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Common variable immunodeficiency

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
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
James C Barton, Jackson Clayborn Barton, Luigi F Bertoli
BACKGROUND: We sought to learn more about the utility and safety of implanted ports for monthly immunoglobulin G infusions in adults with primary immune deficiency. METHODS: We reviewed charts of adults who were referred to a single practice during the interval 2006-2016 for evaluation and management of frequent or severe upper and lower respiratory tract and other infections, subnormal total immunoglobulin G or immunoglobulin G subclasses, and suboptimal responses to polyvalent pneumococcal polysaccharide vaccinations; were diagnosed to have primary immune deficiency; and were advised to undergo immunoglobulin G therapy...
March 1, 2018: Journal of Vascular Access
Angela Deyà-Martínez, Ana Esteve-Solé, Natalia Vélez-Tirado, Veronica Celis, Jordi Costa, Maria Cols, Cristina Jou, Alexandru Vlagea, Ana María Plaza-Martin, Manel Juan, Laia Alsina
BACKGROUND: One of the most frequent non-infectious complications of humoral immunodeficiencies with a CVID-like pattern is a particular form of inflammatory lung disease which is called granulomatous-lymphocytic interstitial lung disease (GLILD). Its development worsens patient prognosis, with a significant decrease in survival. Currently there are no unified guidelines regarding its management, and different combinations of immunosuppressants have been used with variable success. METHODS: Clinical and radiological data were collected from patient's medical charts...
March 12, 2018: Pediatric Allergy and Immunology
You-Hong Fang, You-You Luo, Jin-Dan Yu, Jin-Gan Lou, Jie Chen
AIM: To analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD phenotypically and genotypically via genetic testing. METHODS: A retrospective analysis of children aged 0 to 6 years diagnosed with VEO-IBD in a tertiary hospital in southern China from 2005 to 2017 was performed. Clinical data for VEO-IBD patients were collected, and genetic characteristics were analyzed using whole exome sequencing or target gene panel sequencing...
March 7, 2018: World Journal of Gastroenterology: WJG
Isaac R Melamed, Michael Borte, Laurenz Trawnicek, Ai-Lan Kobayashi, Roger H Kobayashi, Alan Knutsen, Sudhir Gupta, William Smits, Anna Pituch-Noworolska, Magdalena Strach, Grazyna Pulka, Hans D Ochs, James N Moy
Intravenous immunoglobulin (IVIG) therapy is commonly used to treat patients with primary antibody deficiency. This prospective, open-label, non-randomised, multicentre, phase III trial investigated the pharmacokinetics of a new 10% liquid IVIG product (panzyga®; Octapharma) in 51 patients aged 2-75 years with common variable immunodeficiency (n = 43) or X-linked agammaglobulinaemia (n = 8). Patients were treated with IVIG 10% every 3 (n = 21) or 4 weeks (n = 30) at a dose of 200-800 mg/kg for 12 months...
March 6, 2018: European Journal of Pharmaceutical Sciences
Carsten Schade Larsen, Terese L Katzenstein
Primary antibody deficiency syndromes (PAD) are a group of primary immunodeficiencies (PID) characterized by reduced production of immunoglobulins and recurrent respiratory tract infections. PAD varies from rare but life-threatening agammaglobulinaemias to frequent but often asymptomatic conditions such as selective immunoglobulin(Ig)A deficiency or IgG subclass deficiency. Common variable immunodeficiency is the clinically most important PAD. Hypogammaglobulinaemia may be associated with other PID or may be drug-induced or caused by infectious diseases, haematological malignancies or protein loss...
February 26, 2018: Ugeskrift for Laeger
Paul Tuijnenburg, Hana Lango Allen, Siobhan O Burns, Daniel Greene, Machiel H Jansen, Emily Staples, Jonathan Stephens, Keren J Carss, Daniele Biasci, Helen Baxendale, Moira Thomas, Anita Chandra, Sorena Kiani-Alikhan, Hilary J Longhurst, Suranjith L Seneviratne, Eric Oksenhendler, Ilenia Simeoni, Godelieve J de Bree, Anton T J Tool, Ester M M van Leeuwen, Eduard H T M Ebberink, Alexander B Meijer, Salih Tuna, Deborah Whitehorn, Matthew Brown, Ernest Turro, Adrian J Thrasher, Kenneth G C Smith, James E Thaventhiran, Taco W Kuijpers
BACKGROUND: The genetic etiology of primary immunodeficiency disease (PID) carries prognostic information. OBJECTIVE: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR-BioResource - Rare Disease cohort. METHODS: In the predominantly European study population of principally sporadic unrelated PID cases (n=846), a novel Bayesian method identified NFKB1 as one most strongly associated with PID, and the association was explained by 16 novel heterozygous truncating, missense and gene deletion variants...
