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Common variable immunodeficiency

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https://www.readbyqxmd.com/read/29757592/the-profile-of-toll-like-receptor-2-tlr2-tlr4-and-their-cytosolic-downstream-signaling-pathway-in-common-variable-immunodeficiency-cvid-patients
#1
Laleh Sharifi, Asghar Aghamohammadi, Nima Rezaei, Reza Yazdani, Mahdi Mahmoudi, Mohammad Mehdi Amiri, Farimah Masoumi, Saied Bokaie, Parsova Tavasolian, Rouzbeh Sanaei, Mona Moshiri, Naeimeh Tavakolinia, Tina Alinia, Gholamreza Azizi, Abbas Mirshafiey
Common variable immunodeficiency (CVID) is the most common clinical primary antibody deficiency, characterized by increased susceptibility to recurrent bacterial infections. Since Toll-like receptors (TLRs) play an important role in the maturation and differentiation of B-cells, TLRs' defect can be involved in the pathogenesis of CVID. Therefore, we evaluated the expression of TLR2 and TLR4 and their signaling pathway; also their association with autoimmunity, B-cell subtypes and response to pneumovax-23 were assessed in CVID patients...
April 2018: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29743354/inhibitory-effects-of-hiv-2-vpx-on-replication-of-hiv-1
#2
Mohamed Mahdi, Zsófia Szojka, János András Mótyán, József Tőzsér
The human immunodeficiency viruses type 1 and 2 share a striking genomic resemblance, however, variability in the genetic sequence accounts for the presence of unique accessory genes; such as viral protein x ( vpx ) in HIV-2. Dual infection with both viruses has long been described in the literature, yet the molecular mechanism of how dually infected patients tend to do better than those who are mono-infected with HIV-1 has not yet been explored. We hypothesized that in addition to extracellular mechanisms, an HIV-2 accessory gene is the culprit, and interference at viral accessory/regulatory protein level is perhaps responsible for the attenuated pathogenicity of HIV-1 observed in dually infected patients...
May 9, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29736405/renal-evaluation-in-common-variable-immunodeficiency
#3
Giovany Gomes Capistrano, Gdayllon Cavalcante Meneses, Fernanda Macedo de Oliveira Neves, Renata de Almeida Leitão, Alice Maria Costa Martins, Alexandre Braga Libório
Introduction: Common variable immunodeficiency (CVID) comprises a heterogeneous group of disorders characterized by impaired antibody production. Kidney involvement in CVID is described in isolated and sporadic case reports. The objective of this study was to study the renal function pattern in CVID patients through glomerular and tubular function tests. Methods: Study of 12 patients with CVID diagnosis and 12 healthy control individuals. Glomerular filtration rate (GFR), fractional excretion of sodium (FENa+ ) and potassium (FEK+ ), urinary concentration, and acidification capacity were measured...
2018: Journal of Immunology Research
https://www.readbyqxmd.com/read/29709555/genetic-screening-of-male-patients-with-primary-hypogammaglobulinemia-can-guide-diagnosis-and-clinical-management
#4
Nicolas Vince, Gaël Mouillot, Marion Malphettes, Sophie Limou, David Boutboul, Angélique Guignet, Véronique Bertrand, Philippe Pellet, Pierre-Antoine Gourraud, Patrice Debré, Eric Oksenhendler, Ioannis Théodorou, Claire Fieschi
The precise diagnosis of an immunodeficiency is sometimes difficult to assess, especially due to the large spectrum of phenotypic variation reported among patients. Common variable immunodeficiency disorders (CVID) do not have, for a large part, an identified genetic cause. The identification of a causal genetic mutation is important to confirm, or in some cases correct, the diagnosis. We screened >150 male patients with hypogammaglobulinemia for mutations in three genes involved in pediatric X-linked primary immunoglobulin deficiency: CD40LG, SH2D1A and BTK...
April 27, 2018: Human Immunology
https://www.readbyqxmd.com/read/29691086/gastrointestinal-and-hepatobiliary-manifestations-in-patients-with-common-variable-immunodeficiency-in-relation-to-three-clinical-cases
#5
César Navea, Matías Echeverría, César Romero, Emily Osse, Javier Brahm, Jaime Poniachik
No abstract text is available yet for this article.
