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Hypogammaglobulinemia

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https://www.readbyqxmd.com/read/27919819/patterns-of-constitutively-phosphorylated-kinases-in-b-cells-are-associated-with-disease-severity-in-common-variable-immunodeficiency
#1
Eli Taraldsrud, Pål Aukrust, Silje Jørgensen, Ole Christian Lingjærde, Johanna Olweus, June H Myklebust, Børre Fevang
Patients with common variable immunodeficiency (CVID) constitute a clinically and immunologically heterogeneous group characterized by B-cell dysfunction with hypogammaglobulinemia and defective immunoglobulin class switch of unknown etiology. Current classification systems are insufficient to achieve precise disease management. Characterization of signaling pathways essential for B-cell differentiation and class switch could provide new means to stratify patients. We evaluated constitutive and induced signaling by phospho-specific flow cytometry in 26 CVID patients and 18 healthy blood donors...
December 2, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27918748/the-cxcl12-cxcr4-signaling-pathway-a-new-susceptibility-factor-in-human-papillomavirus-pathogenesis
#2
Floriane Meuris, Laetitia Carthagena, Agnieszka Jaracz-Ros, Françoise Gaudin, Pasquale Cutolo, Claire Deback, Yuezhen Xue, Françoise Thierry, John Doorbar, Françoise Bachelerie
The productive human papillomavirus (HPV) life cycle is tightly linked to the differentiation and cycling of keratinocytes. Deregulation of these processes and stimulation of cell proliferation by the action of viral oncoproteins and host cell factors underlies HPV-mediated carcinogenesis. Severe HPV infections characterize the wart, hypogammaglobulinemia, infection, and myelokathexis (WHIM) immunodeficiency syndrome, which is caused by gain-of-function mutations in the CXCR4 receptor for the CXCL12 chemokine, one of which is CXCR41013...
December 2016: PLoS Pathogens
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#3
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27888588/lps-responsive-beige-like-anchor-gene-mutation-associated-with-possible-bronchiolitis-obliterans-organizing-pneumonia-associated-with-hypogammaglobulinemia-and-normal-igm-phenotype-and-low-number-of-b-cells
#4
Sima Shokri, Mohammad Nabavi, Tatjana Hirschmugl, Asghar Aghamohammadi, Saba Arshi, Mohamad Hassan Bemanian, Morteza Fallahpour, Rasool Molatefi, Mahsa Rekabi, Narges Eslami, Javad Ahmadian, Kian Darabi, Gholam Reza Sedighi, Maryam Monajemzadeh, Mohammadreza Modaresi, Nima Parvaneh, Kaan Boztug, Nima Rezaei
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP)...
October 2016: Acta Medica Iranica
https://www.readbyqxmd.com/read/27873105/newborn-screening-for-severe-primary-immunodeficiency-diseases-in-sweden-a-2-year-pilot-trec-and-krec-screening-study
#5
Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Rolf H Zetterström, Jovanka King, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström
Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated...
November 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27867589/bruton-s-agammaglobulinemia-in-an-adult-male-due-to-a-novel-mutation-a-case-report
#6
Yuanda Xu, Qi Qing, Xuesong Liu, Sibei Chen, Ziyi Chen, Xuefeng Niu, Yaxia Tan, Weiqun He, Xiaoqing Liu, Yimin Li, Rongchang Chen, Ling Chen
X-linked agammaglobulinemia (XLA) is caused by mutation in the gene coding for Bruton's tyrosine kinase (BTK), which impairs peripheral B cell maturation and hypogammaglobulinemia. In this report, we present a case of XLA in a 22-year-old adult male. Genetic testing revealed a novel mutation located at the conserved region (c.383T>C). The patient had a history of recurrent respiratory tract infection which eventually progressed to chronic type II respiratory failure. Several pathogenic bacteria were isolated on culture of respiratory secretions obtained on bronchoscopy...
