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Common variable immunodeficiency

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https://www.readbyqxmd.com/read/28429103/resolution-of-primary-immune-defect-in-22q11-2-deletion-syndrome
#1
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/28422000/fibromyalgia-in-300-adult-index-patients-with-primary-immunodeficiency
#2
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/28411962/epidemiology-and-pathophysiology-of-malignancy-in-common-variable-immunodeficiency
#3
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/28400082/immune-dysregulation-in-immunodeficiency-disorders-the-role-of-t-cell-receptor-sequencing
#4
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
#5
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/28370285/identification-and-characterization-of-a-nationwide-danish-adult-common-variable-immunodeficiency-cohort
#6
Lena Westh, Trine Hyrup Mogensen, Lars Skov Dalgaard, Jens Magnus Bernth Jensen, Terese Katzenstein, Ann-Brit Eg Hansen, Olav Ditlevsen Larsen, Steen Terpling, Thyge Lynghøj Nielsen, Carsten Schade Larsen
In this study we identified all adults living in Denmark diagnosed with common variable immunodeficiency (CVID) and characterized them according to clinical presentation and EUROclass classification. Using a retrospective, cross-sectional design, possible CVID patients were identified in the Danish National Patient Register and Centers in Denmark treating patients with primary immunodeficiencies. The CVID diagnosis was verified by review of medical records. One-hundred-seventy-nine adults with CVID were identified...
April 2, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28363198/hemostatic-changes-associated-with-increased-mortality-rates-in-hospitalized-patients-with-hiv-associated-tuberculosis-a-prospective-cohort-study
#7
Saskia Janssen, Charlotte Schutz, Amy M Ward, Mischa A M Huson, Robert J Wilkinson, Rosie Burton, Gary Maartens, Katalin A Wilkinson, Joost C M Meijers, René Lutter, Martin P Grobusch, Graeme Meintjes, Tom van der Poll
Background: Mortality rates remain high for human immunodeficiency virus (HIV)-associated tuberculosis, and our knowledge of contributing mechanisms is limited. We aimed to determine whether hemostatic changes in HIV-tuberculosis were associated with mortality or decreased survival time and the contribution of mycobacteremia to these effects. Methods: We conducted a prospective study in Khayelitsha, South Africa, in hospitalized HIV-infected patients with CD4 cell counts <350/µL and microbiologically proved tuberculosis...
January 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28361789/vaccine-associated-paralytic-poliomyelitis-unmasking-common-variable-immunodeficiency
#8
Sunil Gomber, Vanny Arora, Pooja Dewan
BACKGROUND: Oral polio vaccine can rarely lead to Vaccine-associated paralytic poliomyelitis (VAPP). CASE CHARACTERISTICS: A 2-year-old child with asymmetric paralysis of lower limbs following first booster of oral polio vaccine; type 2 Vaccine-derived poliovirus (VDPV) isolated. Subsequently, the child was diagnosed to have common variable immunodeficiency. OUTCOME: Paralysis gradually improved on follow-up; monthly intravenous immunoglobulin therapy started for primary immunodeficiency...