February 22, 2018: Journal of Allergy and Clinical Immunology
Amika K Sood, William Funkhouser, Brian Handly, Brent Weston, Eveline Y Wu
PURPOSE OF REVIEW: Granulomatous-lymphocytic interstitial lung disease (GLILD) has classically been associated with common variable immune deficiency (CVID), but is increasingly being reported in other immunodeficiencies. We describe the second reported case of GLILD in a patient with 22q11.2 deletion syndrome (22q11.2DS) and review the recent literature surrounding GLILD. RECENT FINDINGS: GLILD is characterized by granulomata and lymphoproliferation. Consensus statements and retrospective and case-control studies have better elucidated the clinicopathological and radiographic manifestations of GLILD, allowing for its differentiation from similar conditions like sarcoidosis...
February 22, 2018: Current Allergy and Asthma Reports
Monica G Lawrence, Thamiris V Palacios-Kibler, Lisa J Workman, Alexander J Schuyler, John W Steinke, Spencer C Payne, Emily C McGowan, James Patrie, Ramsay L Fuleihan, Kathleen E Sullivan, Patricia L Lugar, Camellia L Hernandez, Douglas E Beakes, James W Verbsky, Thomas A E Platts-Mills, Charlotte Cunningham-Rundles, John M Routes, Larry Borish
Although small prior studies have suggested that IgE can be low in common variable immunodeficiency (CVID), the workup for patients with recurrent infections and suspected hypogammaglobulinemia does not include the routine measurement of serum IgE. We sought to test the hypothesis that low/undetectable serum IgE is characteristic of CVID by comparing the frequency of low/undetectable serum IgE in healthy controls and patients with CVID. We measured total serum IgE in a large multi-center cohort of patients with CVID (n = 354) and compared this to large population-based cohorts of children and adults...
February 17, 2018: Journal of Clinical Immunology
Yue Yang, Xiu-Ping Zhao, Hua-Chun Zou, Min-Jie Chu, Ping Zhong, Xiao-Shan Li, Xiao-Yan Li, Yu-Hui Yu, Ke-Xin Zhu, Yu-Jia Chen, Fei Xia, Bo-Wen Zhu, Luan-Qi Ruan, Yi-Ning Bao, Xun Zhuang
The prevalence and incidence of human immunodeficiency virus type 1 (HIV-1) among men who have sex with men (MSM) are on the rise throughout China. With a large population of MSM, Jiangsu Province is facing an escalating HIV-1 epidemic.The aim of this study was to explore the phylogenetic and temporal dynamics of HIV-1 CRF01_AE and CRF07_BC among antiretroviral therapy (ART)-naïve MSM recently infected with HIV-1 in Jiangsu Province.We recruited MSM in Jiangsu Province (Suzhou, Wuxi, Nantong, Taizhou and Yancheng) 2012 to 2015...
February 2018: Medicine (Baltimore)
Nicole Atkins, William Hodge, Bruce Li
Tonometry has been identified as a common method for measuring the intraocular pressure in patients. The direct contact between the tonometer and the eye may contribute to the risk of cross infection, especially of viral particles, from one patient to another. A systematic review was undertaken to address the likelihood of human immunodeficiency virus (HIV), hepatitis B virus, hepatitis C virus, and prion diseases transmission through the use of tonometers. Additionally, a comparison of the current tonometer disinfection methods is provided to assist with identifying which technique effectively reduces the risk of disease transmission...
March 2018: Journal of Clinical Medicine Research
Jason Schend, Dave McGarry, John Johnson, Robert Hostoffer
No abstract text is available yet for this article.