October 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27866926/evaluation-of-humoral-immunity-profiles-to-identify-heart-recipients-at-risk-for-development-of-severe-infections-a-multicenter-prospective-study
#7
Elizabeth Sarmiento, Maria Jaramillo, Leticia Calahorra, Juan Fernandez-Yañez, Miguel Gomez-Sanchez, Maria G Crespo-Leiro, Maria Paniagua, Luis Almenar, Monica Cebrian, Gregorio Rabago, Beltran Levy, Javier Segovia, Manuel Gomez-Bueno, Javier Lopez, Sonia Mirabet, Joaquin Navarro, Juan Jose Rodriguez-Molina, Eduardo Fernandez-Cruz, Javier Carbone
BACKGROUND: New biomarkers are necessary to improve detection of the risk of infection in heart transplantation. We performed a multicenter study to evaluate humoral immunity profiles that could better enable us to identify heart recipients at risk of severe infections. METHODS: We prospectively analyzed 170 adult heart recipients at 8 centers in Spain. Study points were before transplantation and 7 and 30 days after transplantation. Immune parameters included IgG, IgM, IgA and complement factors C3 and C4, and titers of specific antibody to pneumococcal polysaccharide antigens (anti-PPS) and to cytomegalovirus (CMV)...
October 17, 2016: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/27849230/primary-hypogammaglobulinemia-the-impact-of-early-diagnosis-in-lung-complications
#8
Mayra de Barros Dorna, Cristiane de Jesus Nunes Dos Santos, Ana Paula Beltran Moschione Castro, Luiz Antônio Nunes de Oliveira, Lisa Suzuki, Andrea Langone Ferme, Magda Maria Sales Carneiro-Sampaio, Antonio Carlos Pastorino
Objective: To describe clinical features, tomographic findings and pulmonary function in pediatric patients with primary hypogammaglobulinemia (PH). Method: A retrospective cohort study of children with PH who received intravenous immunoglobulin (IVIG) and prophylactic antibiotics between 2005 and 2010. Epidemiological and clinical features, computed tomography (CT) findings, and spirometric data were compared, assuming a 5% significance level. Results: We evaluated 30 patients with PH...
September 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27820131/immune-dysfunction-after-completion-of-childhood-leukemia-therapy
#9
Joanna L Perkins, Anne Harris, Tamara C Pozos
BACKGROUND: Children with leukemia suffer immune dysfunction from their malignancy and chemotherapy. The immune system components most affected, the degree to which immune suppression occurs, and the duration of immunodeficiency are incompletely characterized. This study measures immunologic parameters following completion of therapy. METHODS: This is a prospective, single institution cohort study. Eligible children with acute myelogenous or acute lymphoblastic leukemia diagnosed between 1 and 21 years of age were enrolled at therapy completion...
November 4, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27796249/rituximab-related-late-onset-neutropenia-in-kidney-transplant-recipients-treated-for-antibody-mediated-acute-rejection
#10
Fatemeh Ahmadi, Simin Dashti-Khavidaki, Mohammad-Reza Khatami, Mahboob Lessan-Pezeshki, Hossein Khalili, Malihe Khosravi
OBJECTIVES: Kidney transplant is a new area for use of rituximab, which is being used to treat acute antibody-mediated rejection or as an induction agent in ABO- or HLA-incompatible grafts. We report on late-onset neutropenia in rituximab-treated kidney transplant recipients with antibody-mediated rejection. MATERIALS AND METHODS: This observational prospective study was performed on kidney transplant recipients with clinically suspicious or biopsy-proven antibody-mediated rejection treated with plasmapheresis plus intravenous immunoglobulin with (cases) or without (controls) rituximab...
October 31, 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27760047/targeted-antibody-mediated-depletion-of-murine-cd19-car-t-cells-permanently-reverses-b-cell-aplasia
#11
Paulina J Paszkiewicz, Simon P Fräßle, Shivani Srivastava, Daniel Sommermeyer, Michael Hudecek, Ingo Drexler, Michel Sadelain, Lingfeng Liu, Michael C Jensen, Stanley R Riddell, Dirk H Busch
The adoptive transfer of T cells that have been genetically modified to express a CD19-specific chimeric antigen receptor (CAR) is effective for treating human B cell malignancies. However, the persistence of functional CD19 CAR T cells causes sustained depletion of endogenous CD19+ B cells and hypogammaglobulinemia. Thus, there is a need for a mechanism to ablate transferred T cells after tumor eradication is complete to allow recovery of normal B cells. Previously, we developed a truncated version of the epidermal growth factor receptor (EGFRt) that is coexpressed with the CAR on the T cell surface...