April 21, 2018: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/29678747/predictive-markers-for-humoral-influenza-vaccine-response-in-patients-with-common-variable-immunodeficiency-cvid
#6
Ann Gardulf, Hassan Abolhassani, Rolf Gustafson, Lars E Eriksson, Lennart Hammarström
BACKGROUND: A subgroup of patients with common variable immunodeficiencies (CVID) responds to vaccination. The aim of the study was to try to identify predictive markers for those who developed a humoral immune response after influenza vaccination. METHODS: 48 patients with CVID (29 females, 19 males, mean age 59.4 years) were vaccinated with the A(H1N1) influenza vaccine Pandemrix® and boosted after one month. Blood samples were collected prior to each vaccination and two months later...
April 17, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29675923/latent-therapeutic-demand-model-for-the-immunoglobulin-replacement-therapy-of-primary-immune-deficiency-disorders-in-the-usa
#7
J S Stonebraker, J Hajjar, J S Orange
BACKGROUND AND OBJECTIVES: Our research aim is to model latent therapeutic demand (LTD) for the immunoglobulin replacement therapy (IgGRT) of primary immune deficiency disorders (PIDDs) in the USA. Given the high level of variability of IgGRT use and major differences among American and European practices in the management of patients with PIDDs, we develop a USA-specific LTD model for common variable immune deficiency (CVID), hyper IGM syndrome, severe combined immune deficiency, Wiskott-Aldrich syndrome and X-linked agammaglobulinemia (XLA)...
April 20, 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29675019/enhanced-akt-phosphorylation-of-circulating-b-cells-in-patients-with-activated-pi3k%C3%AE-syndrome
#8
Takaki Asano, Satoshi Okada, Miyuki Tsumura, Tzu-Wen Yeh, Kanako Mitsui-Sekinaka, Yuki Tsujita, Youjiro Ichinose, Akira Shimada, Kunio Hashimoto, Taizo Wada, Kohsuke Imai, Osamu Ohara, Tomohiro Morio, Shigeaki Nonoyama, Masao Kobayashi
Activated PI3Kδ syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and defective IgG production. Heterozygous mutations in PIK3CD, PIK3R1 , or PTEN , which are related to the hyperactive phosphoinositide 3-kinase (PI3K) signaling, were recently presented to cause APDS1 or APDS2 (APDSs), or APDS-like (APDS-L) disorder. In this study, we examined the AKT phosphorylation of peripheral blood lymphocytes and monocytes in patients with APDSs and APDS-L by using flow cytometry...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29659363/-late-diagnosis-of-whim-sydrome
#9
María V Paolini, Silvia Danielian, Emma Prieto, María Fernanda Tami, Matías M Oleastro, Diego S Fernández Romero
WHIM syndrome is a primary autosomal dominant immuno deficiency due to CXCR4 mutations characterized by mucocutaneous warts, hypogammaglobulinemia, recurrent bacterial infections and myelokathesis. Treatment consists in prophylactic antibiotics, immunoglobulin replacement and granulocyte or granulocyte/monocyte colony stimulating factors. We present the case of a 21 year old woman who showed leukopenia at 10 months of age and one year later multiple infections with hypogammaglobulinemia requiring intravenous immunoglobulin...
2018: Medicina
https://www.readbyqxmd.com/read/29651973/the-clinical-and-immunological-features-of-patients-with-primary-antibody-deficiencies
#10
Gholamreza Azizi, Yasser Bagheri, Marzieh Tavakol, Forough Askarimoghaddam, Kiyoomars Poorrostami, Hosein Rafiemanesh, Reza Yazdani, Fatemeh Kiaee, Sima Habibi, Kosar Abouhamzeh, Hamed Mohammadi, Mostafa Qorbani, Hassan Abolhassani, Asghar Aghamohammadi
BACKGROUND: Primary antibody deficiency (PAD) comprises a range of diseases from early to late terminal B cells defects and is associated with the various clinical complications. METHODS: A total of 461 patients (311 males and 150 females) with PADs enrolled in the retrospective cohort study and for all patients' demographic information, clinical records and laboratory data were collected to investigate clinical complications. RESULTS: The most prevalent first presentations of immunodeficiency were respiratory tract infections in 63...
