one of the injection's non-insulin components. It is therefore crucial for clinicians to quickly recognize the type of hypersensitivity reaction that is occurring and identify potentially immunogenic additives for the purpose of directing therapy as various insulin preparations have differing ingredients...
March 23, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28333242/successful-treatment-of-common-variable-immunodeficiency-associated-inflammatory-bowel-disease-with-ustekinumab
#2
Jose G Ruiz de Morales, Fernando Muñoz, Mercedes Hernando
No abstract text is available yet for this article.
February 17, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28324805/limited-role-of-interferon-kappa-ifnk-truncating-mutations-in-common-variable-immunodeficiency
#3
Faranaz Atschekzei, Thilo Dörk, Peter Schürmann, Robert Geffers, Torsten Witte, Reinhold E Schmidt
We used whole exome sequencing to determine the genetic background of CVID in two non-consanguineous German families. We identified IFNK (interferon-kappa) as the only candidate gene that harbored truncating mutations in affected members from both families. One family segregated c.30_31insTGTT, a known frameshift variant, while the other family segregated the novel IFNK mutation p.K199X that creates a premature stop codon. We sequenced the whole coding region of IFNK in a further series of 167 CVID patients and 192 healthy controls...
March 18, 2017: Cytokine
https://www.readbyqxmd.com/read/28323147/increase-of-circulating-%C3%AE-4%C3%AE-7-conventional-memory-cd4-and-regulatory-t-cells-in-patients-with-common-variable-immunodeficiency-cvid
#4
Karina Mescouto de Melo, Susanne Unger, Baerbel Keller, Sylvia Gutenberger, Ina Stumpf, Sigune Goldacker, Klaus Warnatz
This study investigated whether circulating α4β7(+) expressing T cells could serve as a potential marker for gastrointestinal (GI) disease activity in patients with CVID. The analysis of α4β7(+) T cells in the peripheral blood of 36 patients and 22 healthy donors (HD) revealed increased percentages of α4β7(+) conventional memory CD4 T cells and Tregs, but not among CD8 T-cell populations in patients with CVID compared to HD. No differences between patients with and without chronic or acute GI symptoms were observed...
March 17, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28298291/plasmablast-response-to-primary-rhesus-cytomegalovirus-infection-in-a-monkey-model-of-congenital-cmv-transmission
#5
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/28289412/follicular-t-cells-from-smb-common-variable-immunodeficiency-patients-are-skewed-toward-a-th1-phenotype
#6
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/28284485/abnormality-of-regulatory-t-cells-in-common-variable-immunodeficiency
#7
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/28254202/predictors-of-granulomatous-lymphocytic-interstitial-lung-disease-in-common-variable-immunodeficiency
#8
Stella Hartono, Megan S Motosue, Shakila Khan, Vilmarie Rodriguez, Vivek N Iyer, Rohit Divekar, Avni Y Joshi
BACKGROUND: A subset of patients with common variable immunodeficiency (CVID) develop granulomatous lymphocytic interstitial lung disease (GLILD), which is associated with early mortality. OBJECTIVE: To determine a set of clinical and/or laboratory parameters that correlate with GLILD. METHODS: A retrospective, nested case-control (patients with CVID diagnosed with GLILD compared with patients with CVID without a diagnosis of GLILD) medical record review was undertaken at Mayo Clinic, Rochester, MN...
February 18, 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28240614/diagnostic-and-therapeutic-considerations-in-patients-with-hypogammaglobulinemia-after-rituximab-therapy
#9
Ruba Kado, Georgiana Sanders, W Joseph McCune
PURPOSE OF REVIEW: There are no established guidelines for evaluating and treating hypogammaglobulinemia in patients with rheumatic disease who receive B-cell depleting agents. The purpose of this article is to review findings in the work-up and treatment of common variable immunodeficiency (CVID) that can guide our evaluation of patients with autoimmune disease who develop hypogammaglobulinemia after rituximab/B-cell depleting therapy. RECENT FINDINGS: Infection rates are higher in rheumatic disease patients who develop hypogammaglobulinemia than those who do not...
