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Common variable immunodeficiency

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https://www.readbyqxmd.com/read/28643018/heterogeneity-of-gata2-related-myeloid-neoplasms
#1
REVIEW
Shinsuke Hirabayashi, Marcin W Wlodarski, Emilia Kozyra, Charlotte M Niemeyer
The GATA2 gene codes for a master hematopoietic transcription factor that is essential for the proliferation and maintenance of hematopoietic stem and progenitor cells. Heterozygous germline mutations in GATA2 have been initially associated with several clinical entities that are now collectively defined as GATA2 deficiency. Despite pleiotropic clinical manifestations, the high propensity for the development of myelodysplastic syndromes (MDS) constitutes the most common clinical denominator of this major MDS predisposition syndrome...
June 22, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28641569/a-review-on-defects-of-dendritic-cells-in-common-variable-immunodeficiency
#2
Laleh Sharifi, Naeimeh Tavakolinia, Fatemeh Kiaee, Nima Rezaie, Monireh Mohsenzadegan, Mansoureh Shariat, Reza Yazdani, Abbas Mirshafiey, Asghar Aghamohammadi, Gholamreza Azizi
BACKGROUND AND OBJECTIVES: Common variable immunodeficiency (CVID) is the most important primary that is associated with clinical complications including recurrent infections, malignancy and autoimmune diseases. The genetic cause of CVID is mostly unknown and only a few genetic causes are identified. The various options are proposed for determining the etiology of CVID patients, such as T- and B-cell defects, Toll-like receptors (TLRs) impairments, altered cytokine production as well as blemished dendritic cells (DCs)...
June 13, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28623346/early-onset-primary-antibody-deficiency-resembling-common-variable-immunodeficiency-challenges-the-diagnosis-of-wiedeman-steiner-and-roifman-syndromes
#3
Delfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P Leroy, Julie E Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N Lambrecht, Frans De Baets, Sergio D Rosenzweig, Elfride De Baere, Filomeen Haerynck
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28622951/population-approach-to-efavirenz-therapy
#4
Hélder Duarte, João Paulo Cruz, Natália Aniceto, Ana Clara Ribeiro, Ana Fernandes, Paulo Paixão, Francisco Antunes, José Morais
Efavirenz (EFV) is a non-nucleoside reverse transcriptase inhibitor commonly used as first line therapy in the treatment of human immunodeficiency virus, with a narrow therapeutic range and a high between-subject variability which can lead to central nervous system toxicity or therapeutic failure. To characterize the sources of variability and better predict EFV steady state plasma concentrations, a population pharmacokinetic model was developed form 96 HIV positive individuals, using a nonlinear mixed effect method with Monolix® software...
June 13, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28611475/murine-lrba-deficiency-causes-ctla-4-deficiency-in-tregs-without-progression-to-immune-dysregulation
#5
Deborah Burnett, Ian Parish, Etienne Masle-Farquhar, Robert Brink, Christopher Goodnow
Inherited mutations in Lipopolysaccharide Responsive Beige-like Anchor (LRBA) cause a recessive human immune dysregulation syndrome with memory B cell and antibody deficiency (common variable immunodeficiency, CVID), inflammatory bowel disease, enlarged spleen and lymph nodes, accumulation of activated T cells, and multiple autoimmune diseases. To understand the pathogenesis of the syndrome, C57BL/6 mice carrying a homozygous truncating mutation in Lrba were produced using CRISPR/Cas9-mediated gene targeting...
June 14, 2017: Immunology and Cell Biology
https://www.readbyqxmd.com/read/28606051/comparison-of-bone-mineral-density-in-common-variable-immunodeficiency-and-x-linked-agammaglobulinaemia-patients
#6
Ali Mohebbi, Gholamreza Azizi, Naeimeh Tavakolinia, Mehdi Karimipour, Fatemeh Kiaee, Reza Yazdani, Sareh Sadat Ebrahimi, Hosein Rafiemanesh, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi, Farzaneh Abbasi, Fatemeh Sayarifard, Mehran Ebrahimi, Javad Tafaroji
BACKGROUND: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. In the present study, our aim was to evaluate bone mineral density (BMD) of patients with CVID and XLA...