April 12, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29629663/the-effect-of-combination-antiretroviral-therapy-use-among-hiv-positive-children-on-the-hazard-of-aids-using-calendar-year-as-an-instrumental-variable
#11
Andrew Anglemyer, Amy Sturt, Yvonne Maldonado
BACKGROUND: Instrumental variable (IV) analyses are a common causal inference technique used in the absence of randomized data. Combination antiretroviral therapy (cART) was first introduced in 1996 and calendar periods have been used as a proxy for cART use. However, cART use misclassification can bias IV analyses. OBJECTIVE: We aim to highlight the differences in effects of antiretroviral therapy on clinical outcomes between applications of traditional and adapted IV analysis techniques...
April 9, 2018: Current HIV Research
https://www.readbyqxmd.com/read/29627765/scoliosis-in-association-with-the-22q11-2-deletion-syndrome-an-observational-study
#12
Jelle F Homans, Vyaas G M Baldew, Rob C Brink, Moyo C Kruyt, Tom P C Schlösser, Michiel L Houben, Vincent F X Deeney, Terrence B Crowley, René M Castelein, Donna M McDonald-McGinn
OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is characterised by wide phenotypic variability, including congenital heart disease (CHD), immunodeficiency and scoliosis. However, little is known regarding the prevalence and characteristics of scoliosis in patients with 22q11.2DS. The objective of this study is to assess the prevalence of scoliosis, its characteristics and the association with CHD in patients with 22q11.2DS...
April 7, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29618830/evaluation-of-the-tlr-negative-regulatory-network-in-cvid-patients
#13
Roozbeh Sanaei, Nima Rezaei, Asghar Aghamohammadi, Ali-Akbar Delbandi, Shahram Teimourian, Reza Yazdani, Parsova Tavasolian, Fatemeh Kiaee, Nader Tajik
Common variable immunodeficiency (CVID), a clinically symptomatic primary immunodeficiency disease (PID), is characterized by hypogammaglobulinemia leading to recurrent infections and various complications. Recently, some defects in the signaling of TLRs have been identified in CVID patients which led us to investigate the expression of TLR4 and 9 negative regulatory molecules and their upregulation status following their activation. Using TaqMan real-time PCR, SOCS1, TNFAIP3, RFN216, and IRAK-M transcripts among peripheral blood mononuclear cells (PBMCs) were measured with/without TLR4 and 9 activations...
April 5, 2018: Genes and Immunity
https://www.readbyqxmd.com/read/29618687/-successful-cord-blood-transplantation-in-a-patient-with-adult-onset-common-variable-immunodeficiency
#14
Yuhei Harutani, Shinobu Tamura, Hiroshi Kobata, Takehiro Oiwa, Yusuke Yamashita, Toshiki Mushino, Hiroki Hosoi, Shogo Murata, Akinori Nishikawa, Kohsuke Imai, Tomohiro Morio, Takashi Sonoki
Common variable immunodeficiency (CVID) is the most frequently diagnosed congenital immunodeficiency and is characterized by dysfunctional antibody production. It often occurs at the age of ≥10 years. Here we reported a case of a 46-year-old man confirmed with adult-onset CVID. He was effectively treated with cord blood transplant (CBT). The patient was observed with repeated upper respiratory infection a few years back and was referred to our department owing to a marked decrease in neutrophil counts and progression of anemia...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29614902/intravenous-immunoglobulin-ivig-efficiency-in-women-with-common-variable-immunodeficiency-cvid-decreases-significantly-during-pregnancy
#15
Makiko Egawa, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio, Naoyuki Miyasaka
Immunoglobulin replacement therapy, including intravenous immunoglobulin (IVIG), is essential for pregnant women with common variable immunodeficiency (CVID) since it prevents infection and improves the health of the newborn. There are no established IVIG treatment protocols for pregnant women with CVID, and the relationship between IVIG treatment and maternal serum IgG changes during pregnancy remains unclear. Therefore, we reviewed the medical charts of four CVID patients, including one receiving subcutaneous immunoglobulin (SCIG), for IVIG dose and frequency, maternal serum IgG changes, obstetrical findings, and perinatal outcomes...