November 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27760045/deficiency-of-base-excision-repair-enzyme-neil3-drives-increased-predisposition-to-autoimmunity
#12
Michel J Massaad, Jia Zhou, Daisuke Tsuchimoto, Janet Chou, Haifa Jabara, Erin Janssen, Salomé Glauzy, Brennan G Olson, Henner Morbach, Toshiro K Ohsumi, Klaus Schmitz, Markianos Kyriacos, Jennifer Kane, Kumiko Torisu, Yusaku Nakabeppu, Luigi D Notarangelo, Eliane Chouery, Andre Megarbane, Peter B Kang, Eman Al-Idrissi, Hasan Aldhekri, Eric Meffre, Masayuki Mizui, George C Tsokos, John P Manis, Waleed Al-Herz, Susan S Wallace, Raif S Geha
Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we have identified a homozygous missense mutation in the gene encoding the base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished enzymatic activity in 3 siblings from a consanguineous family. The NEIL3 mutation was associated with fatal recurrent infections, severe autoimmunity, hypogammaglobulinemia, and impaired B cell function in these individuals. The same homozygous NEIL3 mutation was also identified in an asymptomatic individual who exhibited elevated levels of serum autoantibodies and defective peripheral B cell tolerance, but normal B cell function...
November 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27758967/intravenous-immune-globulin-stewardship-program-at-a-tertiary-academic-medical-center
#13
Megan A Rocchio, James W Schurr, Aaron P Hussey, Paul M Szumita
BACKGROUND: In October 2010, a pharmacist-driven stewardship program was implemented at the Brigham and Women's Hospital to ensure continued adherence to the prescribing guideline, focusing on indications for intravenous immune globulin (IVIG) use and dosing per ideal body weight. OBJECTIVE: The primary objective was to describe an IVIG stewardship program at a tertiary academic medical center. METHODS: This was a prospective, observational study from January 2013 through December 2014...
October 6, 2016: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/27747531/rituximab-for-rheumatoid-arthritis
#14
Marc D Cohen, Edward Keystone
Rituximab is a chimeric monoclonal antibody directed at the CD20 molecule on the surfaces of some but not all B cells. It depletes almost all peripheral B cells, but other niches of B cells are variably depleted, including synovium. Its mechanism of action in rheumatoid arthritis (RA) is only partially understood. Rituximab was efficacious in clinical trials of patients with RA, including those who are methotrexate naïve, those with an incomplete response to methotrexate, and those with an incomplete response to tumor necrosis factor inhibitors...
December 2015: Rheumatol Ther
https://www.readbyqxmd.com/read/27735798/transient-hypogammaglobulinemia-of-infancy-predictive-factors-for-late-recovery
#15
Murat Sütçü, Hacer Aktürk, Nuran Salman, Deniz Özçeker, Sezen Gülümser-Şişko, Manolya Acar, Ayper Somer
This study evaluates the clinical/immunological features and outcomes of 91 patients with the diagnosis of transient hypogammaglobulinemia of infancy(THI). Mean age at diagnosis was 8.4±5.2 months. IgG levels normalized at 30.6±11.88 months. Sixty three patients (69.3%) resolved in their first 3 years of life and 28 patients (30.7%) thereafter. In the univariate analysis, presence of atopy, occurrence of recurrent infections (>6/year) and hospitalization, initial low IgA and IgM levels were found to be associated with the late recovery...