June 11, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28603710/use-of-non-prescription-remedies-by-ghanaian-human-immunodeficiency-virus-positive-persons-on-antiretroviral-therapy
#7
Amos K Laar, Awewura Kwara, Priscillia A Nortey, Augustine K Ankomah, Michael P K Okyerefo, Margaret Y Lartey
BACKGROUND: Inappropriate use of non-prescription remedies by persons living with human immunodeficiency virus (PLHIV) may result in adverse events or potentiate non-adherence to prescribed medications. This study investigated the use of non-prescription remedies among PLHIV receiving antiretroviral therapy (ART) from four treatment centers in southern Ghana. METHODS: A mixed method design using quantitative and qualitative methods was used. This article focuses on the quantitative survey of 540 respondents...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28600865/immune-deficiency-and-autoimmunity-in-patients-with-ctla-4-mutations
#8
REVIEW
Nisha Verma, Siobhan O Burns, Lucy Sk Walker, David M Sansom
Immune deficiency disorders are a heterogeneous group of diseases of variable genetic aetiology. Whilst the hallmark of immunodeficiency is susceptibility to infection, it is increasingly clear that autoimmunity is prevalent suggestive of a more general immune dysregulation in some cases. With the increasing use of genetic technologies the underlying causes of immune dysregulation are beginning to emerge. Here we provide a review of the heterozygous mutations found in the immune checkpoint protein CTLA-4, which was originally identified in cases of Common Variable Immunodeficiency Disorders (CVID) with accompanying autoimmunity...
June 10, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28591035/a-case-report-of-lymphoid-intestitial-pneumonia-in-common-variable-immunodeficiency-oligoclonal-expansion-of-effector-lymphocytes-with-preferential-cytomegalovirus-specific-immune-response-and-lymphoproliferative-disease-promotion
#9
Przemyslaw Zdziarski, Andrzej Gamian, Grzegorz Dworacki
RATIONALE: Lymphoid interstitial pneumonia (LIP) is a rare disease with lymphocytic infiltration of the alveolar interstitial and air spaces, sometimes classified as a clonal lymphoproliferative disease (LPD) with high prevalence in patients with immunodysregulation. Although association of mucosa-associated lymphoid tissue (MALT) lymphoma development with infectious agents has been well described, it is not so in the case of LIP. Attempts to demonstrate an infective cause by direct microbe detection have failed, but association with atypical specific immune response to opportunistic infectious agent has not been studied...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28583689/granulomatous-lymphocytic-interstitial-lung-disease-in-a-patient-with-common-variable-immunodeficiency
#10
Jehan L Shah, Sagar B Amin, Nupur Verma, Tan-Lucien Mohammed
Common variable immunodeficiency is the most common primary immunodeficiency and consists of impaired immunoglobulin production causing recurrent sinopulmonary infections. The most common cause of mortality for this disorder, however, is from the development of malignancy and autoimmune disorders. One common entity that develops is a systemic granulomatous and lymphoproliferative disorder that can cause an interstitial lung disease more formally referred to as granulomatous-lymphocytic interstitial lung disease (GL-ILD)...
April 14, 2017: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28554560/th1-phenotype-of-t-follicular-helper-cells-indicates-an-ifn%C3%AE-associated-immune-dysregulation-in-cd21low-cvid-patients
#11
Susanne Unger, Maximilian Seidl, Pauline van Schouwenburg, Mirzokhid Rakhmanov, Alla Bulashevska, Natalie Frede, Bodo Grimbacher, Jens Pfeiffer, Klaudia Schrenk, Luis Munoz, Leif Hanitsch, Ina Stumpf, Fabian Kaiser, Oliver Hausmann, Florian Kollert, Sigune Goldacker, Mirjam van der Burg, Baerbel Keller, Klaus Warnatz
BACKGROUND: A subgroup of patients with Common Variable Immunodeficiency (CVID) suffers from immune dysregulation, manifesting as autoimmunity, lymphoproliferation and organ inflammation, and thereby increasing morbidity and mortality. Therefore, treatment of these complications demands a deeper comprehension of their etiology and pathophysiology. OBJECTIVES: Based on the identification of an Interferon (IFN) signature in CVID patients with secondary complications and a skewed T follicular helper cell (TFH) differentiation in defined monogenic immunodeficiencies, we sought to determine the profile of CD4 memory T cells in blood and secondary lymphatic tissues of these patients...
May 26, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28551598/novel-variant-of-common-variable-immunodeficiency
#12
Eileen Conaway
A 57-year-old woman with frequent respiratory infections was initially diagnosed with IgG subclass deficiency based on low levels of IgG subclasses 2 and 3. Three years later, she progressed to having IgA deficiency as well. With a normal total IgG level, she does not meet criteria for common variable immunodeficiency (CVID). This may represent a variant of CVID. This also highlights the importance of immunoglobulin subclass estimation in patients where immunodeficiency is suspected clinically. She is being treated with rotational antibiotics the first 10 days of every month, monthly intravenous immunoglobulin (IVIG) infusion and osteopathic manipulation one to two times per month...
