keyword
MENU ▼
Read by QxMD icon Read
search

Agammaglobulinemia

keyword
https://www.readbyqxmd.com/read/27869430/-sepsis-due-to-pseudomona-as-a-debut-of-a-primary-immunodeficiency-in-a-child
#1
M Cristina Vera Sáez-Benito, Marta López Úbeda, Paula Madurga Revilla, Antonio de Arriba Muñoz, Matilde Bustillo Alonso, Carmen Rodríguez-Vigil Iturrate
X-linked agammaglobulinemia is a primary humoral immunodeficiency. It is a recessive X-linked disorder characterized by low or absent circulating mature B cells, hypo/agammaglobulinemia and no humoral response to immunizations due to mutations along chromosome X. It is characterized by severe, recurrent and difficult treatment infections. It is diagnosed in the first 6 months of life in children; the only sign of alarm is the absent or decreased size of tonsils and lymph nodes, but it is not always present...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27867589/bruton-s-agammaglobulinemia-in-an-adult-male-due-to-a-novel-mutation-a-case-report
#2
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/27795213/-clinic-of-humoral-primary-immunodeficiencies-in-adults-experience-in-a-tertiary-hospital
#3
Julio César Cambray-Gutiérrez, Diana Andrea Herrera-Sánchez, Lizbeth Blancas-Galicia, Patricia María O'Farrill-Romanillos
BACKGROUND: Primary immunodeficiencies (PID) are characterized by alteration of the components of the immune system. Humoral deficiencies represent 50%. The most common are selective IgA deficiency, Bruton agammaglobulinemia, and common variable immunodeficiency (CVID). OBJECTIVE: To describe the epidemiological and clinical characteristics of adults with humoral PID, cared for in a Primary Humoral Immunodeficiencies Clinic. METHODS: A descriptive cross-sectional study that included a year of analysis, including 35 patients with humoral PID, 31 with CVID, and 4 with Bruton agammaglobulinemia...
October 2016: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/27722150/gastric-adenocarcinoma-in-a-patient-with-x-linked-agammaglobulinemia-and-hiv-case-report-and-review-of-the-literature
#4
Joud Hajjar, Sana Hasan, Lisa R Forbes, Vagish Hemmige, Jordan S Orange
No abstract text is available yet for this article.
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27669440/from-identification-of-the-btk-kinase-to-effective-management-of-leukemia
#5
C I E Smith
BTK is a cytoplasmic protein-tyrosine kinase, whose corresponding gene was isolated in the early 1990s. BTK was initially identified by positional cloning of the gene causing X-linked agammaglobulinemia and independently in a search for new kinases. Given the phenotype of affected patients, namely lack of B-lymphocytes and plasma cells with the ensuing inability to mount humoral immune responses, BTK inhibitors were anticipated to have beneficial effects on antibody-mediated pathologies, such as autoimmunity...
September 26, 2016: Oncogene
https://www.readbyqxmd.com/read/27641927/ibrutinib-inhibition-of-bruton-protein-tyrosine-kinase-btk-in-the-treatment-of-b-cell-neoplasms
#6
REVIEW
Robert Roskoski
The Bruton non-receptor protein-tyrosine kinase (BTK), a deficiency of which leads to X-linked agammaglobulinemia, plays a central role in B cell antigen receptor signaling. Owing to the exclusivity of this enzyme in B cells, the acronym could represent B cell tyrosine kinase. BTK is activated by the Lyn and SYK protein kinases following activation of the B cell receptor. BTK in turn catalyzes the phosphorylation and activation of phospholipase Cγ2 leading to the downstream activation of the Ras/RAF/MEK/ERK pathway and the NF-κB pathways...
November 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27640319/treatment-of-chronic-enterovirus-encephalitis-with-fluoxetine-in-a-patient-with-x-linked-agammaglobulinemia
#7
Jacqueline Gofshteyn, Ana María Cárdenas, David Bearden
INTRODUCTION: Enterovirus may result in a devastating chronic encephalitis in immunocompromised patients, particularly in patients with X-linked agammaglobulinemia. Prognosis for patients with chronic enterovirus encephalitis is poor, almost invariably resulting in mortality without specific treatment. There are currently no approved antiviral agents for enterovirus, but the antidepressant drug fluoxetine has been identified through library-based compound screening as a potential anti-enteroviral agent in vitro...
June 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27636936/-pulmonary-manifestations-in-adult-patients-with-a-defect-in-humoral-immunity
#8
T V Latysheva, E A Latysheva, I A Martynova, G E Aminova
Primary immunodeficiencies (PIDs) are a group of congenital diseases of the immune system, which numbers more than 230 nosological entities associated with lost, decreased, or wrong function of its one or several components. Due to the common misconception that these are extremely rare diseases that occur only in children and lead to their death at an early age, PIDs are frequently ruled out by physicians of related specialties from the range of differential diagnosis. The most common forms of PIDs, such as humoral immunity defects, common variable immune deficiency, X-linked agammaglobulinemia, selective IgA deficiency, etc...