February 24, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28240280/erratum-common-variable-immunodeficiency-patients-with-a-phenotypic-profile-of-immunosenescence-present-with-thrombocytopenia
#10
Jan Stuchlý, Veronika Kanderová, Marcela Vlková, Ivana Heřmanová, Lucie Slámová, Ondřej Pelák, Eli Taraldsrud, Dalibor Jílek, Pavlína Králíčková, Børre Fevang, Marie Trková, Ondřej Hrušák, Eva Froňková, Anna Šedivá, Jiří Litzman, Tomáš Kalina
No abstract text is available yet for this article.
February 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28236292/the-role-of-genomics-in-common-variable-immunodeficiency-disorders
#11
REVIEW
Anne-Kathrin Kienzler, Chantal E Hargreaves, Smita Y Patel
The advent of next generation sequencing (NGS) and 'omic' technologies has revolutionised the field of genetics and its implementation in healthcare has the potential to realise precision medicine. Primary immunodeficiencies (PID) are a group of rare diseases which have benefitted from NGS, with a massive increase in causative genes identified in the past few years. Common Variable Immunodeficiency Disorders (CVID) are a heterogeneous form of PID and the most common form of antibody failure in children and adults...
February 25, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28219603/acute-rejection-of-a-kidney-transplant-in-a-patient-with-common-variable-immunodeficiency-a-case-report
#12
O Al Nimri, A Rajput, E Martinez, J M Fahrenholz, P Paueksakon, A Langone, B P Concepcion
Common variable immunodeficiency is a primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. We report a case of a 44-year-old male patient with end-stage renal disease and an established diagnosis of common variable immunodeficiency who underwent a living unrelated kidney transplant. He remained nearly infection free on maintenance immunoglobulin replacement. However, his posttransplant course was complicated by acute rejection that ultimately led to allograft loss...
March 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28213870/molecular-characterization-of-bovine-leukemia-virus-from-moldovan-dairy-cattle
#13
Aneta Pluta, Marzena Rola-Łuszczak, Piotr Kubiś, Svetlana Balov, Roman Moskalik, Bhudipa Choudhury, Jacek Kuźmak
Bovine leukemia virus (BLV) is the causative agent of enzootic bovine leukosis (EBL), a disease that has worldwide distribution. Whilst it has been eradicated in most of Western Europe and Scandinavia, it remains a problem in other regions, particularly Eastern Europe and South America. For this study, in 2013, 24 cattle from three farms in three regions of Moldova were screened by ELISA and nested PCR. Of these cattle, 14 which were PCR positive, and these were molecularly characterized based on the nucleotide sequence of the env gene and the deduced amino acid sequence of the encoded gp51 protein...
February 17, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28212436/antibody-deficiency-in-patients-with-frequent-exacerbations-of-chronic-obstructive-pulmonary-disease-copd
#14
Brian N McCullagh, Alejandro P Comellas, Zuhair K Ballas, John D Newell, M Bridget Zimmerman, Antoine E Azar
Chronic Obstructive Pulmonary Disease is the third leading cause of death in the US, and is associated with periodic exacerbations, which account for the largest proportion of health care utilization, and lead to significant morbidity, mortality, and worsening lung function. A subset of patients with COPD have frequent exacerbations, occurring 2 or more times per year. Despite many interventions to reduce COPD exacerbations, there is a significant lack of knowledge in regards to their mechanisms and predisposing factors...
2017: PloS One
https://www.readbyqxmd.com/read/28202457/gain-of-function-samd9l-mutations-cause-a-syndrome-of-cytopenia-immunodeficiency-mds-and-neurological-symptoms
#15
Bianca Tesi, Josef Davidsson, Matthias Voss, Elisa Rahikkala, Tim D Holmes, Samuel C C Chiang, Jonna Komulainen-Ebrahim, Sorina Gorcenco, Alexandra Rundberg Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan-Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T Bryceson
Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been identified. We studied two families with cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction. Genetic studies uncovered heterozygous missense mutations in SAMD9L, a tumor suppressor gene located on chromosome arm 7q. Consistent with a gain-of-function effect, ectopic expression of the two identified SAMD9L mutants decreased cell proliferation relative to wild-type protein...