May 27, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28546693/disseminated-rhinosporidiosis-with-conjunctival-involvement-in-an-immunocompromised-patient
#13
Deepa John, Satheesh S T Selvin, Aparna Irodi, Pushpa Jacob
Rhinosporidiosis is a granulomatous infection of mucocutaneous tissue caused by Rhinosporidium seeberi that most commonly occurs in the nasal cavity. Ocular rhinosporidiosis affects primarily the conjunctiva. Diagnosis of rhinosporidiosis is based on strong clinical suspicion and is confirmed by histopathological examination. We report a rare case of conjunctival rhinosporidiosis in an immunocompromised patient (human immunodeficiency virus) with disseminated cutaneous rhinosporidiosis. A 44-year-old male presented with a swelling in the right upper eyelid for 6 months...
January 2017: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#14
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28536745/health-related-quality-of-life-in-adult-patients-with-common-variable-immunodeficiency-disorders-and-impact-of-treatment
#15
Nicholas L Rider, Carleigh Kutac, Joud Hajjar, Chris Scalchunes, Filiz O Seeborg, Marcia Boyle, Jordan S Orange
PURPOSE: Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. The purpose of a recent Immune Deficiency Foundation (IDF) mail survey was to assess the factors that are associated with QOL in patients with CVID receiving Ig treatment...
May 23, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28534034/clinical-and-mucosal-immune-correlates-of-hiv-1-semen-levels-in-antiretroviral-naive-men
#16
Brendan J W Osborne, Angie K Marsh, Sanja Huibner, Kamnoosh Shahabi, Cindy Liu, Tania Contente, Nico J D Nagelkerke, Colin Kovacs, Erika Benko, Lance Price, Kelly S MacDonald, Rupert Kaul
BACKGROUND: This study was done to characterize parameters associated with semen human immunodeficiency virus (HIV)-1 ribonucleic acid (RNA) viral load (VL) variability in HIV-infected, therapy-naive men. METHODS: Paired blood and semen samples were collected from 30 HIV-infected, therapy-naive men who have sex with men, and 13 participants were observed longitudinally for up to 1 year. Human immunodeficiency virus RNA, bacterial load by 16S RNA, herpesvirus (Epstein-Barr virus and cytomegalovirus [CMV]) shedding, and semen cytokines/chemokines were quantified, and semen T-cell subsets were assessed by multiparameter flow cytometry...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28513998/ibd-due-to-pid-inflammatory-bowel-disease-caused-by-primary-immunodeficiencies-clinical-presentations-review-of-literature-and-proposal-of-a-rational-diagnostic-algorithm
#17
REVIEW
Daniel Tegtmeyer, Maximilian Seidl, Patrick Gerner, Ulrich Baumann, Christian Klemann
Inflammatory bowel diseases (IBD) including Crohn's disease (CD) and ulcerative colitis (UC) have a multifactorial pathogenesis with complex interactions between polygenetic predispositions and environmental factors. However, IBD can also be caused by monogenic diseases, such as primary immunodeficiencies (PID). Recently, an increasing number of these altogether rare diseases has been described to present often primarily, or solely as IBD. Early recognition of these conditions enables adaption of therapies and thus directly benefits the course of IBDs...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28512785/clinical-immunological-molecular-analyses-and-outcomes-of-iranian-patients-with-lrba-deficiency-a-longitudinal-study
#18
Gholamreza Azizi, Hassan Abolhassani, Seyed Alireza Mahdaviani, Zahra Chavoshzadeh, Peyman Eshghi, Reza Yazdani, Fatemeh Kiaee, Mohammadreza Shaghaghi, Javad Mohammadi, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity and enteropathy. METHODS: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory and molecular data were collected. RESULTS: Hypogammaglobulinemia were reported in 14 (82...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28493158/common-variable-immunodeficiency-caused-by-fanc-mutations
#19
Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama
Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4(+) T cells were skewed toward CD45RO(+) memory T cells. T-cell receptor excision circles (TRECs) and signal joint kappa-deleting recombination excision circles (sjKRECs) were undetectable in both patients...
May 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28488125/recurrent-infections-in-a-patient-with-psoriatic-arthritis-and-hypogammaglobulinemia-treated-with-conventional-and-biologic-disease-modifying-anti-rheumatic-drugs-a-primary-or-secondary-entity
#20
REVIEW
Ewa Więsik-Szewczyk, Aleksandra Kucharczyk, Katarzyna Świerkocka, Elżbieta Rutkowska, Karina Jahnz-Różyk
A 54-year-old man with confirmed psoriatic arthritis, treated with conventional and biologic disease-modifying anti-rheumatic drugs, suffered from severe, recurrent respiratory tract infections. He was found to have hypogammaglobulinemia. Further investigations confirmed the diagnosis of common variable immunodeficiency. Introduction of immunoglobulin G replacement therapy allowed for safe and effective treatment of psoriatic arthritis with etanercept and methotrexate. Patients with a history of recurrent infections on disease-modifying anti-rheumatic drugs and hypogammaglobulinemia should be assessed for primary antibody immunodeficiencies, even in adulthood...
May 9, 2017: Clinical Rheumatology
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