2016: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/27604394/vesicourethral-reflux-induced-renal-failure-in-a-patient-with-icf-syndrome-due-to-a-novel-dnmt3b-mutation
#9
Seyhan Kutluğ, Gönül Ogur, Aysegül Yilmaz, Peter E Thijssen, Ummet Abur, Alisan Yildiran
ICF syndrome is a primary immunodeficiency disease characterized by hypo- or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity of hypogammaglobulinemia, facial anomalies, and neuromotor growth retardation. Metaphase chromosome analysis revealed centromeric instability on chromosomes 1, 9, and 16 and through Sanger a previously unreported homozygous missense mutation (c...
September 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27593100/x-linked-agammaglobulinemia-twenty-years-of-single-center-experience-from-north-west-india
#10
Surjit Singh, Amit Rawat, Deepti Suri, Anju Gupta, Ravinder Garg, Biman Saikia, Ranjana Walker Minz, Shobha Sehgal, Koon-Wing Chan, Yu Lung Lau, Chikako Kamae, Kenichi Honma, Noriko Nakagawa, Kohsuke Imai, Shigeaki Nonoyama, Koichi Oshima, Noriko Mitsuiki, Osamu Ohara
BACKGROUND: X-linked agammaglobulinemia (XLA) is an X-linked genetic defect in maturation of B lymphocytes that results in the absence of B lymphocytes in the peripheral blood and profound hypogammaglobulinemia. It is caused by a mutation in the BTK gene located on the X chromosome. There are no large series describing XLA from the developing world. OBJECTIVE: To analyze the clinical features, immunologic and genetic characteristics, and outcomes of 36 patients with XLA diagnosed and managed for a period of 2 decades...
October 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27576013/autosomal-recessive-agammaglobulinemia-associated-with-an-igll1-gene-missense-mutation
#11
Kristina T Gemayel, Gary W Litman, Panida Sriaroon
No abstract text is available yet for this article.
October 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27543875/shulman-disease-eosinophilic-fasciitis-in-x-linked-agammaglobulinemia
#12
A Pituch-Noworolska, H Mach-Tomalska, A Szaflarska, D Adamek
X-linked agammaglobulinemia (XLA) diagnosed in the first year of life is an immunodeficiency with a life-long indication for substitution of immunoglobulins, due to lack of B lymphocytes in the periphery. The decrease of bacterial infection frequency and severity is an effect of immunoglobulin replacement. However, in the majority of patients bronchiectasis and chronic sinusitis with an overgrown mucous membrane develop despite regular substitution. Autoimmune diseases as co-existing diseases in XLA are noted in a few patients presenting symptoms associated with arthritis, scleroderma and myositis...
June 2016: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
https://www.readbyqxmd.com/read/27512878/clinical-characteristics-and-genetic-profiles-of-174-patients-with-x-linked-agammaglobulinemia-report-from-shanghai-china-2000-2015
#13
Xia-Fang Chen, Wei-Fan Wang, Yi-Dan Zhang, Wei Zhao, Jing Wu, Tong-Xin Chen
X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship between specific BTK gene mutations and severity of clinical manifestations was also examined. Mutations were graded from mild to severe based on structural and functional prediction through bioinformatics analysis...
August 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27476377/-ecthyma-gangrenosum-of-the-eyelid-after-chickenpox
#14
M-S Ouédraogo, N Korsaga Somé, G-P Tapsoba, A-N Ouédraogo, K-A Sondo, I-A Inouss, M-L Sanou, T Konsem, J Sakandé, F Barro Traoré, P Niamba, A Traoré
BACKGROUND: Ecthyma gangrenosum is an acute ulcer necrotic skin infection frequently caused by Pseudomonas aeruginosa. It is characterised by necrotic ulcerations circumscribed by an inflammatory halo. Lesions are normally found in the anal, genital and axillary regions. Ecthyma gangrenosum is most commonly seen in immunodepressed patients (cytotoxic chemotherapy, HIV infection, neutropenia or functional neutrophil deficiency, agammaglobulinemia). It is a rarely described complication in chicken pox...