March 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28357189/griscelli-syndrome-subtype-2-with-hemophagocytic-lympho-histiocytosis-a-case-report-and-review-of-literature
#9
Priyanka Minocha, Richa Choudhary, Anika Agrawal, Sadasivan Sitaraman
Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes MYO5A, RAB27A, MLPH are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. We hereby report a 20 month old male child presenting with silvery gray hair, hypomelanosis and features of hemophagocytosis...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28356913/posterior-cord-syndrome-and-trace-elements-deficiency-as-an-uncommon-presentation-of-common-variable-immunodeficiency
#10
Yuri Silva Macedo, Ananda Dos Santos Mota, Priscila Morais Monteiro, Angela Cristina Gouvêa Carvalho, Barbara Fernandes Diniz, Pedro Gemal Lanzieri, Ricardo Carneiro Ramos, Luis Otavio Mocarzel, Ronaldo Altenburg Gismondi
Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc)...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28351785/british-lung-foundation-united-kingdom-primary-immunodeficiency-network-consensus-statement-on-the-definition-diagnosis-and-management-of-granulomatous-lymphocytic-interstitial-lung-disease-in-common-variable-immunodeficiency-disorders
#11
REVIEW
John R Hurst, Nisha Verma, David Lowe, Helen E Baxendale, Stephen Jolles, Peter Kelleher, Hilary J Longhurst, Smita Y Patel, Elisabetta A Renzoni, Clare R Sander, Gerard R Avery, Judith L Babar, Matthew S Buckland, Siobhan Burns, William Egner, Mark M Gompels, Pavels Gordins, Jamanda A Haddock, Simon P Hart, Grant R Hayman, Richard Herriot, Rachel K Hoyles, Aarnoud P Huissoon, Joseph Jacob, Andrew G Nicholson, Doris M Rassl, Ravishankar B Sargur, Sinisa Savic, Suranjith L Seneviratne, Michael Sheaff, Prashantha M Vaitla, Gareth I Walters, Joanna L Whitehouse, Penny A Wright, Alison M Condliffe
A proportion of people living with common variable immunodeficiency disorders develop granulomatous-lymphocytic interstitial lung disease (GLILD). We aimed to develop a consensus statement on the definition, diagnosis, and management of GLILD. All UK specialist centers were contacted and relevant physicians were invited to take part in a 3-round online Delphi process. Responses were graded as Strongly Agree, Tend to Agree, Neither Agree nor Disagree, Tend to Disagree, and Strongly Disagree, scored +1, +0...
March 25, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28350748/short-article-mortality-and-differential-diagnoses-of-villous-atrophy-without-coeliac-antibodies
#12
Annalisa Schiepatti, Federico Biagi, Giacomo Fraternale, Claudia Vattiato, Davide Balduzzi, Simona Agazzi, Claudia Alpini, Catherine Klersy, Gino R Corazza
OBJECTIVE: Villous atrophy (VA) of the small bowel is mainly related to coeliac disease (CD), whose diagnosis is made on the basis of positive endomysial/tissue transglutaminase antibodies while on a gluten-containing diet in the vast majority of patients. However, VA can also occur in other conditions whose epidemiology is little known. Our aim was to study the epidemiology and clinical features of these rare enteropathies. PATIENTS AND METHODS: Clinical and laboratory data of all the patients with VA directly diagnosed in our centre in the last 15 years were collected and statistically analysed...
May 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28347823/delay-in-diagnosis-affects-the-clinical-outcome-in-a-cohort-of-cvid-patients-with-marked-reduction-of-iga-serum-levels
#13
Vincenzo Graziano, Antonio Pecoraro, Ilaria Mormile, Giuseppe Quaremba, Arturo Genovese, Claudio Buccelli, Mariano Paternoster, Giuseppe Spadaro
Common variable immunodeficiency disorders (CVID) represent a collection of diseases leading to an absent or strongly impaired antibody production. CVID presents a wide range of immunological abnormalities and clinical manifestations, including infections, inflammatory and autoimmune diseases, and malignancies. The aim of this observational study was to analyze the epidemiological and clinical features of a cohort of 75 Italian CVID patients, and evaluate the correlation with comorbidity and mortality. Clinical data were retrospectively collected: the cohort was followed-up for a maximum of 30years (mean time of 10...
March 25, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28345437/clinical-profile-dosing-and-quality-of-life-outcomes-in-primary-immune-deficiency-patients-treated-at-home-with-immunoglobulin-g-data-from-the-ideal-patient-registry
#14
Sean Kearns, Loretta Kristofek, William Bolgar, Luqman Seidu, Samantha Kile
BACKGROUND: Patients with primary immune deficiency (PID) often require immunoglobulin G (IgG, commonly referred to as Ig) replacement therapy to prevent infections and associated comorbidities. Ig therapy can be given either through intravenous or subcutaneous routes, and both can be done in the home setting. There is limited information available on the real-world diagnosis, management, and outcomes of this patient population, given the variable disease presentation and treatment options...
April 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28337685/type-iii-hypersensitivity-reaction-to-subcutaneous-insulin-preparations-in-a-type-1-diabetic
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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