January 30, 2018: Annals of Allergy, Asthma & Immunology
Patrizia Leone, Angelo Vacca, Franco Dammacco, Vito Racanelli
Common variable immunodeficiency (CVID) is an immunodeficiency disorder with a high incidence of gastrointestinal manifestations and an increased risk of gastric carcinoma and lymphoma. This review discusses the latest advancements into the immunological, clinical and diagnostic aspects of gastric malignancies in patients with CVID. The exact molecular pathways underlying the relationships between CVID and gastric malignancies remain poorly understood. These include genetics, immune dysregulation and chronic infections by Helicobacter pylori ...
February 2, 2018: International Journal of Molecular Sciences
Patrícia de Oliveira Queirós, José Manuel Sousa Martín
In common variable immunodeficiency (CVID) there is a deregulation of the immune system, which frequently leads to an increased risk of infections, but also to autoimmunity phenomena. Autoimmune hepatitis may develop at any time of CVID's evolution, but it is difficult to diagnose due to the frequent absence of autoantibodies and low levels of IgG. Early diagnosis is important because targeted treatment may allow disease improvement. We present a case of autoimmune hepatitis in a patient with CVID.
January 25, 2018: Revista Española de Enfermedades Digestivas
Tomasz Przybyła, Monika Sakowicz-Burkiewicz, Tadeusz Pawełczyk
Adenosine and adenosine triphosphate are involved in purinergic signaling which plays an important role in control of the immune system. Much data have been obtained regarding impact of purinergic signaling on dendritic cells, macrophages, monocytes and T lymphocytes, however less attention has been paid to purinergic regulation of B cells. This review summarizes present knowledge on ATP- and Ado-dependent signaling in B lymphocytes. Human B cells have been shown to express A1-AR, A2A-AR, A2B-AR and A3-AR and each subtype of P2 receptors...
January 23, 2018: Acta Biochimica Polonica
G Azizi, A Mirshafiey, H Abolhassani, R Yazdani, F J Ansariha, M Shaghaghi, S S Mortazavi-Jahromi, F Noorbakhsh, N Rezaei, A Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency (PID), characterized by heterogeneous clinical manifestations and defects in B- and T- cells. In the present study, we investigated the T helper (Th) cell subsets and regulatory T (Treg) cells, and their related cytokines and transcription factors in the CVID patients with no definite genetic diagnosis. METHODS: The study population comprised 13 CVID patients and 13 healthy controls (HC)...
January 18, 2018: Journal of Investigational Allergology & Clinical Immunology
Sergio Ita, Alison K Hill, Evan C Lam, Fay J Dufort, Xiao Yang, Ruchi Newman, Sivan Leviyang, Ismael B Fofana, Welkin E Johnson
Primate lentiviruses, including the human and simian immunodeficiency viruses (HIV and SIV), produce infections marked by persistent, ongoing viral replication. This occurs despite the presence of virus-specific adaptive immune responses, including antibodies targeting the viral envelope glycoprotein (Env), and evolution of antibody-escape variants is a well-documented feature of lentiviral infection. Here, we examined the evolutionary dynamics of the SIV env gene during early infection (≤ 29 weeks post-infection) in a cohort of four SIVmac251-infected rhesus macaques...
January 17, 2018: Journal of Virology
Milena Soriano Marcolino, João Antonio Queiroz Oliveira, Marcelo D'Agostino, Antonio Luiz Ribeiro, Maria Beatriz Moreira Alkmim, David Novillo-Ortiz
BACKGROUND: Mobile phone usage has been rapidly increasing worldwide. mHealth could efficiently deliver high-quality health care, but the evidence supporting its current effectiveness is still mixed. OBJECTIVE: We performed a systematic review of systematic reviews to assess the impact or effectiveness of mobile health (mHealth) interventions in different health conditions and in the processes of health care service delivery. METHODS: We used a common search strategy of five major scientific databases, restricting the search by publication date, language, and parameters in methodology and content...
January 17, 2018: JMIR MHealth and UHealth
Blaine Crowley, Melanie Ruffner, Donna M McDonald McGinn, Kathleen E Sullivan
The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described...
January 17, 2018: American Journal of Medical Genetics. Part A
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