November 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27734333/a-novel-mutation-in-a-critical-region-for-the-methyl-donor-binding-in-dnmt3b-causes-immunodeficiency-centromeric-instability-and-facial-anomalies-syndrome-icf
#16
Erez Rechavi, Atar Lev, Eran Eyal, Ortal Barel, Nitzan Kol, Sarit Farage Barhom, Ben Pode-Shakked, Yair Anikster, Raz Somech, Amos J Simon
PURPOSE: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also develops in some patients. We sought to further investigate the immune defect in an ICF patient with a novel missense mutation in DNMT3B and a severe phenotype. METHODS: Patient lymphocytes were examined for subset counts, immunoglobulin levels, T and B cell de novo production (via excision circles) and receptor repertoire diversity...
November 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27725541/chronic-hepatitis-e-infection-in-a-persistently-immunosuppressed-patient-unable-to-be-eliminated-after-ribavirin-therapy
#17
Masato Miyoshi, Sei Kakinuma, Yoko Tanabe, Koji Ishii, Tian-Cheng Li, Takaji Wakita, Yukio Tsuura, Hideki Watanabe, Yasuhiro Asahina, Mamoru Watanabe, Takaaki Ikeda
Recent case reports have shown that hepatitis E virus (HEV) infection can cause chronic hepatitis in immunosuppressed or immunocompromised patients. A 37-year-old woman suffered from prolonged elevation of aminotransferases after chemotherapy for Burkitt's lymphoma and was diagnosed with chronic hepatitis E due to a transfusion during chemotherapy. After an 8-month administration of ribavirin, complete HEV clearance was not achieved, likely due to prolonged hypogammaglobulinemia. This case indicates that HEV infection should be ruled out during liver dysfunction in immunosuppressed or immunocompromised patients and suggests that an alternative therapeutic strategy for such patients will be needed...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27718085/hypogammaglobulinemia-in-infants-receiving-chronic-peritoneal-dialysis
#18
Shwetal Lalan, Hongying Dai, Bradley A Warady
BACKGROUND: Peritonitis is a severe complication of chronic peritoneal dialysis (CPD) in infants. Few studies have been conducted to evaluate the relationship between hypogammaglobulinemia and peritonitis risk, and the potential benefit of intravenous immunoglobulins (IVIG) therapy in infants receiving CPD. METHODS: Patients aged 0-12 months at initiation of CPD between 1985 and 2012 were eligible for inclusion in this retrospective study. Data collected from the start of CPD up to 2 years post-dialysis initiation included patient demographics, dialysis characteristics, serum immunoglobulin (IgG) levels, IVIG administration history, infectious complications and outcomes...
October 7, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27714565/asthma-and-hypogammaglobulinemia-an-asthma-phenotype-with-low-type-2-inflammation
#19
Clairelyne Dupin, Sylvain Marchand-Adam, Olivier Favelle, Romain Costes, Philippe Gatault, Philippe Diot, Leslie Grammatico-Guillon, Laurent Guilleminault
PURPOSE: Little is known about hypogammaglobulinemia (HGG) in asthma patients. No data are available on the characteristics of adult patients with asthma and HGG. METHODS: We conducted a retrospective monocentric study between January 2006 and December 2012. Asthma patients with a serum immunoglobulin (Ig) quantitative analysis were included and classified into two groups depending on their serum IgG concentration: presence or absence of HGG. Clinical, biological, functional, and radiologic characteristics were compared in univariate and multivariate analysis, using a logistic regression model...
October 6, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27685423/secondary-combined-immunodeficiency-in-pediatric-patients-after-the-fontan-operation-three-case-reports
#20
Eva Hlavackova, Martin Liska, Hana Jicinska, Jiri Navratil, Jiri Litzman
The Fontan operation or total cavopulmonal connection (TCPC) is a palliative surgical correction of rare and complex inborn cardiac malformations that are characterized by univentricular circulation. Protein-losing enteropathy (PLE) develops in 4-13% of patients after the Fontan procedure. Fontan-related PLE leads to secondary combined immunodeficiency marked by hypogammaglobulinemia and predominantly CD4+ lymphocytopenia. Here, we present 3 case reports of patients with secondary immunodeficiency after the Fontan operation...
September 30, 2016: International Archives of Allergy and Immunology
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