نتایج جستجو برای: CVID

تعداد نتایج: 525  

Journal: :Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2015
Marion Malphettes Laurence Gérard Lionel Galicier David Boutboul Bouchra Asli Raphael Szalat Antoinette Perlat Agathe Masseau Nicolas Schleinitz Guillaume Le Guenno Jean-François Viallard Bernard Bonnotte Marie-Françoise Thiercelin-Legrand Laurence Sanhes Raphael Borie Sophie Georgin-Lavialle Claire Fieschi Eric Oksenhendler

BACKGROUND Good syndrome (GS) is a rare condition in which thymoma is associated with hypogammaglobulinemia. It is characterized by increased susceptibility to bacterial, viral, and fungal infections, as well as autoimmunity. Most patients have no circulating B cells. METHODS The French DEFicit Immunitaire de l'adulte cohort provides detailed clinical and immunological descriptions of 690 adu...

Journal: :International archives of allergy and immunology 2015
Tomáš Milota Zdeněk Šumník Barbora Obermannová Pavlína Králíčková Karel Vondrák Adam Klocperk Jana Kayserová Anna Šedivá

Common variable immunodeficiency (CVID) is a heterogeneous group of disorders characterized by disturbed antibody production and a dysregulated immune system. Aside from recurrent infections, the most common complications of CVID are autoimmune complications, particularly autoimmune cytopenias. To date, type 1 diabetes mellitus (T1D) in combination with CVID has only been described as an unusua...

2017
Jannica S. Selenius Timi Martelius Sampsa Pikkarainen Sanna Siitonen Eero Mattila Risto Pietikäinen Pekka Suomalainen Arja H. Aalto Janna Saarela Elisabet Einarsdottir Asko Järvinen Martti Färkkilä Juha Kere Mikko Seppänen

BACKGROUND Common variable immunodeficiency (CVID) is the most common primary immunodeficiency. Prevalence varies greatly between countries and studies. Most diagnostic criteria include hypogammaglobulinemia and impaired vaccine response. AIM To evaluate the minimum prevalence as well as the clinical and immunological phenotypes of CVID in Southern Finland. METHODS We performed a cross-sect...

Journal: :Journal of medical genetics 2016
Delfien J A Bogaert Melissa Dullaers Bart N Lambrecht Karim Y Vermaelen Elfride De Baere Filomeen Haerynck

Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVI...

2015
Virginia C. Rodríguez-Cortez Lucia del Pino-Molina Javier Rodríguez-Ubreva Laura Ciudad David Gómez-Cabrero Carlos Company José M. Urquiza Jesper Tegnér Carlos Rodríguez-Gallego Eduardo López-Granados Esteban Ballestar

Common variable immunodeficiency (CVID), the most frequent primary immunodeficiency characterized by loss of B-cell function, depends partly on genetic defects, and epigenetic changes are thought to contribute to its aetiology. Here we perform a high-throughput DNA methylation analysis of this disorder using a pair of CVID-discordant MZ twins and show predominant gain of DNA methylation in CVID...

2015
Jin Li Silje F Jørgensen S Melkorka Maggadottir Marina Bakay Klaus Warnatz Joseph Glessner Rahul Pandey Ulrich Salzer Reinhold E Schmidt Elena Perez Elena Resnick Sigune Goldacker Mary Buchta Torsten Witte Leonid Padyukov Vibeke Videm Trine Folseraas Faranaz Atschekzei James T Elder Rajan P Nair Juliane Winkelmann Christian Gieger Markus M Nöthen Carsten Büning Stephan Brand Kathleen E Sullivan Jordan S Orange Børre Fevang Stefan Schreiber Wolfgang Lieb Pål Aukrust Helen Chapel Charlotte Cunningham-Rundles Andre Franke Tom H Karlsen Bodo Grimbacher Hakon Hakonarson Lennart Hammarström Eva Ellinghaus

Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have considerable autoimmune comorbidity and we therefore hypothesized that genetic susceptibility to CVID may overlap with autoimmune disorders. Here, in the largest genetic study performed in C...

2015
Anna Pituch-Noworolska Maciej Siedlar Danuta Kowalczyk Anna Szaflarska Anita Błaut-Szlósarczyk Katarzyna Zwonarz

Common variable immunodeficiency (CVID) is a primary immunodeficiency of humoral immunity with heterogeneous clinical features. Diagnosis of CVID is based on hypogammaglobulinaemia, low production of specific antibodies, and disorders of cellular immunity. The standard therapy includes replacement of specific antibodies with human immunoglobulin, prophylaxis, and symptomatic therapy of infectio...

Journal: :The Journal of Experimental Medicine 2005
William H. Wheat Carlyne D. Cool Yoshikazu Morimoto Pradeep R. Rai Charles H. Kirkpatrick Barbara A. Lindenbaum Christopher A. Bates Misoo C. Ellison Amanda E. Serls Kevin K. Brown John M. Routes

Patients who have common variable immunodeficiency (CVID) and granulomatous/lymphocytic interstitial lung disease (GLILD) are at high risk for early mortality and B cell lymphomas. Infection with human herpes virus type 8 (HHV8), a B cell lymphotrophic virus, is linked to lymphoproliferative disorders in people who have secondary immunodeficiencies. Therefore, we determined the prevalence of HH...

Journal: :Journal of autoimmunity 2011
Julien Boileau Gael Mouillot Laurence Gérard Maryvonnick Carmagnat Claire Rabian Eric Oksenhendler Jean-Louis Pasquali Anne-Sophie Korganow

Common variable immunodeficiency (CVID) is the most frequent clinically expressed primary immunodeficiency in adults and is characterized by primary defective immunoglobulin production. Besides recurrent infectious manifestations, up to 20% of CVID patients develop autoimmune complications. In this study, we took advantages of the French DEFI database to investigate possible correlations betwee...

2011
Robin Som Sarah Milton-White James A Gossage Paul Rowe

Common variable immunodeficiency (CVID) is the commonest primary immunodeficiency disease, which is characterized by frequent bacterial infections and hypogammaglobulinaemia. The prevalence of CVID is estimated at 1:25,000 in the Western world. Men and women are affected equally with a peak onset between 20 and 40 years. There is an average of 4–6 years between onset of symptoms and diagnosis. ...

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