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https://www.readbyqxmd.com/read/29033928/unexpectedly-high-prevalence-of-common-variable-immunodeficiency-in-finland
#1
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-sectional study to assess all adult CVID patients followed up in three hospital districts in Southern and South-Eastern Finland between April 2007 and August 2015...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29030829/review-diagnosing-common-variable-immunodeficiency-disorder-in-the-era-of-genome-sequencing
#2
REVIEW
Rohan Ameratunga, Klaus Lehnert, See-Tarn Woon, David Gillis, Vanessa L Bryant, Charlotte A Slade, Richard Steele
Common variable immunodeficiency disorders (CVID) are an enigmatic group of often heritable conditions, which may manifest for the first time in early childhood or as late as the eighth decade of life. In the last 5 years, next generation sequencing (NGS) has revolutionised identification of genetic disorders. However, despite the best efforts of researchers around the globe, CVID conditions have been slow to yield their molecular secrets. We have previously described the many clinical advantages of identifying the genetic basis of primary immunodeficiency disorders (PIDs)...
October 14, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/29030367/patients-with-common-variable-immunodeficiency-paradoxically-have-increased-rates-of-autoimmune-disorders
#3
Ammu Thampi Susheela, Andrew Hale
Common variable immunodeficiency (CVID), characterised by disordered B cell function, is one of the most common primary immunodeficiency disorders. Patients with CVID are at lifelong risk of recurrent infections, particularly of the respiratory and gastrointestinal tracts. Paradoxically, given their immunocompromised state, patients with CVID are also at significantly increased risk of autoimmune disorders, which are seen in almost 25% of cases. The authors report a 24-year-old female patient with CVID, manifested as severe hypogammaglobulinaemia with recurrent sinopulmonary infections and enterocolitis, who presented with transaminitis, chronic diarrhoea and haematemesis...
October 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28983810/dysregulation-of-innate-lymphoid-cells-in-common-variable-immunodeficiency
#4
REVIEW
Paul J Maglione, Montserrat Cols, Charlotte Cunningham-Rundles
Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immune deficiency. With widespread use of immunoglobulin replacement therapy, non-infectious complications, such as autoimmunity, chronic intestinal inflammation, and lung disease, have replaced infections as the major cause of morbidity and mortality in this immune deficiency. The pathogenic mechanisms that underlie the development of these complications in CVID are not known; however, there have been numerous associated laboratory findings...
October 5, 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28983794/somatic-hypermutation-defects-in-common-variable-immune-deficiency
#5
REVIEW
María Belén Almejun, Mercedes Borge
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by impaired antibody production and recurrent infections. In the last 20 years, several groups have reported that B cells from CVID patients have an impaired somatic hypermutation (SHM). The reported frequency of this defect among CVID patient cohorts is highly variable and so is the methodology used to evaluate this process. Interestingly, the low level of SHM on B cells from CVID patients has been correlated with the presence of infectious and non-infectious complications...
October 5, 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28983790/influenza-vaccination-in-patients-with-common-variable-immunodeficiency-cvid
#6
REVIEW
Jan F Mieves, Kirsten Wittke, Helma Freitag, Hans-Dieter Volk, Carmen Scheibenbogen, Leif G Hanitsch
PURPOSE OF REVIEW: Vaccination against influenza in patients with primary antibody deficiency is recommended. Common variable immunodeficiency (CVID) is the most frequent and clinically relevant antibody deficiency disease and is by definition characterized by an impaired vaccination response. The purpose of this review is to present the current knowledge of humoral and cellular vaccine response to influenza in CVID patients. RECENT FINDINGS: Studies conducted in CVID patients demonstrated an impaired humoral response upon influenza vaccination...