February 15, 2017: Blood
https://www.readbyqxmd.com/read/28199798/the-hotel-study-clinical-and-health-service-effectiveness-in-a-cohort-of-homeless-or-marginally-housed-persons
#16
William G Honer, Alejandro Cervantes-Larios, Andrea A Jones, Fidel Vila-Rodriguez, Julio S Montaner, Howard Tran, Jimmy Nham, William J Panenka, Donna J Lang, Allen E Thornton, Talia Vertinsky, Alasdair M Barr, Ric M Procyshyn, Geoffrey N Smith, Tari Buchanan, Mel Krajden, Michael Krausz, G William MacEwan, Kristina M Gicas, Olga Leonova, Verena Langheimer, Alexander Rauscher, Krista Schultz
OBJECTIVE: The Hotel Study was initiated in Vancouver's Downtown East Side (DTES) neighborhood to investigate multimorbidity in homeless or marginally housed people. We evaluated the clinical effectiveness of existing, illness-specific treatment strategies and assessed the effectiveness of health care delivery for multimorbid illnesses. METHOD: For context, we mapped the housing locations of patients presenting for 552,062 visits to the catchment hospital emergency department (2005-2013)...
January 1, 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/28192236/diagnosis-of-primary-antibody-and-complement-immunodeficiencies-in-young-adults-after-a-first-invasive-bacterial-infection
#17
Sébastien Sanges, Frédéric Wallet, Nicolas Blondiaux, Didier Theis, Isabelle Verin, Anne Vachée, Rodrigue Dessein, Karine Faure, Nathalie Viget, Eric Senneville, Olivier Leroy, Fleur Maury, Nicolas Just, Julien Poissy, Daniel Mathieu, Anne Prévotat, Cécile Chenivesse, Arnaud Scherpereel, Grégoire Smith, Benjamin Lopez, Jérémie Rosain, Véronique Fremeaux-Bacchi, Eric Hachulla, Pierre-Yves Hatron, Mathilde Bahuaud, Frédéric Batteux, David Launay, Myriam Labalette, Guillaume Lefèvre
OBJECTIVES: Screening for primary immunodeficiencies (PIDs) in adults is recommended after two severe bacterial infections. We aimed to evaluate if screening should be performed after the first invasive infection in young adults. METHODS: Eligible patients were retrospectively identified using hospital discharge and bacteriology databases in 3 centers during a 3-year period. Eighteen to forty year-old patients were included if they had experienced an invasive infection with encapsulated bacteria commonly encountered in PIDs (Streptococcus pneumoniae (SP), Neisseria meningitidis (NM), Neisseria gonorrhoeae (NG), Haemophilus influenzae (HI) or group A Streptococcus (GAS))...
February 10, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28192146/autoimmune-and-inflammatory-manifestations-occur-frequently-in-patients-with-primary-immunodeficiencies
#18
Alain Fischer, Johan Provot, Jean-Philippe Jais, Alexandre Alcais, Nizar Mahlaoui
BACKGROUND: Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation. OBJECTIVE: We aimed at determining the incidence of autoimmunity and inflammation in patients with PIDs. METHODS: We have retrospectively screened 2183 consecutive cases of PID in the Centre de Référence Déficits Immunitaires Héréditaires registry (CEREDIH; the French national PID registry) for the occurrence of autoimmunity and inflammation...
February 10, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28188718/-hematopoietic-stem-cells-transplant-in-patients-with-common-variable-immunodeficiency-is-a-therapeutic-option
#19
Julio César Cambray-Gutiérrez, Diana Andrea Herrera-Sánchez, Patricia López-Pérez, Aurora Chávez-García, Marco Antonio Yamazaki-Nakashimada
BACKGROUND: Patients with common variable immunodeficiency show higher incidence of sinopulmonary and gastrointestinal infections, as well as lymphoproliferative and autoimmune diseases. The treatment of choice is replacement therapy with human gamma-globulin. Hematopoietic stem cell transplantation is a non-conventional therapeutic modality. CASE REPORT: Twenty-six-year old woman with no family or hereditary history of primary immune deficiencies or consanguinity, with repeated episodes of otitis, sinusitis, gastroenteritis and bronchitis since childhood...
January 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28188716/-immunological-alterations-in-common-variable-immunodeficiency
#20
Laura Berrón-Ruiz
Common variable immunodeficiency (CVID) is the largest group of symptomatic primary immune deficiencies; it is characterized by hypogammaglobulinemia, poor response to vaccines and increased susceptibility to infections. Cellular phenotypes and abnormalities have been described both in adaptive and innate immune response. Several classifications of common variable immunodeficiency are based on defects found on T and B cells, which have been correlated with clinical manifestations. In recent years, significant progress has been made in elucidating the genetic mechanisms that result in a IDCV phenotype...
January 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
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