April 3, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29599028/phenotypic-characterization-of-patients-with-rheumatologic-manifestations-of-common-variable-immunodeficiency
#16
Maria J Gutierrez, Kathleen E Sullivan, Ramsay Fuleihan, Clifton O Bingham
Patients with common variable immunodeficiency (CVID) have a higher incidence of rheumatologic disorders. To delineate this clinical association, we investigated the phenotypic features of patients with CVID affected by these conditions. METHODS: We conducted a retrospective analysis of 870 pediatric and adult patients with CVID included in the United States Immunodeficiency Network (USIDNET) registry. Outcomes included clinical characteristics (age, gender, ethnicity, rheumatologic diagnosis, and comorbidities), infectious history and basic immunophenotype (serum immunoglobulin levels, CD19+ B cells, and CD4/CD8 ratio) in patients with CVID and rheumatologic disorders compared to those with non-inflammatory CVID...
February 23, 2018: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29574865/rheumatologic-complications-in-a-cohort-of-227-patients-with-common-variable-immunodeficiency
#17
Gholamreza Azizi, Fatemeh Kiaee, Ehsan Hedayat, Reza Yazdani, Elahe Dolatshahi, Tina Alinia, Laleh Sharifi, Hamed Mohammadi, Hoda Kavosi, Farhad Jadidi-Niaragh, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi
INTRODUCTION: Common variable immunodeficiency (CVID) is the most prevalent symptomatic type of human primary immunodeficiency diseases (PID). Clinically, CVID is characterized by increased susceptibility to infections and a wide variety of autoimmune and rheumatologic disorders. METHODS: All CVID patients registered in Iranian PID Registry (IPIDR) were enrolled in this retrospective cohort study. We investigated the frequency of rheumatologic diseases and its association with immunological and clinical phenotypes in CVID patients...
March 24, 2018: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/29573229/urinary-tract-blastomycosis-diagnosed-by-urine-cytology
#18
Shifteh Vahidi, Amy Beckman, Kellen Albrecht, Sophie Arbefeville, Patricia Ferrieri, Khalid Amin
Urinary tract blastomycosis is an uncommon manifestation of disseminated Blastomyces infection. Here, we report a 50-year-old male with common variable immunodeficiency who presented with urinary symptoms and a renal mass concerning for a kidney neoplasm. Urine cytology revealed typical broad-based budding yeasts with thick-walled refractile capsules, leading to diagnosis of urinary tract blastomycosis. In this case, urine cultures were negative, and urine cytology was the main method of diagnosis of blastomycosis...
March 23, 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29559491/common-variable-immunodeficiency-presenting-in-a-man-with-recurrent-pneumonia-caused-by-staphylococcus-lugdunensis
#19
Nkechi Chiugo Mbaebie, Sylvia Vania Alarcon Velasco, Jason Touhey
Common variable immunodeficiency (CVID) refers to a group of disorders where differentiation and maturation of B cells into plasma cells are affected, leading to decreased or defective immunoglobulin production and subsequent immunodeficiency. Symptoms may present at any age between 5 and 72 years, although more severe forms often manifest earlier in life. Milder forms may not be detected. We present an intriguing case of a 69-year-old man presenting with recurrent pneumonia caused by a rare organism Staphylococcus lugdunensis , eventually determined to be caused by CVID...
March 20, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29549228/the-significance-of-b-cell-subsets-in-patients-with-unclassified-hypogammaglobulinemia-and-association-with-intravenous-immunoglobulin-replacement-requirement
#20
Sait Karaman, Semiha Bahçeci Erdem, Nesrin Gülez, Ferah Genel
BACKGROUND: Patients with unclassified hypogammaglobulinemia (UCH) constitute a diagnostic and therapeutic dilemma, because information concerning the clinical and immunological characteristics of these patients is insufficient. OBJECTIVE: To evaluate B-cell subsets in cases with UCH and common variable immunodeficiency (CVID) and their association with treatment requirement in UCH patients. METHODS: The study included 41 UCH, 25 CVID, and 36 healthy individuals between the ages of 4-18 years...
March 2018: Iranian Journal of Immunology: IJI
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