October 5, 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28973009/tlr9-stimulation-of-b-cells-induces-transcription-of-p53-and-prevents-spontaneous-and-irradiation-induced-cell-death-independent-of-dna-damage-responses-implications-for-common-variable-immunodeficiency
#7
Kristine Lillebø Holm, Randi Gussgard Syljuåsen, Grete Hasvold, Lene Alsøe, Hilde Nilsen, Kristina Ivanauskiene, Philippe Collas, Sergey Shaposhnikov, Andrew Collins, Randi Larsen Indrevær, Pål Aukrust, Børre Fevang, Heidi Kiil Blomhoff
In the present study, we address the important issue of whether B-cells protected from irradiation-induced cell death, may survive with elevated levels of DNA damage. If so, such cells would be at higher risk of gaining mutations and undergoing malignant transformation. We show that stimulation of B-cells with the TLR9 ligands CpG-oligodeoxynucleotides (CpG-ODN) prevents spontaneous and irradiation-induced death of normal peripheral blood B-cells, and of B-cells from patients diagnosed with Common variable immunodeficiency (CVID)...
2017: PloS One
https://www.readbyqxmd.com/read/28937520/evans-syndrome-as-first-manifestation-of-primary-immunodeficiency-in-clinical-practice
#8
Libny Martínez-Valdez, Angela Deyà-Martínez, María T Giner, Rubén Berrueco, Ana Esteve-Solé, Manel Juan, Ana M Plaza-Martín, Laia Alsina
BACKGROUND: Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID)...
October 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28936778/preferential-reduction-of-circulating-innate-lymphoid-cells-type-2-in-patients-with-common-variable-immunodeficiency-with-secondary-complications-is-part-of-a-broader-immune-dysregulation
#9
David Friedmann, Baerbel Keller, Ina Harder, Jonas Schupp, Yakup Tanriver, Susanne Unger, Klaus Warnatz
PURPOSE: Over a third of patients with common variable immunodeficiency (CVID) suffer from secondary complications like inflammatory organ disease, autoimmune manifestations, or lymphoproliferation contributing to increased morbidity and mortality in affected patients. Innate lymphoid cells (ILCs) have emerging roles in setting the milieu for physiological, but also pathological, immune responses and inflammation. We therefore sought to correlate the recently identified disturbed homeostasis of ILCs with alterations of the adaptive immune system in complex CVID patients (CVIDc)...
September 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28929596/hypogammaglobulinemia-in-children-a-warning-sign-to-look-deeply
#10
Karina Mescouto de Melo, Maria Isabel de Moraes-Pinto, Luís E C Andrade, Reinaldo Salomão, Milena K C Brunialti, Vanessa S Ferreira, Beatriz T Costa-Carvalho
This study investigated phenotypic and functional characteristics of lymphocytes in children with common variable immunodeficiency (CVID) and unclassified hypogammaglobulinemia (UH), as well as B-cell subsets in non-consanguineous parents. Blood samples of 30 children, CVID (n = 9), UH (n = 9), healthy donors HD (n = 12), and 19 adults (parents and controls) were labeled by a combination of surface markers to identify CD4, CD8 T-cell and B-cell subpopulations. T-cell cytokine production in children was analyzed in vitro after stimulation with phytohemagglutinin (PHA) and tetanus toxoid...
October 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28925897/role-of-apoptosis-in-the-pathogenesis-of-common-variable-immunodeficiency-cvid
#11
Mazdak Ganjalikhani-Hakemi, Reza Yazdani, Mohammad Esmaeili, Hassan Abolhassani, Wiliam Rae, Gholamreza Azizi, Majid Zaki Dizaji, Mohammadreza Shaghaghi, Faezeh Abbasi-Rad, Abbas Rezaei, Sanaz Afshar-Qasemloo, Saeed Mohammadi, Nima Rezaei, Asghar Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is a heterogeneous immune deficiency characterized by hypogammaglobulinemia. Since B cell maturation and differentiation is defective in this disorder, we evaluated apoptosis in B cells of patients with CVID compared with healthy donors (HD). METHODS: Determination of peripheral blood B-cell subsets in CVID and HDs, was performed using flow cytometry. We compared total apoptosis, early apoptosis and late apoptosis/necrosis in unstimulated and stimulated B-cells of patients with CVID and HDs...