October 2016: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27434128/preclinical-evaluation-of-the-novel-btk-inhibitor-acalabrutinib-in-canine-models-of-b-cell-non-hodgkin-lymphoma
#15
Bonnie K Harrington, Heather L Gardner, Raquel Izumi, Ahmed Hamdy, Wayne Rothbaum, Kevin R Coombes, Todd Covey, Allard Kaptein, Michael Gulrajani, Bart Van Lith, Cecile Krejsa, Christopher C Coss, Duncan S Russell, Xiaoli Zhang, Bridget K Urie, Cheryl A London, John C Byrd, Amy J Johnson, William C Kisseberth
Acalabrutinib (ACP-196) is a second-generation inhibitor of Bruton agammaglobulinemia tyrosine kinase (BTK) with increased target selectivity and potency compared to ibrutinib. In this study, we evaluated acalabrutinib in spontaneously occurring canine lymphoma, a model of B-cell malignancy similar to human diffuse large B-cell lymphoma (DLBCL). First, we demonstrated that acalabrutinib potently inhibited BTK activity and downstream effectors in CLBL1, a canine B-cell lymphoma cell line, and primary canine lymphoma cells...
2016: PloS One
https://www.readbyqxmd.com/read/27357411/comprehensive-activities-to-increase-recognition-of-primary-immunodeficiency-and-access-to-immunoglobulin-replacement-therapy-in-poland
#16
Małgorzata Pac, Ewa Bernatowska
UNLABELLED: The study presents an overview on current situation of primary immunodeficiency (PID) patients in Poland and the 2014 annual report of the Polish Working Group for Immunodeficiency (PWGID). The group was set up in 2005 to improve diagnosis, treatment, and care of patients with immunodeficiencies and currently includes 15 pediatric and 13 adult centers. According to PWGID report 4099, PID patients are recognized in Poland, with the prevalence 10.6/100,000. The majority of them (54...
August 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27312172/from-immune-substitution-to-immunomodulation
#17
Volker Wahn
Intravenous immunoglobulins (IVIGs) are currently used in many fields of medicine for replacement and immunomodulation. This review focuses on the milestones in the history of human immunoglobulins since the initial observation by Ogden C. Bruton who described replacement therapy in a boy with agammaglobulinemia. Since then, the preparations used for treatment have been markedly improved with respect to tolerability, clinical efficacy, and pathogen safety. Preparations and appropriate pumps for subcutaneous administration of IgG have been developed and offer an alternative mode of treatment for immunodeficient patients...
April 2016: Seminars in Hematology
https://www.readbyqxmd.com/read/27246439/development-of-a-low-cost-stem-loop-real-time-quantification-pcr-technique-for-ebv-mirna-expression-analysis
#18
Massimiliano Bergallo, Chiara Merlino, Davide Montin, Ilaria Galliano, Stefano Gambarino, Katia Mareschi, Franca Fagioli, Paola Montanari, Silvana Martino, Pier-Angelo Tovo
MicroRNAs (miRNAs) are short, single stranded, non-coding RNA molecules. They are produced by many different species and are key regulators of several physiological processes. miRNAs are also encoded by the genomes of multiple virus families, such as herpesvirus family. In particular, miRNAs from Epstein Barr virus were found at high concentrations in different associated pathologies, such as Burkitt's lymphoma, Hodgkin disease, and nasopharyngeal carcinoma. Thanks to their stability, these molecules could possibly serve as biomarkers for EBV-associated diseases...
September 2016: Molecular Biotechnology
https://www.readbyqxmd.com/read/27187624/primary-immunodeficiency-and-recalcitrant-chronic-sinusitis-a-systematic-review
#19
Jill M Mazza, Sandra Y Lin
BACKGROUND: A subset of patients with chronic rhinosinusitis (CRS) has disease refractory to standard therapies. Primary immunodeficiency should be considered in this group. Past literature has demonstrated an association between immunodeficiency and chronic sinusitis. METHODS: A systematic literature search was performed using OVID, MEDLINE, EMBASE, and Cochrane databases to identify English language papers containing original human data on subjects with primary immunodeficiency and chronic sinusitis...
May 17, 2016: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/27143082/-primary-hypogammaglobulinemia-complicated-with-liver-cirrhosis-and-literature-review
#20
Z H Deng, L R Jiang, B Zhang, Y Z Xu, C H Shen, T Zhou, Q Xia, T A Zhang
OBJECTIVE: To explore the pathogenesis, treatment and prognosis of primary hypogammaglobulinemia complicated with liver cirrhosis in a child. METHOD: Pathogenesis, treatment and prognosis of X-linked agammaglobulinemia (XLA ) complicated with liver cirrhosis in a child were analyzed in Shanghai Children's Medical Center.Using"primary hypogammaglobulinemia"and"liver cirrhosis"as keywords, literatures were searched from Pubmed and Chinese data of Weipu and Wanfang data from January 1988 to January 2015...
May 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
keyword
keyword
54965
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"