September 19, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28924106/intravenous-immunoglobulin-monotherapy-for-granulomatous-lymphocytic-interstitial-lung-disease-in-common-variable-immunodeficiency
#12
Mizue Hasegawa, Fumikazu Sakai, Asako Okabayashi, Akitoshi Sato, Naoko Yokohori, Hideki Katsura, Chihiro Asano, Toshiko Kamata, Eitetsu Koh, Yasuo Sekine, Kenzo Hiroshima, Takashi Ogura, Tamiko Takemura
Common variable immunodeficiency (CVID) is a heterogeneous subset of immunodeficiency disorders. Recurrent bacterial infection is the main feature of CVID, but various non-infectious complications can occur. A 42-year-old woman presented with cough and abnormal chest X-ray shadows. Laboratory tests showed remarkable hypogammaglobulinemia. Computed tomography revealed multiple consolidation and nodules on the bilateral lung fields, systemic lymphadenopathy, and splenomegaly. A surgical lung biopsy specimen provided the final diagnosis of lymphoproliferative disease in CVID, which was grouped under the term granulomatous lymphocytic interstitial lung disease...
September 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28879211/common-variable-immunodeficiency-with-several-gastrointestinal-manifestations
#13
Catarina Atalaia-Martins, Sandra Barbeiro, Pedro Marcos, Isabel Cotrim, Helena Vasconcelos
Common variable immunodeficiency (CVID) is an immunodeficiency disorder with a high incidence of gastrointestinal (GI) manifestations and an increased risk of gastric malignancy. We report a case of a CVID with mild anemia presenting with multiple GI manifestations: gastric low-grade dysplasia (LGD), enteropathy with villous atrophy, refractory Giardia infection, nodular lymphoid hyperplasia, and inflammatory bowel-like disease. The differential diagnosis with celiac sprue could be challenging because of CVID enteropathy with villous flattening...
2017: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28871669/facilitated-subcutaneous-immunoglobulin-fscig-in-autoimmune-cytopenias-associated-with-common-variable-immunodeficiency
#14
Veronica Pedini, Isabella Savore, Giovanna Maria Danieli
BACKGROUND: Common variable immunodeficiency (CVID) is the most common symptomatic primary immune deficiency of adulthood. Besides recurrent infections, autoimmune disorders-mainly cytopenias-affect 30% of patients with CVID. OBJECTIVES: To describe the efficacy and safety of facilitated subcutaneous immunoglobulin (fSCIg), which is a combination of 10% [human] SCIg with recombinant human hyaluronidase for the treatment of CVID-linked cytopenias. METHODS: We describe four women (mean age 54 years) with CVID associated with idiopathic thrombocytopenic purpura (ITP) (n=3) and autoimmune hemolytic anemia (AIHA) (n=1)...
July 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28861081/14%C3%A2-years-after-discovery-clinical-follow-up-on-15-patients-with-inducible-co-stimulator-deficiency
#15
Johanna Schepp, Janet Chou, Andrea Skrabl-Baumgartner, Peter D Arkwright, Karin R Engelhardt, Sophie Hambleton, Tomohiro Morio, Ekkehard Röther, Klaus Warnatz, Raif Geha, Bodo Grimbacher
BACKGROUND: Inducible co-stimulator (ICOS) deficiency was the first monogenic defect reported to cause common variable immunodeficiency (CVID)-like disease in 2003. Since then, 16 patients have been reported worldwide with an increasing range of clinical phenotypes. OBJECTIVE: We sought to compare the clinical and immunological phenotype and provide clinical follow-up and therapeutic approaches for treating ICOS-deficient patients. METHODS: We describe the clinical and laboratory data of 15 patients with available clinical data...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28842786/neutropenia-in-patients-with-common-variable-immunodeficiency-a-rare-event-associated-with-severe-outcome
#16
Aurélien Guffroy, Rachel Mourot-Cottet, Laurence Gérard, Vincent Gies, Chantal Lagresle, Aurore Pouliet, Patrick Nitschké, Sylvain Hanein, Boris Bienvenu, Valérie Chanet, Jean Donadieu, Martine Gardembas, Marina Karmochkine, Raphaele Nove-Josserand, Thierry Martin, Vincent Poindron, Pauline Soulas-Sprauel, Fréderic Rieux-Laucat, Claire Fieschi, Eric Oksenhendler, Isabelle André-Schmutz, Anne-Sophie Korganow
BACKGROUND: Common variable immunodeficiency (CVID) is characterized by infections and hypogammaglobulinemia. Neutropenia is rare during CVID. METHODS: The French DEFI study enrolled patients with primary hypogammaglobulinemia. Patients with CVID and neutropenia were retrospectively analyzed. RESULTS: Among 473 patients with CVID, 16 patients displayed neutropenia (lowest count [0-1400]*10(6)/L). Sex ratio (M/F) was 10/6. Five patients died during the follow-up (11 years) with an increased percentage of deaths compared to the whole DEFI group (31...
August 26, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28805315/a-comparison-of-clinical-and-immunologic-phenotypes-in-familial-and-sporadic-forms-of-common-variable-immunodeficiency
#17
COMPARATIVE STUDY
A Valizadeh, R Yazdani, G Azizi, H Abolhassani, A Aghamohammadi
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency disease, and its prevalence varies significantly among different population. Minority of CVID patients present a familial aggregation suggesting a higher probability of heritable genetic defects. A total of 235 registered CVID patients were evaluated in this cohort study. Familial and sporadic patients were stratified, and demographic information, clinical records, laboratory and molecular data were compared among these two groups of patients...
October 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28781847/management-of-common-variable-immunodeficiency-by-subcutaneous-igg-self-administration-during-pregnancy-a-case-report
#18
Carolina Marasco, Alberta Venturelli, Luigia Rao, Angelo Vacca, Maria Rosaria Carratù
Patients with common variable immunodeficiency are prone to infections, and this poses a particular challenge during pregnancy, when the requirement for immunoglobulin (Ig) replacement therapy is even more demanding so as to achieve an effective protection also of the fetus. This case report highlights the benefits observed with subcutaneous IgG self-administration in the management of common variable immunodeficiency (CVID) during pregnancy, in terms of efficacy and safety.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28755066/two-sides-of-the-same-coin-pediatric-onset-and-adult-onset-common-variable-immune-deficiency
#19
Lauren A Sanchez, Solrun Melkorka Maggadottir, Matthew S Pantell, Patricia Lugar, Charlotte Cunningham Rundles, Kathleen E Sullivan
PURPOSE: Common variable immunodeficiency (CVID) is a complex, heterogeneous immunodeficiency characterized by hypogammaglobulinemia, recurrent infections, and poor antibody response to vaccination. While antibiotics and immunoglobulin prophylaxis have significantly reduced infectious complications, non-infectious complications of autoimmunity, inflammatory lung disease, enteropathy, and malignancy remain of great concern. Previous studies have suggested that CVID patients diagnosed in childhood are more severely affected by these complications than adults diagnosed later in life...
July 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28735808/autoimmunity-and-its-association-with-regulatory-t-cells-and-b-cell-subsets-in-patients-with-common-variable-immunodeficiency
#20
G Azizi, H Abolhassani, F Kiaee, N Tavakolinia, H Rafiemanesh, R Yazdani, S A Mahdaviani, S Mohammadikhajehdehi, M Tavakol, V Ziaee, B Negahdari, J Mohammadi, A Mirshafiey, A Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is one of the most prevalent symptomatic primary immunodeficiencies (PIDs), which manifests a wide clinical variability such as autoimmunity, as well as T cell and B cell abnormalities. METHODS: A total of 72 patients with CVID were enrolled in this study. Patients were evaluated for clinical manifestations and classified according to the presence or absence of autoimmune disease. We measured regulatory T cells (Tregs) and B-cell subsets using flow cytometry, as well as specific antibody response (SAR) to pneumococcal vaccine, autoantibodies and anti-IgA in patients...
July 20, 2017: Allergologia et Immunopathologia
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